A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies

Citation
A. Buijs et al., A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies, BLOOD, 98(9), 2001, pp. 2856-2858
Citations number
8
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
BLOOD
ISSN journal
0006-4971 → ACNP
Volume
98
Issue
9
Year of publication
2001
Pages
2856 - 2858
Database
ISI
SICI code
0006-4971(20011101)98:9<2856:ANCSMI>2.0.ZU;2-S
Abstract
Hereditary mutations associated with hematologic malignancies are rare. Het erozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial pla telet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399). A new 3-generation family with FPD/AML with a novel CBFA2 mutation is described. In this family, AML was diagnosed in a second-generation mal e. After allogeneic stem cell transplantation from his human leukocyte anti gen-identical sister, a donor-derived, genetically identical leukemia devel oped in the recipient and the donor. Sequencing analysis identified a G-to- T transition within the CBFA2 gene, which involves codon 198, encoding a co nserved aspartic acid within the DNA-binding Runt domain. Three of 5 siblin gs affected with the FPD/AML trait harbored the mutation in a heterozygous form. This experience underscores the necessity of performing mutation anal ysis of the CBFA2 gene before sibling allogeneic transplantation in familie s with FPD/AML. (C) 2001 by The American Society of Hematology.