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 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: | '''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]]<nowiki/>s/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== | ==Historical Perspective== | ||
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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 | ||
*The p53 and | *The p53 and [[DICER1|DICER-1]] gene mutations/deletions have been associated with the development of pleuropulmonary blastoma. | ||
*On gross pathology, characteristic findings of pleuropulmonary blastoma, include: | *On gross pathology, characteristic findings of pleuropulmonary blastoma, include: | ||
:*The mass can be extrapulmonary | :*The mass can be extrapulmonary | ||
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*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. | ||
*Early clinical features include persisting upper respiratory tract infection, coughing, and | *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, include respiratory failure, pneumonia, or death. | *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% | *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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*Physical examination may be remarkable for: | *Physical examination may be remarkable for: | ||
:*Eye anomalies | :*Eye anomalies | ||
:*Mental retardation | :*[[Mental retardation]] | ||
:*Skin hypopigmentation | :*Skin [[Hypopigmentation skin|hypopigmentation]] | ||
:*Congenital skeletal abnormalities | :*Congenital skeletal abnormalities | ||
:*Short stature | |||
:*Premature aging | :*Premature aging | ||
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*On CT, findings of pleuropulmonary blastoma may include: | *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 |
Revision as of 19:33, 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:
- 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
- The p53 and DICER-1 gene mutations/deletions have been associated with the development of pleuropulmonary blastoma.
- On gross pathology, characteristic findings of pleuropulmonary blastoma, include:
- 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:
- Positive for TTF-1
- Positive for vimentin
- Positive for EMA
Causes
- Common causes of pleuropulmonary blastoma, include:
- 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:
- 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.
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.
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.
Natural History, Complications and Prognosis
- The majority of patients with pleuropulmonary blastoma are asymptomatic.
- Pleuropulmonary blastoma is usually an incidental finding during routine examinations.
- 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:
Physical Examination
- Patients with pleuropulmonary blastoma usually have dysmorphic facies.
- 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:
- 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
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.
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.