Pleuropulmonary blastoma: Difference between revisions
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==Overview== | ==Overview== | ||
'''Pleuropulmonary blastoma''' ('''PPB''') is a rare intrathoracic malignancy originating in the [[lung]] or [[pleural cavity]]. Pleuropulmonary blastoma occurs most often in infants and young children.<ref name="pmid11002236">{{cite journal |vauthors=Indolfi P, Casale F, Carli M, etal |title=Pleuropulmonary blastoma: management and prognosis of 11 cases |journal=Cancer |volume=89 |issue=6 |pages=1396–401 |date=September 2000 |pmid=11002236|doi=10.1002/1097-0142(20000915)89:6<1396::AID-CNCR25>3.0.CO;2-2}}</ref> The pathogenesis of pleuropulmonary blastoma is characterized by immature lung tissue. The p53 mutations/deletions have been associated with the development of pleuropulmonary blastoma. Pleuropulmonary blastoma may be classified into 3 groups: type I, II, III. Common causes of pleuropulmonary blastoma include: [[trisomy 8]], trisomy 2, and [[P53|p53 mutation]]s/deletions (e.g., [[Li-Fraumeni syndrome]]). On gross pathology, characteristic findings of pleuropulmonary blastoma include: extra-pulmonary location, and attachment to the [[parietal pleura]]. Pleuropulmonary blastoma is more commonly observed among patients between 0-2 years old. Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | '''Pleuropulmonary blastoma''' ('''PPB''') is a rare intrathoracic malignancy originating in the [[lung]] or [[pleural cavity]]. Pleuropulmonary blastoma occurs most often in infants and young children.<ref name="pmid11002236">{{cite journal |vauthors=Indolfi P, Casale F, Carli M, etal |title=Pleuropulmonary blastoma: management and prognosis of 11 cases |journal=Cancer |volume=89 |issue=6 |pages=1396–401 |date=September 2000 |pmid=11002236|doi=10.1002/1097-0142(20000915)89:6<1396::AID-CNCR25>3.0.CO;2-2}}</ref> The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue. The p53 mutations/deletions have been associated with the development of pleuropulmonary blastoma. Pleuropulmonary blastoma may be classified into 3 groups: type I, II, III. Common causes of pleuropulmonary blastoma include: [[trisomy 8]], trisomy 2, and [[P53|p53 mutation]]s/deletions (e.g., [[Li-Fraumeni syndrome]]). On gross pathology, characteristic findings of pleuropulmonary blastoma include: extra-pulmonary location, and attachment to the [[parietal pleura]]. Pleuropulmonary blastoma is more commonly observed among patients between 0-2 years old. Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
==Historical Perspective== | ==Historical Perspective== | ||
*Pleuropulmonary blastoma was first discovered by Manivel in 1988. | *Pleuropulmonary blastoma was first discovered by Dr. Juan C. Manivel, MD in 1988.<ref name="pmid3048630">{{cite journal| author=Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, Wick MR et al.| title=Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. | journal=Cancer | year= 1988 | volume= 62 | issue= 8 | pages= 1516-26 | pmid=3048630 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3048630 }} </ref> | ||
==Classification== | ==Classification== | ||
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*The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | *The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
*The p53 and [[DICER1|DICER-1]] gene mutations/deletions have been associated with the development of pleuropulmonary blastoma.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | *The p53 and [[DICER1|DICER-1]] gene mutations/deletions have been associated with the development of pleuropulmonary blastoma.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
*On gross pathology, characteristic findings of pleuropulmonary blastoma | *On gross pathology, characteristic findings of pleuropulmonary blastoma include:<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | ||
:* | :*Extrapumonary mass | ||
:*Attachment to the parietal pleura | :*Attachment to the [[parietal pleura]] | ||
*On microscopic histopathological analysis, characteristic findings of pleuropulmonary blastoma | *On microscopic histopathological analysis, characteristic findings of pleuropulmonary blastoma include: | ||
:*Epithelial component | :*[[Epithelial]] component | ||
:*Mesenchymal component | :*[[Mesenchymal]] component | ||
:*Small round cells | :*Small, round cells | ||
*On inmunohistochemistry analysis, characteristic findings of pleuropulmonary blastoma | *On inmunohistochemistry analysis, characteristic findings of pleuropulmonary blastoma include:<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
:*Positive for TTF-1 | :*Positive for [[TTF-1]] | ||
:*Positive for vimentin | :*Positive for [[vimentin]] | ||
:*Positive for EMA | :*Positive for epithelial membrane antigen (EMA) | ||
==Causes== | ==Causes== | ||
* Common causes of pleuropulmonary blastoma | * Common causes of pleuropulmonary blastoma include:<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
:*Trisomy 8 | :*[[Trisomy 8]] | ||
:*Trisomy 2 | :*Trisomy 2 | ||
:*p53 mutations/deletions | :*p53 mutations/deletions | ||
==Differentiating Pleuropulmonary Blastoma from Other Diseases== | ==Differentiating Pleuropulmonary Blastoma from Other Diseases== | ||
*Pleuropulmonary blastoma must be differentiated from other diseases that cause cough | *Pleuropulmonary blastoma must be differentiated from other diseases that cause [[cough]] or recurrent [[upper respiratory tract infection]]s, such as:<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | ||
:*Intrathoracic soft tissue sarcoma | :*Intrathoracic [[soft tissue sarcoma]] | ||
