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* [[Somatic]] activating GNA14 c.614A>T (p.Gln205Leu) [[mutations]] have been found in some KHE.<ref name="pmid27476652">{{cite journal |vauthors=Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA |title=GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation |journal=Am. J. Hum. Genet. |volume=99 |issue=2 |pages=443–50 |date=August 2016 |pmid=27476652 |pmc=4974082 |doi=10.1016/j.ajhg.2016.06.010 |url=}}</ref> | * [[Somatic]] activating GNA14 c.614A>T (p.Gln205Leu) [[mutations]] have been found in some KHE.<ref name="pmid27476652">{{cite journal |vauthors=Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA |title=GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation |journal=Am. J. Hum. Genet. |volume=99 |issue=2 |pages=443–50 |date=August 2016 |pmid=27476652 |pmc=4974082 |doi=10.1016/j.ajhg.2016.06.010 |url=}}</ref> | ||
* Invasion of [[bone]], [[retroperitoneum]], and [[mediastinum]] has occured in some cases but no case of [[metastasis]] has been reported yet.<ref name="pmid59885">{{cite journal |vauthors= |title=Letter: Prevention of coronary heart-disease |journal=Lancet |volume=2 |issue=7980 |pages=313–4 |date=August 1976 |pmid=59885 |doi= |url=}}</ref> | * Invasion of [[bone]], [[retroperitoneum]], and [[mediastinum]] has occured in some cases but no case of [[metastasis]] has been reported yet.<ref name="pmid59885">{{cite journal |vauthors= |title=Letter: Prevention of coronary heart-disease |journal=Lancet |volume=2 |issue=7980 |pages=313–4 |date=August 1976 |pmid=59885 |doi= |url=}}</ref> | ||
* [[Diagnostic]] work up may include blood tests, [[biopsy]], [[contrast enhanced ultrasound]] and [[MRI]] or [[CT scan imaging]]. | * [[Diagnostic]] work up may include blood tests, [[biopsy]], [[Ultrasound|contrast enhanced ultrasound]] and [[MRI]] or [[CT scan|CT scan imaging]]. | ||
* Treatment | * Treatment options include [[steroid]], [[vincristine]], [[interferon alpha]], anti-platelet agents, [[sirolimus]]-containing therapies, and [[surgery]].<ref name="pmid30054848">{{cite journal| author=Schmid I, Klenk AK, Sparber-Sauer M, Koscielniak E, Maxwell R, Häberle B| title=Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. | journal=World J Pediatr | year= 2018 | volume= 14 | issue= 4 | pages= 322-329 | pmid=30054848 | doi=10.1007/s12519-018-0171-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30054848 }} </ref> | ||
For more information on [[Kaposiform hemangioendothelioma]], [[Kaposiform hemangioendothelioma#Kaposiform hemangioendothelioma|click here]]. | For more information on [[Kaposiform hemangioendothelioma]], [[Kaposiform hemangioendothelioma#Kaposiform hemangioendothelioma|click here]]. | ||
===Retiform hemangioendothelioma=== | ===Retiform hemangioendothelioma=== | ||
* First described in 1994 as a form of low grade [[angiosarcoma]], retiform hemangioendothelioma commonly presents as a slow growing [[asymptomatic]] solitary nodule or plaque on distal [[extremities]] in 2nd-4th decade of life.<ref name="pmid25484427">{{cite journal |vauthors=Ranga SM, Kuchangi NC, Shankar VS, Amita K, Haleuoor BB, Belagola SD |title=Retiform hemangioendothelioma: an uncommon pediatric vascular neoplasm |journal=Indian J Dermatol |volume=59 |issue=6 |pages=633 |date=November 2014 |pmid=25484427 |pmc=4248535 |doi=10.4103/0019-5154.143583 |url=}}</ref> | * First described in 1994 as a form of low grade [[angiosarcoma]], retiform hemangioendothelioma commonly presents as a slow growing [[asymptomatic]] solitary nodule or plaque on distal [[extremities]] in 2nd-4th decade of life.<ref name="pmid25484427">{{cite journal |vauthors=Ranga SM, Kuchangi NC, Shankar VS, Amita K, Haleuoor BB, Belagola SD |title=Retiform hemangioendothelioma: an uncommon pediatric vascular neoplasm |journal=Indian J Dermatol |volume=59 |issue=6 |pages=633 |date=November 2014 |pmid=25484427 |pmc=4248535 |doi=10.4103/0019-5154.143583 |url=}}</ref> | ||
