Pleuropulmonary blastoma: Difference between revisions
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==Classification== | ==Classification== | ||
*Pleuropulmonary blastoma may be classified into 3 groups: | *Pleuropulmonary blastoma may be classified into 3 groups:<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
:* Type I: multicystic lesions | :* Type I: multicystic lesions | ||
:* Type II: thickened areas (nodules) within this cystic lesions | :* Type II: thickened areas (nodules) within this cystic lesions | ||
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==Pathophysiology== | ==Pathophysiology== | ||
*The pathogenesis of pleuropulmonary blastoma is characterized by resembling immature lung tissue | *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. | *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, include: | *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> | ||
:*The mass can be extrapulmonary | :*The mass can be extrapulmonary | ||
:*Attachment to the parietal pleura | :*Attachment to the parietal pleura | ||
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:*Mesenchymal component | :*Mesenchymal component | ||
:*Small round cells | :*Small round cells | ||
*On inmunohistochemistry analysis, characteristic findings of pleuropulmonary blastoma, include: | *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 | ||
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==Causes== | ==Causes== | ||
* Common causes of pleuropulmonary blastoma, include: | * 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 | ||
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==Differentiating [disease name] from other Diseases== | ==Differentiating [disease name] from other Diseases== | ||
*Pleuropulmonary blastoma must be differentiated from other diseases that cause cough, or reccurent upper respiratory tract infections, such as: | *Pleuropulmonary blastoma must be differentiated from other diseases that cause cough, or reccurent upper respiratory tract infections, 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) | ||
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
*Pleuropulmonary blastoma is very uncommon. | *Pleuropulmonary blastoma is very uncommon.<ref name="radoi"> Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016 </ref> | ||
===Age=== | ===Age=== | ||
*Pleuropulmonary blastoma is more commonly observed among patients between 0-2 years old. | *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 more commonly observed among infants and children. | ||
*Pleuropulmonary blastoma is less commonly observed among adults. | *Pleuropulmonary blastoma is less commonly observed among adults.<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> | ||
===Gender=== | ===Gender=== | ||
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==Risk Factors== | ==Risk Factors== | ||
*There are no risk factors associated in the development of pleuropulmonary blastoma. | *There are no risk factors associated in 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 examinations. | *Pleuropulmonary blastoma is usually an incidental finding during routine examinations.<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. | ||
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*Pleuropulmonary blastoma is usually asymptomatic. | *Pleuropulmonary blastoma is usually asymptomatic. | ||
*Symptoms of pleuropulmonary blastoma are often non-specific. | *Symptoms of pleuropulmonary blastoma are often non-specific. | ||
*Symptoms of pleuropulmonary blastoma may include the following: | *Symptoms of pleuropulmonary blastoma may include the following:<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> | ||
:*[[Chest pain]] | :*[[Chest pain]] | ||
:*[[Cough]] | :*[[Cough]] | ||
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=== Physical Examination === | === Physical Examination === | ||
*Patients with pleuropulmonary blastoma usually have dysmorphic facies. | *Patients with pleuropulmonary blastoma usually have dysmorphic facies.<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> | ||
*Physical examination may be remarkable for: | *Physical examination may be remarkable for: | ||
:*Eye anomalies | :*Eye anomalies | ||
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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 conventional radiograph, findings of pleuropulmonary blastoma include: | *On conventional radiograph, 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> | ||
:*[[Pseudo-cardiomegaly]] | :*[[Pseudo-cardiomegaly]] | ||
*On CT, findings of pleuropulmonary blastoma may include: | *On CT, findings of pleuropulmonary blastoma may include: | ||
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== Treatment == | == Treatment == | ||
=== Medical Therapy === | === Medical Therapy === | ||
*There is no treatment for pleuropulmonary blastoma the mainstay of therapy is supportive care | *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 === | ||
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=== Prevention === | === Prevention === | ||
*There are no primary preventive measures available for pleuropulmonary blastoma. | *There are no primary preventive measures available for pleuropulmonary blastoma.<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> | ||
==References== | ==References== |
Revision as of 19:36, 20 April 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 (eg. 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.
Historical Perspective
- Pleuropulmonary blastoma was first discovered by Manivel in 1988.
Classification
- Pleuropulmonary blastoma may be classified into 3 groups:[2]
- Type I: multicystic lesions
- Type II: thickened areas (nodules) within this 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, and there is some evidence that 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:[3]
- The mass can be extrapulmonary
- 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]
- Positive for TTF-1
- Positive for vimentin
- Positive for EMA
Causes
- Common causes of pleuropulmonary blastoma, include:[2]
- Trisomy 8
- Trisomy 2
- p53 mutations/deletions
Differentiating [disease name] from other Diseases
- Pleuropulmonary blastoma must be differentiated from other diseases that cause cough, or reccurent upper respiratory tract infections, such as:[3]
- Intrathoracic soft tissue sarcoma
- Large bronchogenic cyst or lung cyst (for type I)
- Fetal lung interstitial tumour
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.[3]
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 in 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 examinations.[3]
- 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 death.
- 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:[3]
Physical Examination
- Patients with pleuropulmonary blastoma usually have dysmorphic facies.[3]
- 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 conventional radiograph, findings of pleuropulmonary blastoma include:[3]
- 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
Treatment
Medical Therapy
- There is no treatment for pleuropulmonary blastoma the mainstay of therapy is supportive care.[3]
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.[3]
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 Radiopedia. Dr. Henry Knipe. http://radiopaedia.org/articles/pleuropulmonary-blastoma Accessed on April 20, 2016
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Dehner LP (1994). "Pleuropulmonary blastoma is THE pulmonary blastoma of childhood". Semin Diagn Pathol. 11 (2): 144–51. PMID 7809508.