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Pleuropulmonary blastoma(PPB)

MedGen UID:
266105
Concept ID:
C1266144
Neoplastic Process
Synonym: PPB
SNOMED CT: Pleuropulmonary blastoma (128763002); Pleuropulmonary blastoma (707670009); Pleuro-pulmonary blastoma (707670009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): DICER1 (14q32.13)
 
HPO: HP:0100528
Monarch Initiative: MONDO:0011014
OMIM®: 601200
Orphanet: ORPHA64742

Disease characteristics

Excerpted from the GeneReview: DICER1 Tumor Predisposition
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns). [from GeneReviews]
Authors:
Kris Ann P Schultz  |  Douglas R Stewart  |  Junne Kamihara, et. al.   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/601200
From MedlinePlus Genetics
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.

People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax).

Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood.

DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize.

People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).  https://medlineplus.gov/genetics/condition/dicer1-syndrome

Clinical features

From HPO
Rhabdomyosarcoma
MedGen UID:
20561
Concept ID:
C0035412
Neoplastic Process
A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.
Pleuropulmonary blastoma
MedGen UID:
266105
Concept ID:
C1266144
Neoplastic Process
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPleuropulmonary blastoma
Follow this link to review classifications for Pleuropulmonary blastoma in Orphanet.

Conditions with this feature

Pleuropulmonary blastoma
MedGen UID:
266105
Concept ID:
C1266144
Neoplastic Process
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).
Rhabdomyosarcoma, embryonal, 2
MedGen UID:
357232
Concept ID:
C1867234
Neoplastic Process
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).

Professional guidelines

PubMed

Han LM, Weiel JJ, Longacre TA, Folkins AK
Adv Anat Pathol 2022 Sep 1;29(5):297-308. Epub 2022 Jul 1 doi: 10.1097/PAP.0000000000000351. PMID: 35778792
Leung SS, Donuru A, Kandula V, Parekh MR, Saul D
Semin Ultrasound CT MR 2022 Feb;43(1):61-72. Epub 2021 May 15 doi: 10.1053/j.sult.2021.05.007. PMID: 35164911
Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Turnbull C, Priest JR, Pritchard-Jones K, Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N
J Med Genet 2011 Apr;48(4):273-8. Epub 2011 Jan 25 doi: 10.1136/jmg.2010.083790. PMID: 21266384

Recent clinical studies

Etiology

Wang F, Zhuang L, Liang J, Li L, Wang H, Tang J, Zeng J, Liu W
Pediatr Pulmonol 2022 Sep;57(9):2237-2243. Epub 2022 Jun 13 doi: 10.1002/ppul.25930. PMID: 35510654
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J
Klin Onkol 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. PMID: 31409088
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA
Clin Cancer Res 2018 May 15;24(10):2251-2261. Epub 2018 Jan 17 doi: 10.1158/1078-0432.CCR-17-3089. PMID: 29343557Free PMC Article
Leblanc C, Baron M, Desselas E, Phan MH, Rybak A, Thouvenin G, Lauby C, Irtan S
Eur J Pediatr 2017 Dec;176(12):1559-1571. Epub 2017 Oct 19 doi: 10.1007/s00431-017-3032-7. PMID: 29046943
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383

Diagnosis

Abramson Z, Schechter A
Radiology 2023 Aug;308(2):e222364. doi: 10.1148/radiol.222364. PMID: 37642568
Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA
Clin Cancer Res 2018 May 15;24(10):2251-2261. Epub 2018 Jan 17 doi: 10.1158/1078-0432.CCR-17-3089. PMID: 29343557Free PMC Article
Leblanc C, Baron M, Desselas E, Phan MH, Rybak A, Thouvenin G, Lauby C, Irtan S
Eur J Pediatr 2017 Dec;176(12):1559-1571. Epub 2017 Oct 19 doi: 10.1007/s00431-017-3032-7. PMID: 29046943
Picarsic J, Reyes-Múgica M
Appl Immunohistochem Mol Morphol 2015 May-Jun;23(5):313-26. doi: 10.1097/PAI.0000000000000068. PMID: 25390357