* | * It must be differentiated from [[angiosarcoma]]. | ||
* High level of local [[recurrence]] but very low potential for [[metastasis]]. | * High level of local [[recurrence]] but very low potential for [[metastasis]]. | ||
* [[Diagnostic]] work up includes histopathological studies, that shows branching [[blood]] [[vessels]] are arranged in | * [[Diagnostic]] work up includes histopathological studies, that shows branching [[blood]] [[vessels]] are arranged in retiform pattern and MRI. | ||
* [[Surgery]] is the treatment of choice, though 2/3rd cases recur. | * [[Surgery]] is the treatment of choice, though 2/3rd cases recur. | ||
* Adjuvant [[radiotherapy]] and adjuvant [[chemotherapy]] with recombinant [[interferon alpha]] and low dose [[cisplatin]] have also been reported in selected cases. | * Adjuvant [[radiotherapy]] and adjuvant [[chemotherapy]] with recombinant [[interferon alpha]] and low dose [[cisplatin]] have also been reported in selected cases. | ||
===Papillary intralymphatic angioendothelioma (PILA), Dabska tumor=== | ===Papillary intralymphatic angioendothelioma (PILA), Dabska tumor=== | ||
* First described in 1969 by Dabska,this rare [[vascular]] [[neoplasm]] generally occurs in soft tissues but can also occur in [[bone]]. They usually appear as painless inflammatory irregular or nodular [[lesions]] below the [[skin]] surface. | * First described in 1969 by Dabska, this rare [[vascular]] [[neoplasm]] generally occurs in soft tissues but can also occur in [[bone]]. They usually appear as painless inflammatory irregular or nodular [[lesions]] below the [[skin]] surface. | ||
* The distinctive feature on histopathology is the intravascular growth of well-differentiated [[endothelial cells]] presenting as a matchstick columnar configuration.<ref>© 1999 Lippincott Williams & Wilkins, Inc.</ref> | * The distinctive feature on histopathology is the intravascular growth of well-differentiated [[endothelial cells]] presenting as a matchstick columnar configuration.<ref>© 1999 Lippincott Williams & Wilkins, Inc.</ref> | ||
* They are locally aggressive but rarely [[metastasize]]. Locally | * They are locally aggressive but rarely [[metastasize]]. Locally recurrence after [[surgery]] is very common. | ||
* [[Diagnostic]] studies may include histopathological studies, [[fine needle aspiration]], [[MRI]] and [[CT scan]].<ref>https://www.dovemed.com/diseases-conditions/papillary-intralymphatic-angioendothelioma-pila/</ref> | * [[Diagnostic]] studies may include histopathological studies, [[fine needle aspiration]], [[MRI]], and [[CT scan]].<ref>https://www.dovemed.com/diseases-conditions/papillary-intralymphatic-angioendothelioma-pila/</ref> | ||
* Wide local excision is the treatment of choice. However any combination of [[steroids]], [[chemotherapy]], [[radiation]] therapy, and invasive procedures can be used to treat this tumor. | * Wide local excision is the treatment of choice. However any combination of [[steroids]], [[chemotherapy]], [[radiation]] therapy, and invasive procedures can be used to treat this tumor. | ||
Revision as of 17:46, 26 October 2018
For information on vascular anomalies, click here.
