Desmoplastic small round cell tumor: Difference between revisions
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{{SK}} Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor | {{SK}} Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor | ||
==Overview== | ==Overview== | ||
Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and malignant neoplasm initially reported by Gerald and Rosai in 1989. The pathogenesis or histogenesis of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the abdominal and/or pelvic peritoneum. Moreover, it was also reported in [[epididymis]], [[pleura]], soft tissues, [[bone]], [[ovary]], and [[kidney]]. The diagnosis can be confirmed by histological and immunohistochemistry studies. CT scan is the most widely used diagnostic modality; abdominopelvic site was the commonest presentation and the disease can occur at other nonserosal surfaces also. Despite multimodality treatments, optimal treatment strategies remain controversial and the prognosis is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of abdominal DSRCT and retrospectively analyzed its clinical, radiological, and biopathological features, highlighting the modalities of treatment | Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and [[malignant]] [[neoplasm]] initially reported by Gerald and Rosai in 1989. The [[pathogenesis]] or [[histogenesis]] of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the [[abdominal]] and/or [[pelvic]] [[peritoneum]]. Moreover, it was also reported in [[epididymis]], [[pleura]], soft tissues, [[bone]], [[ovary]], and [[kidney]]. The [[diagnosis]] can be confirmed by [[histological]] and [[immunohistochemistry]] studies. [[CT scan]] is the most widely used [[diagnostic]] modality; abdominopelvic site was the commonest presentation and the [[disease]] can occur at other nonserosal surfaces also. Despite multimodality [[treatments]], optimal treatment strategies remain controversial and the [[prognosis]] is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of [[abdominal]] DSRCT and retrospectively analyzed its [[clinical]], [[radiological]], and biopathological features, highlighting the modalities of treatment | ||
==Historical Perspective== | ==Historical Perspective== | ||
Desmoplastic small round cell tumor was first described by pathologists, William L. Gerald and Juan Rosai, in 1989.<ref name=" | [[Desmoplastic small round cell tumor]] was first described by [[pathologists]], William L. Gerald and Juan Rosai, in 1989.<ref name="pmid24987737">{{cite journal |vauthors=Zhang G, Liu G, Zhao D, Cui X, Li G |title=Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases |journal=ScientificWorldJournal |volume=2014 |issue= |pages=549612 |date=2014 |pmid=24987737 |pmc=4060500 |doi=10.1155/2014/549612 |url=}}</ref> but as a distinct entity in 1991.<ref name="pmid25804122">{{cite journal |vauthors=Mora J, Modak S, Cheung NK, Meyers P, de Alava E, Kushner B, Magnan H, Tirado OM, Laquaglia M, Ladanyi M, Rosai J |title=Desmoplastic small round cell tumor 20 years after its discovery |journal=Future Oncol |volume=11 |issue=7 |pages=1071–81 |date=2015 |pmid=25804122 |doi=10.2217/fon.15.32 |url=}}</ref> | ||
== | |||
==Pathophysiology== | ==Pathophysiology== | ||
===Pathogenesis=== | ===Pathogenesis=== | ||
Desmoplastic small round cell tumor is a highly aggressive, rare tumor of mesenchymal origin whose oncogenic effect is presumed to originate from the unique chromosomal translocation t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene ''[[Ewing sarcoma breakpoint region 1|EWS]]'', to the C-terminal domain of Wilms’ tumor suppressor gene, ''[[WT1]]'', which is found in most but not all desmoplastic small round cell | [[Desmoplastic small round cell tumor]] is a highly aggressive, rare [[tumor]] of [[mesenchymal]] origin whose [[oncogenic]] effect is presumed to originate from the unique [[chromosomal translocation]] t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene ''[[Ewing sarcoma breakpoint region 1|EWS]]'', to the C-terminal domain of Wilms’ [[tumor suppressor gene]], ''[[WT1]]'', which is found in most but not all [[desmoplastic small round cell tumor]]<nowiki/>s.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
===Genetics=== | ===Genetics=== | ||
