Incidence and prognosis of c‐KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias

• Published in: British journal of haematology 2003-06, Vol.121 (5), p.775-777
• Main Authors: Care, Rory S., Valk, Peter J. M., Goodeve, Anne C., Abu‐Duhier, Faisel M., Geertsma‐Kleinekoort, Wendy M. C., Wilson, Giu A., Gari, Mamdooh A., Peake, Ian R., Löwenberg, Bob, Reilly, John T.
• Format: Article
• Language: English
• Subjects: Acute Disease; Adolescent; Adult; Aged; Aged, 80 and over; AML; Biological and medical sciences; CBF; c‐KIT; Female; FLT3; Hematologic and hematopoietic diseases; Hematology; Humans; inv; Leukemia, Myeloid - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Membrane Proteins - genetics; Middle Aged; Mutation - genetics; Prognosis; Proto-Oncogene Proteins c-kit - genetics; Recurrence; Survival Analysis
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2003.04362.x

DNA from 110 adult de novo acute myeloid leukaemia (AML) patients exhibiting either inv(16) (n = 63) or t(8;21) (n = 47) was screened for mutations in the c‐KIT (exon 8 and Asp816) and FLT3 (ITD and Asp835) genes. c‐KIT exon 8 mutations were found in 15/63 (23·8%) inv(16) patients and 1/47 (2·1%) t(8;21) patients. c‐KIT Asp816 mutations were present in 5/63 (7·9%) inv(16) AML and 5/47 (10·6%) t(8;21) AML. FLT3 mutations were identified in five patients (7·9%) with inv(16) and three patients (5·6%) with t(8;21) AML. All mutations were mutually exclusive; 40% of inv(16) AML patients possessed either a c‐KIT or FLT3 mutation. c‐KIT exon 8 mutations were shown to be a significant factor adversely affecting relapse rate.