:*Large bronchogenic cyst or lung cyst (for type I) | :*Large [[bronchogenic cyst]] or lung cyst (for type I) | ||
:*Fetal lung interstitial | :*Fetal lung interstitial tumor | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
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===Race=== | ===Race=== | ||
*There is no racial predilection for | *There is no racial predilection for pleuropulmonary blastoma | ||
==Risk Factors== | ==Risk Factors== | ||
*There are no risk factors associated | *There are no risk factors associated with the development of pleuropulmonary blastoma.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
== Natural History, Complications and Prognosis== | == Natural History, Complications and Prognosis== | ||
*The majority of patients with pleuropulmonary blastoma are asymptomatic. | *The majority of patients with pleuropulmonary blastoma are asymptomatic. | ||
*Pleuropulmonary blastoma is usually an incidental finding during routine | *Pleuropulmonary blastoma is usually an incidental finding during routine examination.<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | ||
*Early clinical features include persisting [[Upper respiratory tract infection causes|upper respiratory tract infection]], [[coughing]], and [[shortness of breath]]. | *Early clinical features include persisting [[Upper respiratory tract infection causes|upper respiratory tract infection]], [[coughing]], and [[shortness of breath]]. | ||
*If left untreated, the majority of patients with may progress to develop acute respiratory distress syndrome. | *If left untreated, the majority of patients with may progress to develop [[acute respiratory distress syndrome]]. | ||
*Common complications of pleuropulmonary blastoma | *Common complications of pleuropulmonary blastoma include [[respiratory failure]], [[pneumonia]], or [[mortality]]. | ||
*Prognosis is generally poor, and the 5-year survival rate of patients with pleuropulmonary blastoma is approximately 15% | *Prognosis is generally poor, and the 5-year survival rate of patients with pleuropulmonary blastoma is approximately 15%. | ||
*Pleuropulmonary blastomas larger than 5 cm have a worse prognosis. | *Pleuropulmonary blastomas larger than 5 cm have a worse prognosis. | ||
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===Imaging Findings=== | ===Imaging Findings=== | ||
*CT is the imaging modality of choice for pleuropulmonary blastoma | *CT is the imaging modality of choice for pleuropulmonary blastoma. On CT, findings of pleuropulmonary blastoma may include: | ||
:*Large mass in the thorax with solid mixed cystic heterogeneous low attenuation | :*Large mass in the thorax with solid mixed cystic heterogeneous low attenuation | ||
:*[[Pleural effusion]] | :*[[Pleural effusion]] | ||
:*Contralateral mediastinal shift | :*Contralateral mediastinal shift | ||
:*Lack of chest wall invasion | :*Lack of chest wall invasion | ||
*On conventional radiograph, findings of pleuropulmonary blastoma may include [[pseudo-cardiomegaly]].<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | |||
== Treatment == | == Treatment == | ||
=== Medical Therapy === | === Medical Therapy === | ||
*There is no treatment for pleuropulmonary blastoma the mainstay of therapy is supportive care.<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | *There is no treatment for pleuropulmonary blastoma; the mainstay of therapy is supportive care.<ref name="pmid7809508">{{cite journal |vauthors=Dehner LP |title=Pleuropulmonary blastoma is THE pulmonary blastoma of childhood |journal=Semin Diagn Pathol |volume=11 |issue=2 |pages=144–51 |year=1994 |pmid=7809508 |doi= |url=}}</ref> | ||
=== Surgery === | === Surgery === | ||
*Surgery is the mainstay of therapy for pleuropulmonary blastoma. | *Surgery is the mainstay of therapy for pleuropulmonary blastoma. | ||
*Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma | *Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma. | ||
=== Prevention === | === Prevention === | ||
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[[Category:Oncology]] | [[Category:Oncology]] | ||
[[Category:Pulmonology]] | [[Category:Pulmonology]] | ||
[[Category:FinalQCRequired]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Revision as of 20:58, 27 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Faizan Sheraz, M.D. [2], Maria Fernanda Villarreal, M.D. [3]
Synonyms and keywords: Pulmonary blastoma; PPB
Overview
Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy originating in the lung or pleural cavity. Pleuropulmonary blastoma occurs most often in infants and young children.[1] The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue. The p53 mutations/deletions have been associated with the development of pleuropulmonary blastoma. Pleuropulmonary blastoma may be classified into 3 groups: type I, II, III. Common causes of pleuropulmonary blastoma include: trisomy 8, trisomy 2, and p53 mutations/deletions (e.g., Li-Fraumeni syndrome). On gross pathology, characteristic findings of pleuropulmonary blastoma include: extra-pulmonary location, and attachment to the parietal pleura. Pleuropulmonary blastoma is more commonly observed among patients between 0-2 years old. Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma.[2]
Historical Perspective
- Pleuropulmonary blastoma was first discovered by Dr. Juan C. Manivel, MD in 1988.[3]
Classification
- Pleuropulmonary blastoma may be classified into 3 groups:[2]
- Type I: multicystic lesions
- Type II: thickened areas (nodules) within cystic lesions
- Type III: solid masses
- Type I PPB is made up of mostly cysts, and may be hard to distinguish from benign lung cysts; not all type I PPB will progress to types II and III.