Desmoplastic small round cell tumor is associated with a unique chromosomal translocation t(11;22)(p13:q12), resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' translocation product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name= | [[Desmoplastic small round cell tumor]] is associated with a unique [[chromosomal translocation]] t(11;22)(p13:q12), resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[transcript]] that is [[diagnostic]] of this [[tumor]]. This [[transcript]] codes for a [[protein]] that acts as a transcriptional activator that fails to suppress [[tumor]] [[growth]]. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[translocation]] product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name="pmid27863505">{{cite journal |vauthors=Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM |title=A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease |journal=Hum. Genomics |volume=10 |issue=1 |pages=36 |date=November 2016 |pmid=27863505 |pmc=5116179 |doi=10.1186/s40246-016-0092-0 |url=}}</ref><ref name="pmid29576221">{{cite journal |vauthors=de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D |title=[Desmoplastic small round cell tumor in children, adolescents and young adults] |language=French |journal=Bull Cancer |volume=105 |issue=5 |pages=523–536 |date=May 2018 |pmid=29576221 |doi=10.1016/j.bulcan.2018.01.014 |url=}}</ref> | ||
===Associated Conditions=== | ===Associated Conditions=== | ||
There may be a chimeric relationship between desmoplastic small round cell tumor, and [[Wilms' tumor]] and [[Ewing's sarcoma]]. Together with [[neuroblastoma]] and [[non-Hodgkin's lymphoma]], they form the small cell tumors.<ref name= | There may be a chimeric relationship between [[desmoplastic small round cell tumor]], and [[Wilms' tumor]] and [[Ewing's sarcoma]]. Together with [[neuroblastoma]] and [[non-Hodgkin's lymphoma]], they form the small cell [[tumors]].<ref name="pmid29576221">{{cite journal |vauthors=de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D |title=[Desmoplastic small round cell tumor in children, adolescents and young adults] |language=French |journal=Bull Cancer |volume=105 |issue=5 |pages=523–536 |date=May 2018 |pmid=29576221 |doi=10.1016/j.bulcan.2018.01.014 |url=}}</re | ||
===Gross Pathology=== | ===Gross Pathology=== | ||
*On gross pathology, desmoplastic small giant cell tumor is characterized by a mass demonstrating the presence of nonuniform white-gray multinodules, distributed widely in the peritoneum.<ref name="ZhangLiu2014">{{cite journal|last1=Zhang|first1=Guangzhao|last2=Liu|first2=Guangjun|last3=Zhao|first3=Dahua|last4=Cui|first4=Xijun|last5=Li|first5=Gang|title=Desmoplastic Small Round Cell Tumor of the Abdomen and Pelvis: Clinicopathological Characters of 12 Cases|journal=The Scientific World Journal|volume=2014|year=2014|pages=1–7|issn=2356-6140|doi=10.1155/2014/549612}}< | *On gross pathology, desmoplastic small giant cell tumor is characterized by a mass demonstrating the presence of nonuniform white-gray multinodules, distributed widely in the peritoneum.<nowiki><ref name="ZhangLiu2014"></nowiki>{{cite journal|last1=Zhang|first1=Guangzhao|last2=Liu|first2=Guangjun|last3=Zhao|first3=Dahua|last4=Cui|first4=Xijun|last5=Li|first5=Gang|title=Desmoplastic Small Round Cell Tumor of the Abdomen and Pelvis: Clinicopathological Characters of 12 Cases|journal=The Scientific World Journal|volume=2014|year=2014|pages=1–7|issn=2356-6140|doi=10.1155/2014/549612}}<nowiki><ref name="pmid25431592"></nowiki>{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref><ref name="causesdsrct1">Causes of desmoplastic small round cell tumor. <nowiki><ref name="pmid27863505"></nowiki>{{cite journal |vauthors=Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM |title=A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease |journal=Hum. Genomics |volume=10 |issue=1 |pages=36 |date=November 2016 |pmid=27863505 |pmc=5116179 |doi=10.1186/s40246-016-0092-0 |url=}}</ref> | ||
===Microscopic Pathology=== | ===Microscopic Pathology=== | ||
On microscopic histopathological analysis, desmoplastic small round cell tumor is characterized by:<ref name= | On [[microscopic]] [[histopathological]] analysis, [[desmoplastic small round cell tumor]] is characterized by:<ref name="pmid27621277">{{cite journal |vauthors=Thway K, Noujaim J, Zaidi S, Miah AB, Benson C, Messiou C, Jones RL, Fisher C |title=Desmoplastic Small Round Cell Tumor: Pathology, Genetics, and Potential Therapeutic Strategies |journal=Int. J. Surg. Pathol. |volume=24 |issue=8 |pages=672–684 |date=December 2016 |pmid=27621277 |doi=10.1177/1066896916668637 |url=}}</ref><ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref> | ||
*Broad bands of paucicellular fibrous stroma | *Broad bands of paucicellular fibrous [[stroma]] | ||
*Small round cells in nests with an undulating sharp border | *Small round [[cells]] in nests with an undulating sharp border | ||
:*The small round cells lack distinct [[nucleoli]] and have scant [[cytoplasm]]; they are small round cell tumor cells. | :*The small round [[cells]] lack distinct [[nucleoli]] and have scant [[cytoplasm]]; they are small round cell [[tumor]] cells. | ||
*[[mitoses|Abundant mitoses]] | *[[mitoses|Abundant mitoses]] | ||
*+/-[[Necrosis]] | *+/-[[Necrosis]] | ||