For information on benign vascular tumors, Click here.
|
Vascular Tumor |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Vascular tumors are growths (benign or malignant) formed from blood vessels; for example, hemangioma, hemangioendothelioma, Kaposi sarcoma, angiosarcoma. International Society for the Study of Vascular Anomalies (ISSVA) has classified vascular tumors into three main categories depending on their clinical and histological behavior. Some lesions related clinically and/or histologically to vascular tumors have been described in provisionally unclassified vascular anomalies and related lesions.
Classification
| Vascular tumors | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Benign | Locally aggressive or borderline | Malignant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile hemangioma / Hemangioma of infancy | Kaposiform hemangioendothelioma | Angiosarcoma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hemangioma | Retiform hemangioendothelioma | Epithelioid hemangioendothelioma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tufted angioma | Papillary intralymphatic angioendothelioma (PILA), Dabska tumor | Others | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spindle-cell hemangioma | Composite hemangioendothelioma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epithelioid hemangioma | Pseudomyogenic hemangioendothelioma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyogenic granuloma (also known as lobular capillary hemangioma) | Polymorphous hemangioendothelioma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hemangioendothelioma not otherwise specified | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
'
| Kaposi sarcoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Others | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
*congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities
Adapted from International Society for the Study of Vascular Anomalies[1]
Benign vascular tumors
Benign vascular tumors, are benign growths formed from blood vessels; such as, hemangioma, hemangioendothelioma, Kaposi sarcoma. They exhibit a wide range of clinical manifestations, and may occur as isolated lesions or may occur as manifestation of multi-system syndromes and diseases. Their diagnosis and management depends on their clinical manifestations and coexistent anomalies. International Society for the Study of Vascular Anomalies (ISSVA) has classified these lesions into benign vascular tumors and related lesions.
For more information on benign vascular tumors, click here.
Locally aggressive or borderline vascular tumors
Kaposiform hemangioendothelioma
- Locally Aggressive tumor that originates on skin and occurs primarily in childhood. It is characterized by a single or multiple masses with following characteristics:[2]
- Deep reddish-purple color
- Shiny, firm texture
- Warm to the touch
- Swollen and painful
- May be complicated by Kasabach-Merritt phenomenon (KMP), characterized by consumption coagulopathy, thrombocytopenia, and hemolytic anemia.[3] Typical features also include low fibrinogen and elevated d-dimers.
- Somatic activating GNA14 c.614A>T (p.Gln205Leu) mutations have been found in some KHE.[4]
- Invasion of bone, retroperitoneum, and mediastinum has occured in some cases but no case of metastasis has been reported yet.[3]
- Diagnostic work up may include blood tests, biopsy, contrast enhanced ultrasound and MRI or CT scan imaging.
- Treatment options include steroid, vincristine, interferon alpha, anti-platelet agents, sirolimus-containing therapies, and surgery.[5]
For more information on Kaposiform hemangioendothelioma, click here.
Retiform hemangioendothelioma
- First described in 1994 as a form of low grade angiosarcoma, retiform hemangioendothelioma commonly presents as a slow growing asymptomatic solitary nodule or plaque on distal extremities in 2nd-4th decade of life.[6]
- It must be differentiated from angiosarcoma.
- High level of local recurrence but very low potential for metastasis.
- Diagnostic work up includes histopathological studies, that shows branching blood vessels are arranged in retiform pattern and MRI.
- Surgery is the treatment of choice, though 2/3rd cases recur.
- Adjuvant radiotherapy and adjuvant chemotherapy with recombinant interferon alpha and low dose cisplatin have also been reported in selected cases.
Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
- First described in 1969 by Dabska, this rare vascular neoplasm generally occurs in soft tissues but can also occur in bone. They usually appear as painless inflammatory irregular or nodular lesions below the skin surface.
- The distinctive feature on histopathology is the intravascular growth of well-differentiated endothelial cells presenting as a matchstick columnar configuration.[7]
- They are locally aggressive but rarely metastasize. Locally recurrence after surgery is very common.
