Myeloid Sarcoma in Patients with RUNX1/RUNX1T1 Positive AML and a c-kit Mutation.
- Author:
Yu Seon YUN
1
;
Seung Hwa CHOI
;
Sun Hong YOO
;
Jin Sok YU
;
Ji Eun LEE
;
Hee Je KIM
;
Woo Sung MIN
Author Information
1. Department of Internal Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea School of Medicine, Seoul, Korea. cumckim@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Acute myeloid leukemia;
RUNX1-RUNX1T1 protein, human;
protooncogene C-kit;
Myeloid sarcoma
- MeSH:
Bone Marrow;
Chromosome Aberrations;
Core Binding Factor Alpha 2 Subunit;
Humans;
Incidence;
Leukemia;
Leukemia, Myeloid, Acute;
Oncogene Proteins, Fusion;
Prognosis;
Protein-Tyrosine Kinases;
Proto-Oncogenes;
Recurrence;
Sarcoma, Myeloid;
Stem Cells
- From:Korean Journal of Medicine
2011;81(4):517-525
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
t (8;21)(q22;q22) is the most frequently detected cytogenetic abnormality in patients with acute myeloid leukemia (AML) and accounts for 8-21% of de novo AML. The translocation involves two genes, RUNX1 (formerly AML1) on 21q22 and RUNX1T1 (ETO) on 8q22. RUNX1/RUNX1T1 translocation confers a favorable prognosis, but a subset of patients has a precipitous course with a high incidence of relapse. This patient subset is associated with the presence of a c-kit mutation. c-kit is a proto-oncogene, which encodes a type III transmembrane tyrosine kinase, which elicits a variety of cellular responses essential for the development of bone marrow stem cells. The expression of the c-kit mutation in AML is < 2%, whereas AML with RUNX1/RUNX1T1 shows higher rates of c-kit mutation and is associated with extramedullary leukemia and poor clinical outcome. We report cases of myeloid sarcoma in patients with RUNX1/RUNX1T1-positive AML and a c-kit mutation.