*Hyperplastic blood vessels | *Hyperplastic [[blood vessels]] | ||
===Immunohistochemistry=== | ===Immunohistochemistry=== | ||
Desmoplastic small round cell tumor is demonstrated by positivity to tumor markers, such as: | [[Desmoplastic small round cell tumor]] is demonstrated by positivity to [[tumor]] markers, such as:<ref name="pmid24987737">{{cite journal |vauthors=Zhang G, Liu G, Zhao D, Cui X, Li G |title=Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases |journal=ScientificWorldJournal |volume=2014 |issue= |pages=549612 |date=2014 |pmid=24987737 |pmc=4060500 |doi=10.1155/2014/549612 |url=}}</ref><ref name="pmid27621277" /> | ||
*[[SLC4A3|AE1/AE3]] | *[[SLC4A3|AE1/AE3]] | ||
*[[Desmin]] | *[[Desmin]] | ||
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==Causes== | ==Causes== | ||
Common causes of desmoplastic small round cell tumor include [[mutation|genetic mutations]]. A [[translocation|chromosomal translocation]], t(11;22)(p13:q12) resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' transcript, may result in formation of desmoplastic small round cell tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' translocation product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name=causesdsrct1>Causes of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016</ref> | Common causes of [[desmoplastic small round cell tumor]] include [[mutation|genetic mutations]]. A [[translocation|chromosomal translocation]], t(11;22)(p13:q12) resulting in an ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' transcript, may result in formation of [[desmoplastic small round cell tumor]]. This transcript codes for a [[protein]] that acts as a transcriptional [[activator]] that fails to suppress [[tumor]] growth. The ''[[Ewing sarcoma breakpoint region 1|EWS]]''/''[[WT1]]'' [[translocation]] product targets [[SLC29A4|ENT4]]. ENT4 is also known as [[SLC29A4|PMAT]].<ref name="causesdsrct1">Causes of desmoplastic small round cell tumor. Wikipedia 2016. https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor#Differential_Diagnoses. Accessed on March 29, 2016</ref> | ||
==Differentiating Desmoplastic Small Round Cell Tumor from other Diseases== | ==Differentiating Desmoplastic Small Round Cell Tumor from other Diseases== | ||
*Desmoplastic small round cell tumor in the abdomen may cause gastrointestinal symptoms and mimic other abdominal tumors. So, they must be differentiated from other tumors in the abdomen, such as:<ref name= | *[[Desmoplastic small round cell tumor]] in the abdomen may cause [[gastrointestinal]] [[symptoms]] and mimic other [[abdominal]] [[Tumor|tumors]]. So, they must be differentiated from other [[tumors]] in the [[abdomen]], such as:<ref name="pmid27190620">{{cite journal |vauthors=Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H |title=Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report |journal=Clin Case Rep |volume=4 |issue=5 |pages=520–3 |date=May 2016 |pmid=27190620 |pmc=4856250 |doi=10.1002/ccr3.558 |url=}}</ref> | ||
:*[[Rhabdomyosarcoma]] | :*[[Rhabdomyosarcoma]] | ||
:*[[Neuroblastoma]] | :*[[Neuroblastoma]] | ||
:*[[carcinoid|Mesenteric carcinoid]] | :*[[carcinoid|Mesenteric carcinoid]] | ||
*In older patients, desmoplastic small round cell tumor must be differentiated from: | *In older patients, [[desmoplastic small round cell tumor]] must be differentiated from: | ||
:*[[Non-Hodgkins lymphoma]] | :*[[Non-Hodgkins lymphoma]] | ||
:*[[Peritoneal mesothelioma]] | :*[[Peritoneal mesothelioma]] | ||
:*[[Peritoneal carcinomatosis]] | :*[[Peritoneal carcinomatosis]] | ||
*In males, desmoplastic small round cell tumor may be mistaken for [[testicular cancer|testicular germ cell tumor]] while in females, desmoplastic small round cell tumor may be mistaken for [[ovarian cancer]]. | *In males, desmoplastic small round cell tumor may be mistaken for [[testicular cancer|testicular germ cell tumor]] while in females, desmoplastic small round cell tumor may be mistaken for [[ovarian cancer]]. | ||
*Desmoplastic small round cell tumor must be differentiated from other small-round blue cell cancers, such as:<ref name= | *Desmoplastic small round cell tumor must be differentiated from other small-round blue cell [[cancers]], such as:<ref name="pmid27190620">{{cite journal |vauthors=Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H |title=Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report |journal=Clin Case Rep |volume=4 |issue=5 |pages=520–3 |date=May 2016 |pmid=27190620 |pmc=4856250 |doi=10.1002/ccr3.558 |url=}}</ref> | ||
:*[[Ewing sarcoma]] | :*[[Ewing sarcoma]] | ||
:*[[Neuroblastoma]] | :*[[Neuroblastoma]] | ||
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05 and 0.02 per 100,000 individuals, respectively.<ref name=" | *Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05 and 0.02 per 100,000 individuals, respectively.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
