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Most acute myeloid leukaemia patients with intermediate mutant FLT3 /ITD levels do not have detectable bi‐allelic disease, indicating that heterozygous disease alone is associated with an adverse outcome
Author(s) -
Green Claire,
Linch David C.,
Gale Rosemary E.
Publication year - 2008
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 - 10.1111/j.1365-2141.2008.07196.x
Subject(s) - allele , mutant , disease , heterozygote advantage , loss of heterozygosity , biology , mutation , myeloid , immunology , population , medicine , genetics , gene , environmental health
Summary FLT3 internal tandem duplication mutant levels >50%, indicative of bi‐allelic disease in some cells, are associated with a particularly poor prognosis in acute myeloid leukaemia; lower levels have an intermediate prognosis relative to wild‐type FLT3 . To examine whether a small population of homozygous mutant cells is responsible for the worse relapse risk rather than heterozygous disease per se , we determined the genetic composition of 34 intermediate mutant level (25–50%) samples. Only two had evidence of mutant homozygosity; only one had more homozygous than heterozygous mutant cells. Bi‐allelic disease in intermediate mutant level cases is uncommon and heterozygous disease is sufficient for adverse outcome.