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

doi:10.1002/pbc.24250

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 journal › Article › peer-review

11 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 language	English
Pages (from-to)	1313-1316
Number of pages	4
Journal	Pediatric Blood and Cancer
Volume	59
Issue number	7
DOIs	https://doi.org/10.1002/pbc.24250
Publication status	Published - 2012 Dec 15
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

Access to Document

10.1002/pbc.24250

Cite this

@article{6eec2b60c66d4ed1a726cb9f0e8959dd,

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.",

keywords = "c-KIT mutation, Pediatric AML, Systemic mastocytosis, T(8 ;21)",

author = "Miharu Yabe and Atsuko Masukawa and Shunichi Kato and Hiromasa Yabe and Naoya Nakamura and Hiromichi Matsushita",

year = "2012",

month = dec,

day = "15",

doi = "10.1002/pbc.24250",

language = "English",

volume = "59",

pages = "1313--1316",

journal = "Medical and Pediatric Oncology",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

number = "7",

}

TY - JOUR

T1 - Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child

T2 - Detection of the D816A mutation of KIT

AU - Yabe, Miharu

AU - Masukawa, Atsuko

AU - Kato, Shunichi

AU - Yabe, Hiromasa

AU - Nakamura, Naoya

AU - Matsushita, Hiromichi

PY - 2012/12/15

Y1 - 2012/12/15

N2 - 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.

AB - 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.

KW - c-KIT mutation

KW - Pediatric AML

KW - Systemic mastocytosis

KW - T(8 ;21)

UR - http://www.scopus.com/inward/record.url?scp=84867383964&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867383964&partnerID=8YFLogxK

U2 - 10.1002/pbc.24250

DO - 10.1002/pbc.24250

M3 - Article

C2 - 22847983

AN - SCOPUS:84867383964

SN - 1545-5009

VL - 59

SP - 1313

EP - 1316

JO - Medical and Pediatric Oncology

JF - Medical and Pediatric Oncology

IS - 7

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this