Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13
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LETTER TO THE EDITOR
Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13) Ling Zhang 1 & Man Wang 1 & Zheng Wang 1 & Zhao Zeng 1 & Lijun Wen 1 & Yi Xu 1 & Li Yao 1 & Jiannong Cen 1 & Hongzhi Li 3 & Jinlan Pan 1 & Aining Sun 1 & Depei Wu 1,2 & Suning Chen 1,2 & Liang Ma 1 & Xiaofei Yang 1 Received: 3 June 2020 / Accepted: 27 July 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Keywords ETV6 . LINC02260 . MPN-U . Novel Dear Editor. Rearrangements involving the ETV6 gene at 12p13 are common in myeloid and lymphoid disorders [1]. Many fusion partners of ETV6 have been reported, frequently resulting in either chimeric proteins or activation of partner genes [2]. However, in some cases, functional fusion protein could not be identified, like ETV6 fusions with MDS2, PER1, and STL [3–5]. Here, we report the identification and characterization of the long intergenic non-protein coding RNA 2260 (LINC02260) as a novel fusion partner of ETV6 in an unclassified case of MPN (MPN-U), showing a karyotype of t (4;12) (q12; p13) but with no chimeric protein generated. A 69-year-old male was referred to our hospital in October 2018 due to hyperleukocytosis lasting more than 3 months. Peripheral blood (PB) values were white blood cell count 93.84 × 109/l with 90% neutrophils and monocytes 4.60 × Ling Zhang, Man Wang, Zheng Wang and Zhao Zeng contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00277-020-04207-y) contains supplementary material, which is available to authorized users. * Liang Ma [email protected] * Xiaofei Yang [email protected] 1
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, People’s Republic of China
2
Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, People’s Republic of China
3
Department of Molecular Medicine, Beckman Research Institute, City of Hope National Medical Center, Duarte, CA, USA
10^9/l, hemoglobin 8 g/dl, and thrombocytes 425 × 109/l. PB smear showed 1% myeloblasts, 2% promyelocytes, 25% myelocytes, 21% metamyelocytes, 2% eosinophils, 1% basophils, 3% monocytes, and 39% granulocytes. Bone marrow (BM) aspiration revealed markedly hypercellular but no dysplasia marrow with a predominance of segmented neutrophils, few immature granulocytes, 1% myeloblasts, 4.5% eosinophils, 0.5% basophils, and 2.5% monocytes (Fig. 1a). There was no increase in lymphocytes. Megakaryocytes were normal in number and morphology. BM biopsy confirmed these findings in addition to the presence of mild fibrosis (Grade 1).(Fig. 1b) Cytogenetic analysis of a diagnostic BM sample indicated a karyotype of 46,XY,t(4;12)(q12;p13) (Fig. 1c). BCR-ABL and other common leukemia-related fusions were not detected. Mutation analysis (a panel of 51 genes) (Table S1) identi
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