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Korean J Lab Med. 2010 Apr;30(2):117-121. English. Case Report. https://doi.org/10.3343/kjlm.2010.30.2.117
Huh JY , Chung S , Oh D , Kang MS , Eom HS , Cho EH , Han MH , Kong SY .
Department of Laboratory Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
Department of Internal Medicine, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
Department of Laboratory Medicine, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
Hematologic Malignancies Branch, Research Institute, National Cancer Center, Goyang, Korea. ksy@ncc.re.kr
Hematology Oncology Clinic, National Cancer Center, Goyang, Korea.
Greencross Reference Laboratory, Yongin, Korea.
Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.
Abstract

The translocation t(10;11)(p13;q14q21) has been found to be recurrent in acute lymphoblastic and myeloid leukemias, and results in the fusion of the clathrin assembly lymphoid myeloid leukemia (CALM) gene with the AF10 gene; these genes are present on chromosomes 11 and 10, respectively. Because the CALM-AF10 rearrangement is a rare chromosomal abnormality, it is not included in routine molecular tests for acute leukemia. Here, we describe the cases of 2 patients with the CALM-AF10 fusion gene. The first patient (case 1) was diagnosed with T-cell ALL, and the second patient (case 2) was diagnosed with AML. Both patient samples showed expression of the homeobox A gene cluster and the histone methyltransferase hDOT1L, which suggests that they mediate leukemic transformation in CALM-AF10-positive and mixed-lineage leukemia-AF10-positive leukemias. Both patients achieved complete remission after induction chemotherapy. The first patient (case 1) relapsed after double-unit cord blood transplantation; there was no evidence of relapse in the second patient (case 2) after allogenic peripheral blood stem cell transplantation. Since CALM-AF10- positive leukemias have been shown to have poor prognosis with conventional therapy, molecular tests for CALM-AF10 rearrangement would be necessary to detect minimal residual disease during follow-up.

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