[Hereditary diseases with propensity to myeloid malignancy].

Abstract

Hematological malignancy is known to be associated with Down syndrome (DS), neurofibromatosis type 1 (NF1) and congenital bone marrow failure syndromes (CBMFS). Although many responsible germ-cell mutations have been identified, the secondary mutations that are responsible for the development of myelodysplastic syndrome and acute myelogenous leukemia (MDS/AML) have not been determined. Additional chromosomal abnormalities such as monosomy 7 and trisomy 21 are often observed in the progression to MDS/AML, and the critical genes for monosomy 7 have recently been reported. In this review, we briefly present recent findings regarding DS, NF1 and CBMFS with a tendency for malignant transformation; Fanconi anemia, familial platelet disorder with propensity to myeloid malignancy and congenital severe neutropenia.

• Authors: Hiroshi Yagasaki, Hideo Mugishima
• Journal: Nihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 67 Issue 10 Pg. 1884-8 (Oct 2009) ISSN: 0047-1852 [Print] Japan
• PMID: 19860184 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Blood Platelet Disorders (complications, genetics)
• Chromosome Aberrations
• Down Syndrome (complications, genetics)
• Fanconi Anemia (complications, genetics)
• Germ Cells
• Humans
• Leukemia, Myeloid (etiology, genetics)
• Mutation
• Neurofibromatosis 1 (complications, genetics)
• Neutropenia (complications, congenital, genetics)