- Diagnostic studies may include histopathological studies, fine needle aspiration, MRI, and CT scan.[8]
- Wide local excision is the treatment of choice. However any combination of steroids, chemotherapy, radiation therapy, and invasive procedures can be used to treat this tumor.
Composite hemangioendothelioma
- A rare vascular neoplasms, characterized by an admixture of benign, low-grade malignant, and malignant vascular components, the ratio of each component can vary. They can occur in any age group.[9]
- They occur predominantly as long-standing lesions in the dermis and subcutis of the extremities, but can also occur at other sites, including the oral cavity and in viscera such as kidney and spleen.[10]
- It may recur locally and has the potential to metastasize. Recurrence was found to be in 8/10 cases in some studies. [11]
- Diagnostic work up must include biopsy because of heterogeneity of lesions and it must be differentiated from other vascular tumors.[9]
- Surgical excision is the treatment of choice although some patients have been treated with interferons and electron beams.[9]
Pseudomyogenic hemangioendothelioma
- A locally aggressive tumor with endothelial differentiation that usually presents as multiple asymptomatic discontinuous lesions, often at extremities.[12][13]
- SERPINE1-FOSB fusions are characteristic that result in over-expression of truncated form of FOSB. FBJ murine osteosarcoma viral oncogene homolog B, also known as Finkel-Biskis-Jinkins murine osteosarcoma viral oncogene homolog B, FOSB or FosB, is a protein that, in humans have been implicated as regulators of cell proliferation, differentiation, and transformation.[12]
- It may mimic epithelioid sarcoma on histology but metastasis is very rare and prognosis is excellent.[13]
- Diagnostic work up includes X-ray, MRI, CT scan and biopsy of the lesion.
- Excision is the typical treatment but chemotherapeutic agents including gemcitabine/taxane and mammalian target of rapamycin inhibitor , mTOR inhibitors such as sirolimus, VEGFR1-4/PDGFRA inhibitors such as telatinib have been used with success in various studies.[14][15][12]
Polymorphous hemangioendothelioma
- A rare vascular neoplasm, Polymorphous hemangioendothelioma occurs in lymph nodes, but a few cases have been found in extra-nodal sites such as the mediastinum, spinal cord, and liver. It is a very rare cause of persistent lymphadenopathy. The data on natural history and clinical presentation is limited due to very few number of cases reported. [16]
- Characterized by a polymorphous blend of solid, primitive vascular and angiomatous areas in varied proportions on microscopic examination.[16]
- Diagnotic work up includes histopathological examination, MRI and CT scan.
- Wide local excisio has been used for treatment, with radiation therapy in case of recurrence.n[17][18]
Kaposi sarcoma
- An AIDS-associated vascular malignancy that usually presents as mucocutaneous lesions [19] but can also occur in viscera such as lungs. It can remain confined to skin but widespread visceral involvement may occur.
- There are three known variants
- One variant occurs spontaneously in Jewish and Italian males in Europe and the United States.
- Another more aggressive variant is endemic in young children is endemic in Africa.
- A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. HHV-8 is the suspected cause.[20]
For more information on Kaposi sarcoma, Click here
Malignant vascular tumors
Angiosarcoma
- Angiosarcoma(AS) is malignancy that presents with a very heterogeneous distribution in the human body with aggressive clinical course, and may appear in multiple locations, from breast to liver or skin.[21]
- Associated with MYC gene amplification and protein overexpression. Myc is a family of regulator genes and proto-oncogenes that code for transcription factors.[22]
- Complete surgical excision and radiotherapy are the main treatments, with a minor role of chemotherapy.[23]
For more information about angiosarcoma, Click here.
Epithelioid hemangioendothelioma
- A rare vascular tumor, described for the first time in 1975 by Dail and Liebow,that usually affects lung, liver and bones, although may occur many other sites in body including head and neck, breasts and lymph nodes.[24]
- Usually asymptomatic but patient may present with respiratory symptoms, bone pains or other symptoms depending on the site of the tumor.
