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Hematologic Neoplasm with Germline Predisposition Associated with a Constitutional Platelet Disorder

MedGen UID:
1654740
•Concept ID:
C4726543
•
Neoplastic Process
Synonyms: Hematologic Neoplasm with Germline Predisposition and Preexisting Platelet Disorder; Myeloid Neoplasm with Germline Predisposition and Preexisting Platelet Disorder

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHematologic Neoplasm with Germline Predisposition Associated with a Constitutional Platelet Disorder

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
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC
Nat Commun 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691. PMID: 25849990Free PMC Article

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

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