*The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.<ref name=" | *The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
===Age=== | ===Age=== | ||
*Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults. | *Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults. | ||
*Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.<ref name=" | *Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
===Gender=== | ===Gender=== | ||
Males are more commonly affected with desmoplastic small round cell tumor than females. The male to female ratio is approximately 4 to 1.<ref name=" | [[Males]] are more commonly affected with [[desmoplastic small round cell tumor]] than [[females]]. The male to female ratio is approximately 4 to 1.<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
===Race=== | ===Race=== | ||
Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell tumor.<ref name=" | Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell [[tumor]].<ref name="pmid25431592">{{cite journal |vauthors=Lettieri CK, Garcia-Filion P, Hingorani P |title=Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database |journal=J Cancer Epidemiol |volume=2014 |issue= |pages=680126 |date=2014 |pmid=25431592 |pmc=4238280 |doi=10.1155/2014/680126 |url=}}</ref> | ||
==Risk Factors== | ==Risk Factors== | ||
There are no established risk factors for desmoplastic small round cell tumor | There are no established [[risk factors]] for desmoplastic small round cell tumor | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
===Natural History=== | ===Natural History=== | ||
Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body. | Because the [[disease]] can be misdiagnosed or remain undetected, [[tumors]] frequently grow large within the [[abdomen]] and [[metastasize]] or seed to other parts of the body. | ||
===Complications=== | ===Complications=== | ||
[[Complications]] of desmoplastic small round cell tumor include:<ref name="pmid26347069">{{cite journal |vauthors=Nabi S, Saste A, Gulati R |title=A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management |journal=Case Rep Oncol Med |volume=2015 |issue= |pages=925453 |date=2015 |pmid=26347069 |pmc=4546747 |doi=10.1155/2015/925453 |url=}}</ref> | |||
*[[peritoneum|Peritoneal seeding]] | *[[peritoneum|Peritoneal seeding]] | ||
*[[Lymph node|Lymph nodal involvement]] | *[[Lymph node|Lymph nodal involvement]] | ||
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===Prognosis=== | ===Prognosis=== | ||
*The prognosis for desmoplastic small round cell tumor remains poor and depends upon the stage of the cancer. | *The prognosis for desmoplastic small round [[cell]] [[tumor]] remains poor and depends upon the stage of the cancer. | ||
*The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.<ref name=" | *The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.<ref name="pmid29871905">{{cite journal |vauthors=Subbiah V, Lamhamedi-Cherradi SE, Cuglievan B, Menegaz BA, Camacho P, Huh W, Ramamoorthy V, Anderson PM, Pollock RE, Lev DC, Qiao W, McAleer MF, Benjamin RS, Patel S, Herzog CE, Daw NC, Feig BW, Lazar AJ, Hayes-Jordan A, Ludwig JA |title=Multimodality Treatment of Desmoplastic Small Round Cell Tumor: Chemotherapy and Complete Cytoreductive Surgery Improve Patient Survival |journal=Clin. Cancer Res. |volume=24 |issue=19 |pages=4865–4873 |date=October 2018 |pmid=29871905 |doi=10.1158/1078-0432.CCR-18-0202 |url=}}</ref> | ||
==== | ==Diagnosis== | ||
The diagnosis constitutes <ref name="pmid27955733">{{cite journal |vauthors=Hayes-Jordan A, LaQuaglia MP, Modak S |title=Management of desmoplastic small round cell tumor |journal=Semin. Pediatr. Surg. |volume=25 |issue=5 |pages=299–304 |date=October 2016 |pmid=27955733 |pmc=5614508 |doi=10.1053/j.sempedsurg.2016.09.005 |url=}}</ref> | |||
===Symptoms=== | ===Symptoms=== | ||
*There are few early warning signs that a patient has a desmoplastic small round cell tumor. | *There are few early warning signs that a [[patient]] has a desmoplastic small round cell tumor. | ||
*Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and the symptoms are often misdiagnosed by physicians. The abdominal lump may grow to enormous size before being noticed by the patient. | *[[Patients]] are often young and healthy as the tumors grow and spread uninhibited within the [[abdominal cavity]]. These are rare [[tumors]] and the symptoms are often misdiagnosed by physicians. The [[abdominal]] [[lump]] may grow to enormous size before being noticed by the [[patient]]. | ||
====Common Symptoms==== | ====Common Symptoms==== | ||
Common symptoms of desmoplastic small round cell tumor include: | Common [[symptoms]] of desmoplastic small round cell [[tumor]] include: | ||
