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A case of refractory anaemia with p53 point mutation at codon 249 (AGG to ATG)
Author(s) -
Kikukawa Masayuki,
Aoki Naoto,
Mori Mayumi
Publication year - 1996
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1996.429967.x
Subject(s) - point mutation , mutation , myelodysplastic syndromes , medicine , cancer research , gene , genetics , biology , bone marrow
Although mutations of the p53 tumour‐suppressor gene have been observed occasionally in the advanced stages of myelodysplastic syndromes (MDS), they have not been detected in early refractory anaemia (RA) or RA with ring sideroblasts phases. Using single‐strand conformation polymorphism analysis and direct sequencing, we searched for p53 mutations in a patient who progressed from RA to overt leukaemia. A p53 mutation at codon 249 (AGG to ATG) was observed in RA, RA with excess of blasts in transformation and overt leukaemia. We describe a case of MDS with p53 mutation at codon 249 detected in the RA phase.