Clathrin Assembly Lymphoid Myeloid Leukemia-AF10-positive Acute Leukemias: A Report of 2 Cases with a Review of the Literature
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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. (Korean J Lab Med 2010;30:117-21)
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. (Korean J Lab Med 2010;30:117-21)
참고문헌 (14)
- Bohlander SK, "Molecular analysis of the CALM", AF10 fusion:identical rearrangements in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma patients, 2000, pp.14, 93~99
- Jones LK, "Identification and molecular characterisation of a CALM-AF10 fusion in acute megakaryoblastic leukaemia", Leukemia, 15, pp.910~914 (2001)
- Nakamura F, "Monocytic leukemia with CALM", AF10 rearrangement showing mediastinal emphysema, 2003, pp.72, 138~142
- Caudell D, "The role of CALM-AF10 gene fusion in acute leukemia", Leukemia, 22, pp.678~685 (2008)
- Carlson KM, "Identification and molecular characterization of CALM", AF10fusion products in T cell acute lymphoblastic leukemia and acute myeloid leukemia, 2000, pp.14, 100~104
- Kumon K, "Mixed-lineage leukemia with t(10;11)(p13;q21): an analysis of AF10-CALM and CALM-AF10 fusion mRNAs and clinical features", Genes Chromosomes Cancer, 25, pp.33~39 (1999)
- Asnafi V, "CALM-AF10 is a common fusion transcript in T-ALL and is specific to the TCRgammadelta lineage", Blood, 102, pp.1000~1006 (2003)
- Dik WA, "CALM-AF10+ T-ALL expression profiles are characterized by overexpression of HOXA and BMI1 oncogenes", Leukemia, 19, pp.1948~1957 (2005)
- Okada Y, "Leukaemic transformation by CALM-AF10 involves upregulation of Hoxa5 by hDOT1L", Nat Cell Biol, 8, pp.1017~1024 (2006)
- Kim KH, "Simultaneous reverse transcription-polymerase chain reaction for detection of 7 gene rearrangements in acute leukemia", Korean J Clin Pathol, 21, pp.24~33 (2001)
- Sundstrom C, "Establishment and characterization of a human histiocytic lymphoma cell line (U-937)", Int J Cancer, 17, pp.565~577 (1976)
- Sitwala KV, "HOX proteins and leukemia", Int J Clin Exp Pathol, 1, pp.461~474 (2008)
- Okada Y, "hDOT1L links histone methylation to leukemogenesis", Cell, 121, pp.167~178 (2005)
- Van Vlierberghe P, "The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia", Blood, 111, pp.4668~4680 (2008)