title: 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: Department of Cell Transplantation, Tokai University Hospital, Shimokasuya, Isehara, Kanagawa, Japan. miharu@is.icc.u-tokai.ac.jp
authors: Miharu
authors: M
authors: Yabe
authors: Atsuko
authors: A
authors: Masukawa
authors: Shunichi
authors: S
authors: Kato
authors: Hiromasa
authors: H
authors: Yabe
authors: Naoya
authors: N
authors: Nakamura
authors: Hiromichi
authors: H
authors: Matsushita
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000235:genetics; D034721:Mastocytosis, Systemic / Q000150:complications* / Q000235:genetics; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D019009:Proto-Oncogene Proteins c-kit