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Myeloid Neoplasms with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndromes

MedGen UID:
1670582
•Concept ID:
C4727844
•
Neoplastic Process

Definition

Familial myelodysplastic syndromes/ acute myeloid leukemias associated with inherited bone marrow failure syndromes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid Neoplasms with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndromes

Professional guidelines

PubMed

Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes.
Ansar S, Malcolmson J, Farncombe KM, Yee K, Kim RH, Sibai H
Genet Med 2022 Nov;24(11):2367-2379. Epub 2022 Sep 16 doi: 10.1016/j.gim.2022.08.010. PMID: 36112138
Squamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelines.
Scheckenbach K, Wagenmann M, Freund M, Schipper J, Hanenberg H
Klin Padiatr 2012 Apr;224(3):132-8. Epub 2012 Apr 13 doi: 10.1055/s-0032-1308989. PMID: 22504776Free PMC Article

Recent clinical studies

Etiology

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies.
Nie D, Zhang J, Wang F, Li X, Liu L, Zhang W, Cao P, Chen X, Zhang Y, Chen J, Ma X, Zhou X, Wu Q, Liu M, Liu M, Tian W, Liu H
Front Med 2022 Jun;16(3):459-466. Epub 2021 Nov 6 doi: 10.1007/s11684-021-0841-x. PMID: 34741701
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
Savage SA, Dufour C
Semin Hematol 2017 Apr;54(2):105-114. Epub 2017 Apr 7 doi: 10.1053/j.seminhematol.2017.04.004. PMID: 28637614

Diagnosis

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
Savage SA, Dufour C
Semin Hematol 2017 Apr;54(2):105-114. Epub 2017 Apr 7 doi: 10.1053/j.seminhematol.2017.04.004. PMID: 28637614

Therapy

Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.
Hofmann I, Avagyan S, Stetson A, Guo D, Al-Sayegh H, London WB, Lehmann L
Biol Blood Marrow Transplant 2020 Jun;26(6):1124-1130. Epub 2020 Feb 20 doi: 10.1016/j.bbmt.2020.02.015. PMID: 32088370Free PMC Article
Squamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelines.
Scheckenbach K, Wagenmann M, Freund M, Schipper J, Hanenberg H
Klin Padiatr 2012 Apr;224(3):132-8. Epub 2012 Apr 13 doi: 10.1055/s-0032-1308989. PMID: 22504776Free PMC Article

Prognosis

Squamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelines.
Scheckenbach K, Wagenmann M, Freund M, Schipper J, Hanenberg H
Klin Padiatr 2012 Apr;224(3):132-8. Epub 2012 Apr 13 doi: 10.1055/s-0032-1308989. PMID: 22504776Free PMC Article

Clinical prediction guides

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604

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