Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: Detection of the D816A mutation of KIT

Miharu Yabe, Atsuko Masukawa, Shunichi Kato, Hiromasa Yabe, Naoya Nakamura, Hiromichi Matsushita

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

Systemic mastocytosis (SM) associated with t(8;21) acute myeloid leukemia (AML) is very rare, and the D816 mutation of the KIT gene has previously been detected only in adult patients. We herein report the case of a 5-year-old female presenting with AML harboring t(8;21)(q22;q22). Her AML was refractory to chemotherapy, and bone marrow mastocytosis developed simultaneously at the initial diagnosis and during chemotherapy. The D816A mutation of KIT was detected. SM associated with t(8;21) AML, accompanied by a KIT mutation in children may result in a poor prognosis, despite the fact that t(8;21) AML are generally considered to have a favorable risk.

Original languageEnglish
Pages (from-to)1313-1316
Number of pages4
JournalPediatric Blood and Cancer
Volume59
Issue number7
DOIs
Publication statusPublished - 2012 Dec 15
Externally publishedYes

Keywords

  • c-KIT mutation
  • Pediatric AML
  • Systemic mastocytosis
  • T(8 ;21)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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