- Majority are characterized by a reciprocal t(1;3)(p36;q25) translocation. The t(1;3) results in fusion of a gene known as WWTR1 (or TAZ) to CAMTA1. These genes code for transcription factors.[25][26]
- Imaging is crucial in forming both diagnosis and management plan. Recognition of the expression of vascular markers (Fli-1 and CD31 are endothelial-specific markers), and the microscopic evidence of vascular differentiation is of primary importance as well.[24]
- Surgery has been used as primary treatment modality depending upon the location of the tumor, with radiotherapy being used in some cases.
References
- ↑ "Classification | International Society for the Study of Vascular Anomalies".
- ↑ Hu PA, Zhou ZR (June 2018). "Clinical and imaging features of Kaposiform Hemangioendothelioma". Br J Radiol. 91 (1086): 20170798. doi:10.1259/bjr.20170798. PMID 29536769.
- ↑ 3.0 3.1 "Letter: Prevention of coronary heart-disease". Lancet. 2 (7980): 313–4. August 1976. PMID 59885.
- ↑ Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA (August 2016). "GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation". Am. J. Hum. Genet. 99 (2): 443–50. doi:10.1016/j.ajhg.2016.06.010. PMC 4974082. PMID 27476652.
- ↑ Schmid I, Klenk AK, Sparber-Sauer M, Koscielniak E, Maxwell R, Häberle B (2018). "Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options". World J Pediatr. 14 (4): 322–329. doi:10.1007/s12519-018-0171-5. PMID 30054848.
- ↑ Ranga SM, Kuchangi NC, Shankar VS, Amita K, Haleuoor BB, Belagola SD (November 2014). "Retiform hemangioendothelioma: an uncommon pediatric vascular neoplasm". Indian J Dermatol. 59 (6): 633. doi:10.4103/0019-5154.143583. PMC 4248535. PMID 25484427.
- ↑ © 1999 Lippincott Williams & Wilkins, Inc.
- ↑ https://www.dovemed.com/diseases-conditions/papillary-intralymphatic-angioendothelioma-pila/
- ↑ 9.0 9.1 9.2 Rokni GR, Montazer F, Sharifian M, Goldust M (December 2017). "Composite hemangioendothelioma of the forehead and right eye; a case report". BMC Dermatol. 17 (1): 15. doi:10.1186/s12895-017-0067-4. PMC 5727897. PMID 29233122.
- ↑ Shang Leen SL, Fisher C, Thway K (July 2015). "Composite hemangioendothelioma: clinical and histologic features of an enigmatic entity". Adv Anat Pathol. 22 (4): 254–9. doi:10.1097/PAP.0000000000000079. PMID 26050262.
- ↑ https://www.jpatholtm.org/upload/pdf/kjp-40-2-142.pdf
- ↑ 12.0 12.1 12.2 van IJzendoorn D, Sleijfer S, Gelderblom H, Eskens F, van Leenders G, Szuhai K, Bovée J (June 2018). "Telatinib Is an Effective Targeted Therapy for Pseudomyogenic Hemangioendothelioma". Clin. Cancer Res. 24 (11): 2678–2687. doi:10.1158/1078-0432.CCR-17-3512. PMID 29511030. Vancouver style error: initials (help)
- ↑ 13.0 13.1 Raftopoulos E, Royer M, Warren M, Zhao J, Rush W (August 2018). "Pseudomyogenic Hemangioendothelioma: Case Report and Review of the Literature". Am J Dermatopathol. 40 (8): 597–601. doi:10.1097/DAD.0000000000001104. PMID 29406432.
- ↑ Joseph J, Wang WL, Patnana M, Ramesh N, Benjamin R, Patel S, Ravi V (2015). "Cytotoxic and targeted therapy for treatment of pseudomyogenic hemangioendothelioma". Clin Sarcoma Res. 5: 22. doi:10.1186/s13569-015-0037-8. PMC 4615364. PMID 26500758.
