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Myeloid Neoplasms with Germline Predisposition and Preexisting Platelet Disorders

MedGen UID:
1654740
•Concept ID:
C4726543
•
Neoplastic Process

Definition

Myeloid neoplasms associated with germline mutations and familial platelet disorders. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid Neoplasms with Germline Predisposition and Preexisting Platelet Disorders

Recent clinical studies

Etiology

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.
Arai H, Matsui H, Chi S, Utsu Y, Masuda S, Aotsuka N, Minami Y
Int J Mol Sci 2024 Jan 4;25(1) doi: 10.3390/ijms25010652. PMID: 38203823Free PMC Article
Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A, Kiss R, Vályi-Nagy I, Csomor J, Matolcsy A, Bödör C
Pathol Oncol Res 2018 Jan;24(1):83-88. Epub 2017 Mar 29 doi: 10.1007/s12253-017-0216-4. PMID: 28357685

Diagnosis

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.
Arai H, Matsui H, Chi S, Utsu Y, Masuda S, Aotsuka N, Minami Y
Int J Mol Sci 2024 Jan 4;25(1) doi: 10.3390/ijms25010652. PMID: 38203823Free PMC Article
Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis.
Reinig EF, Rubinstein JD, Patil AT, Schussman AL, Horner VL, Kanagal-Shamanna R, Churpek JE, Matson DR
Leukemia 2023 Aug;37(8):1589-1599. Epub 2023 Jul 1 doi: 10.1038/s41375-023-01955-4. PMID: 37393344Free PMC Article

Prognosis

Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A, Kiss R, Vályi-Nagy I, Csomor J, Matolcsy A, Bödör C
Pathol Oncol Res 2018 Jan;24(1):83-88. Epub 2017 Mar 29 doi: 10.1007/s12253-017-0216-4. PMID: 28357685

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