*[[Abdominal distention]] | *[[Abdominal distention]] | ||
*[[Abdominal mass|Lump in abdomen]] | *[[Abdominal mass|Lump in abdomen]] | ||
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====Less Common Symptoms==== | ====Less Common Symptoms==== | ||
Less common symptoms of desmoplastic small round cell tumor include: | Less common [[symptoms]] of desmoplastic small round cell tumor include: | ||
*[[lump|Unknown lumps]] | *[[lump|Unknown lumps]] | ||
*[[thyroid gland|Thyroid conditions]] | *[[thyroid gland|Thyroid conditions]] | ||
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===Physical Examination=== | ===Physical Examination=== | ||
Common physical examination findings of desmoplastic small round cell tumor include:<ref name=" | Common physical examination findings of desmoplastic small round cell [[tumor]] include:<ref name="pmid23840979">{{cite journal |vauthors=Abu-Zaid A, Azzam A, Alnajjar A, Al-Hussaini H, Amin T |title=Desmoplastic small round cell tumor of stomach |journal=Case Rep Gastrointest Med |volume=2013 |issue= |pages=907136 |date=2013 |pmid=23840979 |pmc=3690222 |doi=10.1155/2013/907136 |url=}}</ref> | ||
*[[abdominal mass|Palpable adominal mass]] | *[[abdominal mass|Palpable adominal mass]] | ||
*[[Ascites]] | *[[Ascites]] | ||
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===CT=== | ===CT=== | ||
*Abdominal CT scan is the most widely used diagnostic modality for desmoplastic small round cell tumor.<ref name=" | *[[Abdominal]] [[CT scan]] is the most widely used [[diagnostic]] modality for desmoplastic small round cell tumor.<ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref> | ||
*Findings on CT scan suggestive of desmoplastic small round cell tumor include a solitary to multiple soft tissue masses with no definite organ of origin, usually in the retrovesical or rectouterine space, which enhance heterogenously on contrast studies. [[Necrosis]], [[hemorrhage]], and [[fibrosis|fibrous components]] are common. | *Findings on [[CT scan]] suggestive of desmoplastic small round cell tumor include a solitary to multiple [[soft tissue]] masses with no definite organ of origin, usually in the retrovesical or rectouterine space, which enhance heterogenously on contrast studies. [[Necrosis]], [[hemorrhage]], and [[fibrosis|fibrous components]] are common. | ||
*[[peritoneum|Peritoneal seeding]], [[lymph node|lymph nodal involvement]], [[metastasis|liver and bone metastases]] may also be demonstrated. | *[[peritoneum|Peritoneal seeding]], [[lymph node|lymph nodal involvement]], [[metastasis|liver and bone metastases]] may also be demonstrated. | ||
===MRI=== | ===MRI=== | ||
*MRI may helpful in delineating the extent of desmoplastic small round cell tumor, if surgery is considered.<ref name=" | *[[MRI]] may helpful in delineating the extent of desmoplastic small round cell tumor, if [[surgery]] is considered.<ref name="pmid22128126">{{cite journal |vauthors=Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH |title=Imaging of desmoplastic small round cell tumour in adults |journal=Br J Radiol |volume=85 |issue=1010 |pages=187–92 |date=February 2012 |pmid=22128126 |pmc=3473944 |doi=10.1259/bjr/57186741 |url=}}</ref> | ||
*On MRI, desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous stroma and degenerative features including [[necrosis]], [[hemorrhage]], and [[calcification]. | *On [[MRI]], desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous [[stroma]] and degenerative features including [[necrosis]], [[hemorrhage]], and [[calcification]]. | ||
==Treatment== | ==Treatment== | ||
*Desmoplastic small round cell tumor is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a sarcoma center. | Treatment includes<ref name="pmid27955733">{{cite journal |vauthors=Hayes-Jordan A, LaQuaglia MP, Modak S |title=Management of desmoplastic small round cell tumor |journal=Semin. Pediatr. Surg. |volume=25 |issue=5 |pages=299–304 |date=October 2016 |pmid=27955733 |pmc=5614508 |doi=10.1053/j.sempedsurg.2016.09.005 |url=}}</ref> | ||
*[[surgery|Surgical excision]] with [[ | *Desmoplastic small round cell tumor is frequently misdiagnosed. Adult [[patients]] should always be referred to a [[sarcoma]] specialist. This is an aggressive, rare, fast spreading [[tumor]] and both [[pediatric]] and adult patients should be treated at a [[sarcoma]] center. | ||
*There is no standard protocol for desmoplastic small round cell tumor; however, recent journals and studies have reported that some patients respond to high-dose (P6 Protocol) [[chemotherapy]], maintenance chemotherapy, [[debulking procedure]], [[ | *[[surgery|Surgical excision]] with combination [[chemotherapy]] as an adjunct is mandatory for nonmetastatic cases because these modalities used in isolation may have less impact. | ||
