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KMID : 0882420110810040517
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Korean Journal of Medicine
2011 Volume.81 No. 4 p.517 ~ p.525
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Myeloid Sarcoma in Patients with RUNX1/RUNX1T1 Positive AML and a c-kit Mutation
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Yun Yu-Seon
Choi Seung-Hwa
Yoo Sun-Hong
Yu Jin-Sok
Lee Ji-Eun
Kim Hee-Je
Min Woo-Sung
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Abstract
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(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.
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KEYWORD
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Acute myeloid leukemia, RUNX1-RUNX1T1 protein, human, protooncogene C-kit, Myeloid sarcoma
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