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

Wei Xie, Sa A. Wang, C. Cameron Yin, Jie Xu, Shaoying Li, Carlos E. Bueso-Ramos, L. Jeffrey Medeiros, Guilin Tang

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)131-136
Number of pages6
JournalExperimental and Molecular Pathology
Volume108
DOIs
StatePublished - Jun 2019
Externally publishedYes

Keywords

  • Acute myeloid leukemia
  • KIT exon 8 mutation
  • Mastocytosis
  • t(8;21)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Clinical Biochemistry

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