*Other treatment options for desmoplastic small round cell tumor include [[stem cell transplant|hematopoietic stem cell transplantation]], intensity-modulated radiation | *There is no standard protocol for desmoplastic small round cell tumor; however, recent journals and studies have reported that some patients respond to high-[[dose]] (P6 Protocol) [[chemotherapy]], maintenance [[chemotherapy]], [[debulking procedure]], cytoreductive [[surgery]], and [[radiotherapy|radiation therapy]]. | ||
*Other treatment options for desmoplastic small round cell tumor include [[stem cell transplant|hematopoietic stem cell transplantation]], intensity-modulated [[radiation therapy]], [[radiofrequency ablation]], stereotactic body [[radiation therapy]], [[intraperitoneal hyperthermic chemoperfusion]], and [[clinical trials]]. | |||
==References== | ==References== | ||
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[[Category:Medicine]] | |||
Latest revision as of 22:53, 4 April 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Omer Kamal, M.D.[2], Sujit Routray, M.D. [3]
Synonyms and keywords: Desmoplastic small round cell tumour; Desmoplastic small round blue cell tumor; Desmoplastic small round blue cell tumour; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic cancer; Desmoplastic sarcoma; DSRCT; Mesothelioblastoma; Polyphenotypic small round cell tumor
Overview
Desmoplastic small round cell tumor is an extremely rare, highly aggressive, and malignant neoplasm initially reported by Gerald and Rosai in 1989. The pathogenesis or histogenesis of desmoplastic small round cell tumor is uncertain; it mainly occurs in adolescents and mostly involves the abdominal and/or pelvic peritoneum. Moreover, it was also reported in epididymis, pleura, soft tissues, bone, ovary, and kidney. The diagnosis can be confirmed by histological and immunohistochemistry studies. CT scan is the most widely used diagnostic modality; abdominopelvic site was the commonest presentation and the disease can occur at other nonserosal surfaces also. Despite multimodality treatments, optimal treatment strategies remain controversial and the prognosis is poor. Current multimodality treatment rarely achieves cure and prolongs life. Here, we described 12 cases of abdominal DSRCT and retrospectively analyzed its clinical, radiological, and biopathological features, highlighting the modalities of treatment
Historical Perspective
Desmoplastic small round cell tumor was first described by pathologists, William L. Gerald and Juan Rosai, in 1989.[1] but as a distinct entity in 1991.[2]
Pathophysiology
Pathogenesis
Desmoplastic small round cell tumor is a highly aggressive, rare tumor of mesenchymal origin whose oncogenic effect is presumed to originate from the unique chromosomal translocation t(11;22)(p13:q12), leading to the fusion of the N-terminal domain of Ewing’s sarcoma gene EWS, to the C-terminal domain of Wilms’ tumor suppressor gene, WT1, which is found in most but not all desmoplastic small round cell tumors.[3]
Genetics
Desmoplastic small round cell tumor is associated with a unique chromosomal translocation t(11;22)(p13:q12), resulting in an EWS/WT1 transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.[4][5]
Associated Conditions
There may be a chimeric relationship between desmoplastic small round cell tumor, and Wilms' tumor and Ewing's sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small cell tumors.[5][6]
Microscopic Pathology
On microscopic histopathological analysis, desmoplastic small round cell tumor is characterized by:[7][8]
- Broad bands of paucicellular fibrous stroma
- Small round cells in nests with an undulating sharp border
- Abundant mitoses
- +/-Necrosis
- Hyperplastic blood vessels
Immunohistochemistry
Desmoplastic small round cell tumor is demonstrated by positivity to tumor markers, such as:[1][7]
Causes
Common causes of desmoplastic small round cell tumor include genetic mutations. A chromosomal translocation, t(11;22)(p13:q12) resulting in an EWS/WT1 transcript, may result in formation of desmoplastic small round cell tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth. The EWS/WT1 translocation product targets ENT4. ENT4 is also known as PMAT.[6]
Differentiating Desmoplastic Small Round Cell Tumor from other Diseases
- Desmoplastic small round cell tumor in the abdomen may cause gastrointestinal symptoms and mimic other abdominal tumors. So, they must be differentiated from other tumors in the abdomen, such as:[9]
- In older patients, desmoplastic small round cell tumor must be differentiated from:
- In males, desmoplastic small round cell tumor may be mistaken for testicular germ cell tumor while in females, desmoplastic small round cell tumor may be mistaken for ovarian cancer.
