title: The prognostic impact of c-KIT mutation in systemic mastocytosis associated with acute myeloid leukaemia patients.
abstract: We evaluate the haematopathologic features of systemic mastocytosis associated with acute myeloid leukaemia (SM-AML) and the prognostic role of c-KIT mutation. Total 11 patients were enrolled. Cytochemistry using toluidine blue and tryptase was positive, as was immunohistochemistry for CD117 and CD25 on clustered mast cells; however, CD2 was expressed in only nine cases. In 10 cases, RUNX1-RUNX1T1 fusion gene was detected, and one patient presented with a t(5;6)(q22;q23) translocation at diagnosis. The c-KIT mutation D816V was detected in six patients. Patients with c-KIT mutations had higher relapse and death rates than those without; 4/5 (80.0%) and 5/6 (83.3%) vs. 1/5 (20%) and 2/5 (40%), respectively. Overall survival was also significantly shorter in cases with, than those without, c-KIT mutations. To identify rare cases of SM-AML, which have a dismal prognosis, c-KIT mutation study and careful examination for the presence of clustered mast cell infiltration by immunochemistry should be performed.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Republic of Korea.
authors.forename: Dahae
authors.initials: D
authors.lastname: Won
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Hyoeun
authors.initials: H
authors.lastname: Shim
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Je-Hwan
authors.initials: JH
authors.lastname: Lee
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D018801:CD2 Antigens / Q000378:metabolism; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007951:Leukemia, Myeloid / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008407:Mast Cells / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D015514:Oncogene Proteins, Fusion; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D000075142:RUNX1 Translocation Partner 1 Protein; D012008:Recurrence; D016019:Survival Analysis; D014178:Translocation, Genetic; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C107844:AML1-ETO fusion protein, human; D018801:CD2 Antigens; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D019009:Proto-Oncogene Proteins c-kit