Inv(3)(q21q26)과 BCR/ABL1 잠재전이가 함께 관찰된 모세포위기 만성골수성백혈병 1예
A Case of Concomitant Inv(3)(q21q26) and Cryptic BCR/ABL1 Rearrangement in the Blast Crisis of Chronic Myeloid Leukemia
이혜진, 조치현, 권민정, 남명현, 이창규, 김영기,
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이혜진 ( Lee Hye-Jin )
고려대학교 의과대학 진단검사의학교실
조치현 ( Cho Chi-Hyun )
고려대학교 의과대학 진단검사의학교실
권민정 ( Kwon Min-Jung )
고려대학교 의과대학 진단검사의학교실
남명현 ( Nam Myung-Hyun )
고려대학교 의과대학 진단검사의학교실
이창규 ( Lee Chang-Kyu )
고려대학교 의과대학 진단검사의학교실
김영기 ( Kim Young-Kee )
고려대학교 의과대학 진단검사의학교실
KMID : 1100820110010030163
Abstract
Structural abnormalities of the long arm of chromosome 3 (3q) have been associated with elevated platelet count and hyperplasia of megakaryocytes with dysplasia in various hematological malignancies. Some cases of chronic myeloid leukemia (CML) may acquire inv(3) (q21q26) or t(3;3)(q21;q26), and such a finding usually indicates accelerated or blast phase of their disease. We report a case of concomitant inv(3) (q21q26) and cryptic BCR/ABL1 rearrangement in the blast crisis of CML. The patient was 17-year-old male and showed marked leukocytosis and thrombocytosis at admission. Leukocyte differentials showed eosinophilia, basophilia and increased blasts. The bone marrow was hypercellular with granulocytic hyperplasia, and dysmorphic megakaryocytes were frequently observed. Conventional cytogenetic analysis revealed only an inv(3)(q21q26) and no Philadelphia chromosome was observed. FISH and RT-PCR analyses confirmed cryptic BCR/ABL1 rearrangement. The patient responded poorly with imatinib and induction chemotherapy, and expired during the course of 2nd chemotherapy with increased dose of imatinib.
키워드
inv(3)(q21q26); cryptic BCR/ABL1 rearrangement; CML
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