- Desmoplastic small round cell tumor must be differentiated from other small-round blue cell cancers, such as:[9]
Epidemiology and Demographics
Incidence
- Age-adjusted incidence rate of desmoplastic small round cell tumor for African Americans and Caucasians is 0.05 and 0.02 per 100,000 individuals, respectively.[3]
- The overall age-adjusted incidence rate of desmoplastic small round cell tumor is 0.03 per 100,000 individuals, with a peak incidence of 0.074 per 100,000 individuals in the 20–24 years of age group.[3]
Age
- Desmoplastic small round cell tumor is a rare disease that tends to affect children and young adults.
- Peak age of incidence for desmoplastic small round cell tumor is between 20 and 24 years.[3]
Gender
Males are more commonly affected with desmoplastic small round cell tumor than females. The male to female ratio is approximately 4 to 1.[3]
Race
Desmoplatic small round cell tumor usually affects individuals of the African American and Caucasian race. Latin American and Asian individuals are less likely to develop desmoplatic small round cell tumor.[3]
Risk Factors
There are no established risk factors for desmoplastic small round cell tumor
Natural History, Complications, and Prognosis
Natural History
Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body.
Complications
Complications of desmoplastic small round cell tumor include:[10]
Prognosis
- The prognosis for desmoplastic small round cell tumor remains poor and depends upon the stage of the cancer.
- The 5-year overall survival rate of patients with desmoplastic small round cell tumor is approximately 15%.[11]
Diagnosis
The diagnosis constitutes [12]
Symptoms
- There are few early warning signs that a patient has a desmoplastic small round cell tumor.
- Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and the symptoms are often misdiagnosed by physicians. The abdominal lump may grow to enormous size before being noticed by the patient.
Common Symptoms
Common symptoms of desmoplastic small round cell tumor include:
- Abdominal distention
- Lump in abdomen
- Abdominal pain
- Vomiting
- Back pain
- Gastrointestinal obstruction
- Lack of appetite
- Fatigue
- Weakness
- Cachexia
Less Common Symptoms
Less common symptoms of desmoplastic small round cell tumor include:
- Unknown lumps
- Thyroid conditions
- Hormonal problems
- Blood clotting problems
- Kidney or urological problems
- Lump in the testicle, breast, uterus, vagina, or ovary
Physical Examination
Common physical examination findings of desmoplastic small round cell tumor include:[13]
- Palpable adominal mass
- Ascites
- Increased abdominal girth
CT
- Abdominal CT scan is the most widely used diagnostic modality for desmoplastic small round cell tumor.[8]
- Findings on CT scan suggestive of desmoplastic small round cell tumor include a solitary to multiple soft tissue masses with no definite organ of origin, usually in the retrovesical or rectouterine space, which enhance heterogenously on contrast studies. Necrosis, hemorrhage, and fibrous components are common.
- Peritoneal seeding, lymph nodal involvement, liver and bone metastases may also be demonstrated.
MRI
- MRI may helpful in delineating the extent of desmoplastic small round cell tumor, if surgery is considered.[8]
- On MRI, desmoplastic small round cell tumor is characterized by hypo- to isointensity on T1-weighted images. On contrast administration, it has a heterogenous enhancement, due to the fibrous stroma and degenerative features including necrosis, hemorrhage, and calcification.
Treatment
Treatment includes[12]
- Desmoplastic small round cell tumor is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a sarcoma center.
- Surgical excision with combination chemotherapy as an adjunct is mandatory for nonmetastatic cases because these modalities used in isolation may have less impact.
- There is no standard protocol for desmoplastic small round cell tumor; however, recent journals and studies have reported that some patients respond to high-dose (P6 Protocol) chemotherapy, maintenance chemotherapy, debulking procedure, cytoreductive surgery, and radiation therapy.
- Other treatment options for desmoplastic small round cell tumor include hematopoietic stem cell transplantation, intensity-modulated radiation therapy, radiofrequency ablation, stereotactic body radiation therapy, intraperitoneal hyperthermic chemoperfusion, and clinical trials.
