Pleuropulmonary Blastoma; Ppb

Description

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Pleuropulmonary Blastoma; Ppb

  • Neoplasm
  • Atrial septal defect
  • Patent ductus arteriosus
  • Leukemia
  • Overgrowth
  • Goiter
  • Sarcoma
  • Nephroblastoma
  • Transposition of the great arteries
  • Hodgkin lymphoma

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PLEUROPULMONARY BLASTOMA; PPB have a estimated birth prevalence of 0.5 per 100k worldwide.
— The onset for some of the known clinical features related to this disease may vary, including childhood onset .

Alternative names

Pleuropulmonary Blastoma; Ppb Is also known as ppb familial tumor and dysplasia syndrome, ppbftds.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pleuropulmonary Blastoma; Ppb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET
Specificity
9 %
Genes
100 %
Hereditary Cancer Panel - Breast/Ovarian/Uterine28.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, XRCC2, DICER1, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Hereditary Cancer Panel- Comprehensive63.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, CDC73, DICER1, CDH1 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
BrainTumorNext.

By Ambry Genetics (United States).

SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
CancerNext.

By Ambry Genetics (United States).

BMPR1A, BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, DICER1, CDH1, CDK4, CDKN2A, GREM1, BRIP1, PALB2, HOXB13, APC, SMAD4, MLH1, MRE11, MSH2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
OvaNext.

By Ambry Genetics (United States).

BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, DICER1, CDH1, BRIP1, PALB2, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

You can get up to 63 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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