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  • Title: Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes.
    Author: Xie W, Wang SA, Yin CC, Xu J, Li S, Bueso-Ramos CE, Medeiros LJ, Tang G.
    Journal: Exp Mol Pathol; 2019 Jun; 108():131-136. PubMed ID: 31004601.
    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.
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