References
- ↑ 1.0 1.1 Zhang G, Liu G, Zhao D, Cui X, Li G (2014). "Desmoplastic small round cell tumor of the abdomen and pelvis: clinicopathological characters of 12 cases". ScientificWorldJournal. 2014: 549612. doi:10.1155/2014/549612. PMC 4060500. PMID 24987737.
- ↑ Mora J, Modak S, Cheung NK, Meyers P, de Alava E, Kushner B, Magnan H, Tirado OM, Laquaglia M, Ladanyi M, Rosai J (2015). "Desmoplastic small round cell tumor 20 years after its discovery". Future Oncol. 11 (7): 1071–81. doi:10.2217/fon.15.32. PMID 25804122.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Lettieri CK, Garcia-Filion P, Hingorani P (2014). "Incidence and outcomes of desmoplastic small round cell tumor: results from the surveillance, epidemiology, and end results database". J Cancer Epidemiol. 2014: 680126. doi:10.1155/2014/680126. PMC 4238280. PMID 25431592.
- ↑ Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM (November 2016). "A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease". Hum. Genomics. 10 (1): 36. doi:10.1186/s40246-016-0092-0. PMC 5116179. PMID 27863505.
- ↑ 5.0 5.1 de Marcellus C, Sarnacki S, Pierron G, Ranchère-Vince D, Scalabre A, Bolle S, Minard-Colin V, Corradini N, Fayard C, Orbach D (May 2018). "[Desmoplastic small round cell tumor in children, adolescents and young adults]". Bull Cancer (in French). 105 (5): 523–536. doi:10.1016/j.bulcan.2018.01.014. PMID 29576221.
- ↑ 6.0 6.1 Causes of desmoplastic small round cell tumor. <ref name="pmid27863505">Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM (November 2016). "A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease". Hum. Genomics. 10 (1): 36. doi:10.1186/s40246-016-0092-0. PMC 5116179. PMID 27863505.
- ↑ 7.0 7.1 Thway K, Noujaim J, Zaidi S, Miah AB, Benson C, Messiou C, Jones RL, Fisher C (December 2016). "Desmoplastic Small Round Cell Tumor: Pathology, Genetics, and Potential Therapeutic Strategies". Int. J. Surg. Pathol. 24 (8): 672–684. doi:10.1177/1066896916668637. PMID 27621277.
- ↑ 8.0 8.1 8.2 Kis B, O'Regan KN, Agoston A, Javery O, Jagannathan J, Ramaiya NH (February 2012). "Imaging of desmoplastic small round cell tumour in adults". Br J Radiol. 85 (1010): 187–92. doi:10.1259/bjr/57186741. PMC 3473944. PMID 22128126.
- ↑ 9.0 9.1 Wakahashi S, Sudo T, Ichida K, Sugita S, Hasegawa T, Nagao S, Yamaguchi S, Sakuma T, Yamada H (May 2016). "Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report". Clin Case Rep. 4 (5): 520–3. doi:10.1002/ccr3.558. PMC 4856250. PMID 27190620.
- ↑ Nabi S, Saste A, Gulati R (2015). "A Rare Case of Metastatic Desmoplastic Small Round Cell Tumour: Diagnosis and Management". Case Rep Oncol Med. 2015: 925453. doi:10.1155/2015/925453. PMC 4546747. PMID 26347069.
- ↑ Subbiah V, Lamhamedi-Cherradi SE, Cuglievan B, Menegaz BA, Camacho P, Huh W, Ramamoorthy V, Anderson PM, Pollock RE, Lev DC, Qiao W, McAleer MF, Benjamin RS, Patel S, Herzog CE, Daw NC, Feig BW, Lazar AJ, Hayes-Jordan A, Ludwig JA (October 2018). "Multimodality Treatment of Desmoplastic Small Round Cell Tumor: Chemotherapy and Complete Cytoreductive Surgery Improve Patient Survival". Clin. Cancer Res. 24 (19): 4865–4873. doi:10.1158/1078-0432.CCR-18-0202. PMID 29871905.
- ↑ 12.0 12.1 Hayes-Jordan A, LaQuaglia MP, Modak S (October 2016). "Management of desmoplastic small round cell tumor". Semin. Pediatr. Surg. 25 (5): 299–304. doi:10.1053/j.sempedsurg.2016.09.005. PMC 5614508. PMID 27955733.
- ↑ Abu-Zaid A, Azzam A, Alnajjar A, Al-Hussaini H, Amin T (2013). "Desmoplastic small round cell tumor of stomach". Case Rep Gastrointest Med. 2013: 907136. doi:10.1155/2013/907136. PMC 3690222. PMID 23840979.