Therapy

Polites SF, Heaton TE, LaQuaglia MP, Kim ES, Barry WE, Goodhue CJ, Murphy AJ, Davidoff AM, Langham MR, Meyers RL, Short SS, Lautz TB, Glick RD, Vasudevan SA, Bence CM, Lal DR, Baertschiger RM, Emr B, Malek MM, Dasgupta R
Ann Surg 2021 Dec 1;274(6):e605-e609. doi: 10.1097/SLA.0000000000003795. PMID: 32209902
Stewart DR, Best AF, Williams GM, Harney LA, Carr AG, Harris AK, Kratz CP, Dehner LP, Messinger YH, Rosenberg PS, Hill DA, Schultz KAP
J Clin Oncol 2019 Mar 10;37(8):668-676. Epub 2019 Feb 4 doi: 10.1200/JCO.2018.78.4678. PMID: 30715996Free PMC Article
Puligandla PS, Laberge JM
Clin Perinatol 2012 Jun;39(2):331-47. doi: 10.1016/j.clp.2012.04.009. PMID: 22682383
Indolfi P, Bisogno G, Casale F, Cecchetto G, De Salvo G, Ferrari A, Donfrancesco A, Donofrio V, Martone A, Di Martino M, Di Tullio MT
Pediatr Blood Cancer 2007 Mar;48(3):318-23. doi: 10.1002/pbc.20842. PMID: 16619221
Miniati DN, Chintagumpala M, Langston C, Dishop MK, Olutoye OO, Nuchtern JG, Cass DL
J Pediatr Surg 2006 Jan;41(1):66-71. doi: 10.1016/j.jpedsurg.2005.10.074. PMID: 16410110

Prognosis

Bedoya MA, Ketwaroo P, Gagnon MH, Taylor S, Ndibe C, Mehollin-Ray AR
Magn Reson Imaging Clin N Am 2024 Aug;32(3):553-571. Epub 2024 Apr 23 doi: 10.1016/j.mric.2024.03.006. PMID: 38944440
Wang F, Zhuang L, Liang J, Li L, Wang H, Tang J, Zeng J, Liu W
Pediatr Pulmonol 2022 Sep;57(9):2237-2243. Epub 2022 Jun 13 doi: 10.1002/ppul.25930. PMID: 35510654
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP
Mod Pathol 2022 Jan;35(1):4-22. Epub 2021 Oct 1 doi: 10.1038/s41379-021-00905-8. PMID: 34599283Free PMC Article
Picarsic J, Reyes-Múgica M
Appl Immunohistochem Mol Morphol 2015 May-Jun;23(5):313-26. doi: 10.1097/PAI.0000000000000068. PMID: 25390357
Adzick NS
Clin Perinatol 2003 Sep;30(3):481-92. doi: 10.1016/s0095-5108(03)00047-2. PMID: 14533890

Clinical prediction guides

Dehner LP, Schultz KAP, Hill DA
Pediatr Dev Pathol 2023 May-Jun;26(3):241-249. Epub 2023 Feb 21 doi: 10.1177/10935266221146823. PMID: 37334833
Nelson AT, Dybvik A, Mallinger P, Weiss McQuaid S, Watson D, Harney LA, Stewart DR, Dehner LP, Messinger YH, Kunin-Batson AS, Schultz KAP
Pediatr Blood Cancer 2023 Apr;70(4):e30077. Epub 2022 Nov 24 doi: 10.1002/pbc.30077. PMID: 36424733Free PMC Article
Guillerman RP, Foulkes WD, Priest JR
Pediatr Radiol 2019 Oct;49(11):1488-1505. Epub 2019 Oct 16 doi: 10.1007/s00247-019-04429-x. PMID: 31620849
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J
Klin Onkol 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. PMID: 31409088
Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, Wick MR, Dehner LP
Cancer 1988 Oct 15;62(8):1516-26. doi: 10.1002/1097-0142(19881015)62:8<1516::aid-cncr2820620812>3.0.co;2-3. PMID: 3048630

Recent systematic reviews

Cai S, Zhao W, Nie X, Abbas A, Fu L, Bihi S, Feng G, Liu T, Lv Y, Ma X, Peng X
J Pediatr Hematol Oncol 2017 Jul;39(5):355-361. doi: 10.1097/MPH.0000000000000715. PMID: 27906793
Casagrande A, Pederiva F
J Thorac Oncol 2016 Nov;11(11):1837-1845. Epub 2016 Jul 15 doi: 10.1016/j.jtho.2016.06.023. PMID: 27423390

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