- ↑ Gabor KM, Sapi Z, Tiszlavicz LG, Fige A, Bereczki C, Bartyik K (February 2018). "Sirolimus therapy in the treatment of pseudomyogenic hemangioendothelioma". Pediatr Blood Cancer. 65 (2). doi:10.1002/pbc.26781. PMID 28843050.
- ↑ 16.0 16.1 El Hussein S, Omarzai Y (May 2017). "Multifocal Polymorphous Hemangioendothelioma of the Liver: Case Report and Review of Literature". Int. J. Surg. Pathol. 25 (3): 266–270. doi:10.1177/1066896916679517. PMID 27913780.
- ↑ Tadros M, Rizk SS, Opher E, Thompson LD (June 2003). "Polymorphous hemangioendothelioma of the neck". Ann Diagn Pathol. 7 (3): 165–8. PMID 12808568.
- ↑ Falleti J, Siano M, De Cecio R, Somma A, Pettinato G, Insabato L (2009). "Nodal and extranodal soft tissue polymorphous hemangioendothelioma: a case report and review of the literature". Tumori. 95 (1): 94–7. PMID 19366064.
- ↑ Khan S, Guevara J, Barbosa A, Ayuby A, Bien-Aime F, Verda L, Glick N, Mehta V (2018). "Primary pulmonary Kaposi Sarcoma in a newly diagnosed cisgender heterosexual HIV positive patient presenting before cutaneous manifestations". IDCases. 14: e00420. doi:10.1016/j.idcr.2018.e00420. PMC 6125769. PMID 30191128.
- ↑ Piccolo V, Russo T, Moscarella E, Brancaccio G, Alfano R, Argenziano G (October 2018). "Dermatoscopy of Vascular Lesions". Dermatol Clin. 36 (4): 389–395. doi:10.1016/j.det.2018.05.006. PMID 30201148.
- ↑ Villaescusa Catalan JM, Martín IG, Cagigal Cobo ML (September 2018). "Popliteal Angiosarcoma After Bypass With Autologous Saphenous Vein". Ann Vasc Surg. doi:10.1016/j.avsg.2018.06.034. PMID 30217704.
- ↑ Udager AM, Ishikawa MK, Lucas DR, McHugh JB, Patel RM (December 2016). "MYC immunohistochemistry in angiosarcoma and atypical vascular lesions: practical considerations based on a single institutional experience". Pathology. 48 (7): 697–704. doi:10.1016/j.pathol.2016.08.007. PMID 27780597.
- ↑ Priyakumari T, Chandar R, Jayasree K, Ramachandran K (September 2018). "Pediatric Primary Ovarian Angiosarcoma: From rarity to a realization". J Pediatr Adolesc Gynecol. doi:10.1016/j.jpag.2018.08.008. PMID 30179666.
- ↑ 24.0 24.1 Sardaro A, Bardoscia L, Petruzzelli MF, Portaluri M (September 2014). "Epithelioid hemangioendothelioma: an overview and update on a rare vascular tumor". Oncol Rev. 8 (2): 259. doi:10.4081/oncol.2014.259. PMC 4419652. PMID 25992243.
- ↑ Errani C, Zhang L, Sung YS, Hajdu M, Singer S, Maki RG, Healey JH, Antonescu CR (August 2011). "A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites". Genes Chromosomes Cancer. 50 (8): 644–53. doi:10.1002/gcc.20886. PMC 3264678. PMID 21584898.
- ↑ Tanas MR, Sboner A, Oliveira AM, Erickson-Johnson MR, Hespelt J, Hanwright PJ, Flanagan J, Luo Y, Fenwick K, Natrajan R, Mitsopoulos C, Zvelebil M, Hoch BL, Weiss SW, Debiec-Rychter M, Sciot R, West RB, Lazar AJ, Ashworth A, Reis-Filho JS, Lord CJ, Gerstein MB, Rubin MA, Rubin BP (August 2011). "Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma". Sci Transl Med. 3 (98): 98ra82. doi:10.1126/scitranslmed.3002409. PMID 21885404.