Pathophysiology
- The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue.[2]
- The p53 and DICER-1 gene mutations/deletions have been associated with the development of pleuropulmonary blastoma.[2]
- On gross pathology, characteristic findings of pleuropulmonary blastoma include:[4]
- Extrapumonary mass
- Attachment to the parietal pleura
- On microscopic histopathological analysis, characteristic findings of pleuropulmonary blastoma include:
- Epithelial component
- Mesenchymal component
- Small, round cells
- On inmunohistochemistry analysis, characteristic findings of pleuropulmonary blastoma include:[2]
Causes
- Common causes of pleuropulmonary blastoma include:[2]
- Trisomy 8
- Trisomy 2
- p53 mutations/deletions
Differentiating Pleuropulmonary Blastoma from Other Diseases
- Pleuropulmonary blastoma must be differentiated from other diseases that cause cough or recurrent upper respiratory tract infections, such as:[4]
- Intrathoracic soft tissue sarcoma
- Large bronchogenic cyst or lung cyst (for type I)
- Fetal lung interstitial tumor
Epidemiology and Demographics
- Pleuropulmonary blastoma is very uncommon.[2]
Age
- Pleuropulmonary blastoma is more commonly observed among patients between 0-2 years old.
- Pleuropulmonary blastoma is more commonly observed among infants and children.
- Pleuropulmonary blastoma is less commonly observed among adults.[4]
Gender
- Pleuropulmonary blastoma affects men and women equally.
Race
- There is no racial predilection for pleuropulmonary blastoma
Risk Factors
- There are no risk factors associated with the development of pleuropulmonary blastoma.[2]
Natural History, Complications and Prognosis
- The majority of patients with pleuropulmonary blastoma are asymptomatic.
- Pleuropulmonary blastoma is usually an incidental finding during routine examination.[4]
- Early clinical features include persisting upper respiratory tract infection, coughing, and shortness of breath.
- If left untreated, the majority of patients with may progress to develop acute respiratory distress syndrome.
- Common complications of pleuropulmonary blastoma include respiratory failure, pneumonia, or mortality.
- Prognosis is generally poor, and the 5-year survival rate of patients with pleuropulmonary blastoma is approximately 15%.
- Pleuropulmonary blastomas larger than 5 cm have a worse prognosis.
Diagnosis
Symptoms
- Pleuropulmonary blastoma is usually asymptomatic.
- Symptoms of pleuropulmonary blastoma are often non-specific.
- Symptoms of pleuropulmonary blastoma may include the following:[4]
Physical Examination
- Patients with pleuropulmonary blastoma usually have dysmorphic facies.[4]
- Physical examination may be remarkable for:
- Eye anomalies
- Mental retardation
- Skin hypopigmentation
- Congenital skeletal abnormalities
- Short stature
- Premature aging
Laboratory Findings
- There are no specific laboratory findings associated with pleuropulmonary blastoma.
Imaging Findings
- CT is the imaging modality of choice for pleuropulmonary blastoma. On CT, findings of pleuropulmonary blastoma may include:
- Large mass in the thorax with solid mixed cystic heterogeneous low attenuation
- Pleural effusion
- Contralateral mediastinal shift
- Lack of chest wall invasion
- On conventional radiograph, findings of pleuropulmonary blastoma may include pseudo-cardiomegaly.[4]
Treatment
Medical Therapy
- There is no treatment for pleuropulmonary blastoma; the mainstay of therapy is supportive care.[4]
Surgery
- Surgery is the mainstay of therapy for pleuropulmonary blastoma.
- Complete surgical resection is often most common approach to the treatment of pleuropulmonary blastoma.
Prevention
- There are no primary preventive measures available for pleuropulmonary blastoma.[4]
References
- ↑ Indolfi P, Casale F, Carli M, et al. (September 2000). "Pleuropulmonary blastoma: management and prognosis of 11 cases". Cancer. 89 (6): 1396–401. doi:10.1002/1097-0142(20000915)89:6<1396::AID-CNCR25>3.0.CO;2-2. PMID 11002236.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016
- ↑ Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, Wick MR; et al. (1988). "Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood". Cancer. 62 (8): 1516–26. PMID 3048630.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 Dehner LP (1994). "Pleuropulmonary blastoma is THE pulmonary blastoma of childhood". Semin Diagn Pathol. 11 (2): 144–51. PMID 7809508.