A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement
2
조회
0
다운로드
0
인용
0
참고문헌
초록
Dear Editor, The translocation (9;12)(q34;p13) ETV6/ABL1 rearrangement is a rare but recurrent chromosomal translocation associated with a variety of hematological malignancies, including CML, atypical CML, AML, and ALL [1]. The structure of the ETV6/ABL1 oncoprotein is similar to that of BCR/ABL1, and they initiate similar downstream pathways [2]. There are two ETV6/ABL1 fusion isoforms: the type A isoform, which fuses ETV6 exon 4 with ABL1 exon 2; and the type B isoform, which fuses ETV6 exon 5 with ABL1 exon 2 [3, 4]. To date, 30 cases of ETV6/ABL1 fusion have been reported [5, 6], and only one of these cases resulted in CML with positive BCR/ABL1 rearrangement [7]. Herein, we report a rare case of CML with ETV6/ABL1 rearrangement.
Abstract
Dear Editor, The translocation (9;12)(q34;p13) ETV6/ABL1 rearrangement is a rare but recurrent chromosomal translocation associated with a variety of hematological malignancies, including CML, atypical CML, AML, and ALL [1]. The structure of the ETV6/ABL1 oncoprotein is similar to that of BCR/ABL1, and they initiate similar downstream pathways [2]. There are two ETV6/ABL1 fusion isoforms: the type A isoform, which fuses ETV6 exon 4 with ABL1 exon 2; and the type B isoform, which fuses ETV6 exon 5 with ABL1 exon 2 [3, 4]. To date, 30 cases of ETV6/ABL1 fusion have been reported [5, 6], and only one of these cases resulted in CML with positive BCR/ABL1 rearrangement [7]. Herein, we report a rare case of CML with ETV6/ABL1 rearrangement.
참고문헌 (10)
- De Braekeleer E, "ETV6 fusion genes in hematological malignancies: a review", Leuk Res, 36, pp.945~961 (2012)
- Malinge S, "Activation of the NF-kappaB pathway by the leukemogenic TEL-Jak2 and TEL-Abl fusion proteins leads to the accumulation of antiapoptotic IAP proteins and involves IKKalpha", Oncogene, 25, pp.3589~3597 (2006)
- Park J, "Variant of ETV6", ABL1 gene is associated with leukemia phenotype, 2013, pp.129, 78~82
- Million RP, "A direct binding site for Grb2 contributes to transformation and leukemogenesis by the Tel-Abl (ETV6-Abl) tyrosine kinase", Mol Cell Biol, 24, pp.4685~4695 (2004)
- Gancheva K, "Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review", Mol Cytogenet, 6, pp.39~ (2013)
- 송주선, "A Cryptic ETV6", ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia, 2014, pp.34(6), 475~477[DOI]
- Keung YK, "Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature", Cancer Genet Cytogenet, 138, pp.139~142 (2002)
- De Braekeleer E, "ABL1 fusion genes in hematological malignancies: a review", Eur J Haematol, 86, pp.361~371 (2011)
- La Starza R, "Clonal eosinophils are a morphologic hallmark of ETV6", ABL1 positive acute myeloid leukemia, 2002, pp.87, 789~794
- Perna F, "ETV6-ABL1-positive “chronic myeloid leukemia”: clinical and molecular response to tyrosine kinase inhibition", Haematologica, 96, pp.342~343 (2011)