A Case of Concomitant Inv(3)(q21q26) and Cryptic BCR/ABL1 Rearrangement in the Blast Crisis of Chronic Myeloid Leukemia.
- Author:
Hyejin LEE
1
;
Chihyun CHO
;
Min Jung KWON
;
Myung Hyun NAM
;
Chang Kyu LEE
;
Young Kee KIM
Author Information
- Publication Type:Case Report
- Keywords: inv(3)(q21q26); cryptic BCR/ABL1 rearrangement; CML
- MeSH: Adolescent; Arm; Benzamides; Blast Crisis; Bone Marrow; Chromosomes, Human, Pair 3; Cytogenetic Analysis; Eosinophilia; Hematologic Neoplasms; Humans; Hyperplasia; Induction Chemotherapy; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Leukocytes; Leukocytosis; Male; Megakaryocytes; Philadelphia Chromosome; Piperazines; Platelet Count; Pyrimidines; Thrombocytosis; Imatinib Mesylate
- From:Laboratory Medicine Online 2011;1(3):163-167
- CountryRepublic of Korea
- Language:Korean
- 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.
