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

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.

• Authors: Miharu Yabe, Atsuko Masukawa, Shunichi Kato, Hiromasa Yabe, Naoya Nakamura, Hiromichi Matsushita
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 59 Issue 7 Pg. 1313-6 (Dec 15 2012) ISSN: 1545-5017 [Electronic] United States
• PMID: 22847983 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Chemical References

• Proto-Oncogene Proteins c-kit

Topics

• Child, Preschool
• Chromosomes, Human, Pair 21
• Chromosomes, Human, Pair 8
• Female
• Humans
• Leukemia, Myeloid, Acute (complications, genetics)
• Mastocytosis, Systemic (complications, genetics)
• Mutation
• Proto-Oncogene Proteins c-kit (genetics)
• Translocation, Genetic