Abstract
KIT mutations are observed in about 20–40% of acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 [abbreviated AML t(8;21) here] with mutations involving exon 17 being the most common. Despite high frequencies of KIT mutations in both AML t(8;21) and systemic mastocytosis (SM), AML t(8;21) associated with SM is uncommon, and restricted to KIT exon 17 mutated cases. In this study, we report two cases of AML t(8;21) associated SM that KIT mutation occurred in exon 8 (T417_D419delinsY). In both patients, the bone marrow displayed increased round/ovoid mast cells with bilobated nuclei and absence of CD2 and CD25 expression. RUNX1/RUNX1T1 fusion was shown in both myeloblasts and mast cells by FISH. Patient #1 was refractory to induction chemotherapy and died at day 50; patient #2 had residual AML, marked SM, and persistent RUNX1/RUNX1T1 fusion after induction therapy.
Original language | English (US) |
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Pages (from-to) | 131-136 |
Number of pages | 6 |
Journal | Experimental and Molecular Pathology |
Volume | 108 |
DOIs | |
State | Published - Jun 2019 |
Keywords
- Acute myeloid leukemia
- KIT exon 8 mutation
- Mastocytosis
- t(8;21)
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Molecular Biology
- Clinical Biochemistry