c-kit 돌연변이가 동반된 RUNX1/RUNX1T1 양성 급성골수성백혈병에서의 골수육종
Myeloid Sarcoma in Patients with RUNX1/RUNX1T1 Positive AML and a c-kit Mutation
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RUNX1-RUNX1T1 양성 AML에서 c-kit 돌연변이와 골수외 백혈병의 발생은 밀접한 상관관계가 있으며 고식적 치료법에 저항성을 나타내고 궁극적으로 매우 나쁜 예후를 보인다. 그러므로 임상적으로 골수외 백혈병이 동반된 AML 환자에서 c-kit 돌연변이 여부를 확인하고 고위험군으로 분류하여 더욱 적극적인 치료를 시행해야겠다. 저자들은 최근 t (8;21) (q22;q22);RUNX1-RUNX1T1 양성 AML 환자에서 c-kit 유전자 돌연변이와 골수외 백혈병이 동반된 3예를 임상 경험하여 문헌고찰와 함께 보고하는 바이다.
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. (Korean J Med 2011;81:517-525)
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