Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome

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

Synonyms:

Hematologic Neoplasm Associated with Inherited Bone Marrow Failure Syndrome; Myeloid Neoplasm Associated with Inherited Bone Marrow Failure Syndrome; Myeloid Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome

Disease
- Neoplasm
  - Malignant neoplastic disease
    - Hereditary cancer
      - Hematologic Neoplasm with Germline Predisposition
        Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Disorder Affecting Multiple Organ Systems
        Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome

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

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: 31203998 Free PMC Article

See all (6)

Diagnosis

Myelodysplastic neoplasms evolving from inherited bone marrow failure syndromes / germline predisposition syndromes: Back under the microscope.

Elghetany MT, Patnaik MM, Khoury JD
Leuk Res 2024 Feb;137:107441. Epub 2024 Jan 23 doi: 10.1016/j.leukres.2024.107441. PMID: 38301422