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DICER1-related tumor predisposition(PPB; PPBFTDS)

MedGen UID:
825667
•Concept ID:
C3839822
•
Neoplastic Process
Synonyms: DICER1 syndrome; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
SNOMED CT: DICER1 syndrome (702411003); Pleuropulmonary blastoma familial tumor and dysplasia syndrome (702411003); Pleuropulmonary blastoma family tumor susceptibility syndrome (702411003)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0100216
OMIM®: 601200; 606241
Orphanet: ORPHA284343

Authors:

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDICER1-related tumor predisposition

Professional guidelines

PubMed

DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.
Schultz KAP, Harris AK, Finch M, Dehner LP, Brown JB, Gershenson DM, Young RH, Field A, Yu W, Turner J, Cost NG, Schneider DT, Stewart DR, Frazier AL, Messinger Y, Hill DA
Gynecol Oncol 2017 Dec;147(3):521-527. Epub 2017 Oct 14 doi: 10.1016/j.ygyno.2017.09.034. PMID: 29037807Free PMC Article

Recent clinical studies

Etiology

DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Nelson AT, Mallinger PHR, Harris AK, Kamihara J, Baldinger S, Chen KS, Pond D, Hatton JN, Dybvik AG, Mitchell SG, Perrino MR, Ben-Ami T, Kachanov D, Su Y, Duan C, Olson DR, Watson D, Field AL, Harney LA, Garrity Carr A, Frazier AL, Schneider DT, Wilson DB, MacFarland SP, Schoettler PJ, Bauer AJ, Dehner LP, Hill DA, Stewart DR, Messinger YH
Clin Cancer Res 2024 Dec 16;30(24):5681-5692. doi: 10.1158/1078-0432.CCR-24-1532. PMID: 39400264Free PMC Article
Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries.
Nelson AT, Harris AK, Watson D, Kamihara J, Chen KS, Stall JN, Devins KM, Young RH, Olson DR, Mallinger PHR, Mitchell SG, Hoffman LM, Halliday G, Suleymanova AM, Glade Bender JL, Messinger YH, Herzog CE, Field AL, Frazier AL, Stewart DR, Dehner LP, Hill DA, Billmire DF, Schneider DT, Schultz KAP
Gynecol Oncol 2024 Jul;186:117-125. Epub 2024 Apr 23 doi: 10.1016/j.ygyno.2024.04.005. PMID: 38657450Free PMC Article
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR
Hum Mutat 2023;2023 Epub 2023 Mar 29 doi: 10.1155/2023/9537832. PMID: 38084291Free PMC Article
Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
Hagedorn KN, Nelson AT, Towbin AJ, Frederickson N, Mallinger P, Lucas JT Jr, Dehner LP, Messinger YH, Shulkin BL, Mize WA, Schultz KAP
Pediatr Blood Cancer 2023 Nov;70(11):e30628. Epub 2023 Aug 17 doi: 10.1002/pbc.30628. PMID: 37592371Free PMC Article

Diagnosis

DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Nelson AT, Mallinger PHR, Harris AK, Kamihara J, Baldinger S, Chen KS, Pond D, Hatton JN, Dybvik AG, Mitchell SG, Perrino MR, Ben-Ami T, Kachanov D, Su Y, Duan C, Olson DR, Watson D, Field AL, Harney LA, Garrity Carr A, Frazier AL, Schneider DT, Wilson DB, MacFarland SP, Schoettler PJ, Bauer AJ, Dehner LP, Hill DA, Stewart DR, Messinger YH
Clin Cancer Res 2024 Dec 16;30(24):5681-5692. doi: 10.1158/1078-0432.CCR-24-1532. PMID: 39400264Free PMC Article
Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries.
Nelson AT, Harris AK, Watson D, Kamihara J, Chen KS, Stall JN, Devins KM, Young RH, Olson DR, Mallinger PHR, Mitchell SG, Hoffman LM, Halliday G, Suleymanova AM, Glade Bender JL, Messinger YH, Herzog CE, Field AL, Frazier AL, Stewart DR, Dehner LP, Hill DA, Billmire DF, Schneider DT, Schultz KAP
Gynecol Oncol 2024 Jul;186:117-125. Epub 2024 Apr 23 doi: 10.1016/j.ygyno.2024.04.005. PMID: 38657450Free PMC Article
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR
Hum Mutat 2023;2023 Epub 2023 Mar 29 doi: 10.1155/2023/9537832. PMID: 38084291Free PMC Article
Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
Hagedorn KN, Nelson AT, Towbin AJ, Frederickson N, Mallinger P, Lucas JT Jr, Dehner LP, Messinger YH, Shulkin BL, Mize WA, Schultz KAP
Pediatr Blood Cancer 2023 Nov;70(11):e30628. Epub 2023 Aug 17 doi: 10.1002/pbc.30628. PMID: 37592371Free PMC Article

Therapy

Pleuropulmonary blastoma and DICER1-related tumor predisposition: from clinicopathologic observations to clinical trial.
Nelson AT, Chen KS, Schultz KAP
Curr Opin Pediatr 2025 Feb 1;37(1):48-55. Epub 2024 Dec 6 doi: 10.1097/MOP.0000000000001431. PMID: 39699100Free PMC Article

Prognosis

Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries.
Nelson AT, Harris AK, Watson D, Kamihara J, Chen KS, Stall JN, Devins KM, Young RH, Olson DR, Mallinger PHR, Mitchell SG, Hoffman LM, Halliday G, Suleymanova AM, Glade Bender JL, Messinger YH, Herzog CE, Field AL, Frazier AL, Stewart DR, Dehner LP, Hill DA, Billmire DF, Schneider DT, Schultz KAP
Gynecol Oncol 2024 Jul;186:117-125. Epub 2024 Apr 23 doi: 10.1016/j.ygyno.2024.04.005. PMID: 38657450Free PMC Article
Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
Hagedorn KN, Nelson AT, Towbin AJ, Frederickson N, Mallinger P, Lucas JT Jr, Dehner LP, Messinger YH, Shulkin BL, Mize WA, Schultz KAP
Pediatr Blood Cancer 2023 Nov;70(11):e30628. Epub 2023 Aug 17 doi: 10.1002/pbc.30628. PMID: 37592371Free PMC Article

Clinical prediction guides

Pleuropulmonary blastoma and DICER1-related tumor predisposition: from clinicopathologic observations to clinical trial.
Nelson AT, Chen KS, Schultz KAP
Curr Opin Pediatr 2025 Feb 1;37(1):48-55. Epub 2024 Dec 6 doi: 10.1097/MOP.0000000000001431. PMID: 39699100Free PMC Article
Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
Hagedorn KN, Nelson AT, Towbin AJ, Frederickson N, Mallinger P, Lucas JT Jr, Dehner LP, Messinger YH, Shulkin BL, Mize WA, Schultz KAP
Pediatr Blood Cancer 2023 Nov;70(11):e30628. Epub 2023 Aug 17 doi: 10.1002/pbc.30628. PMID: 37592371Free PMC Article

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