Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features

References

• Bain BJ, Horny H-P, Arber DA, et al. Myeloid/lymphoid neoplasms with eosinophilia and rearrangements of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, editor. WHO classification of tumours of haematopoietic and lymphoid tissues., revised 4th edition. Lyon: International Agency for Research on Cancer (IARC); 2017. p. 72–79.
   Google Scholar
• Jia W, Qiu K, He M, et al. SOAPfuse: an algorithm for identifying fusion transcripts from paired-end RNA-Seq data. Genome Biol. 2013;14:R12), doi:10.1186/gb-2013-14-2-r12.
   PubMed Web of Science ®Google Scholar
• Yagasaki F, Jinnai I, Yoshida S, et al. Fusion ofTEL/ETV6 to a novelACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). Genes, Chromosomes and Cancer. 1999;26:192–202.
   PubMed Web of Science ®Google Scholar
• Cools J, Mentens N, Odero MD, et al. Evidence for position effects as a variantETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13). Blood. 2002;99:1776–1784. doi:10.1182/blood.V99.5.1776.
   PubMed Web of Science ®Google Scholar
• Wlodarska I, La Starza R, Baens M, et al. Fluorescence In situ hybridization characterization of New translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies. Blood. 1998;91:1399–1406. doi:10.1182/blood.V91.4.1399.
   PubMed Web of Science ®Google Scholar
• Murati A, Adélaïde J, Gelsi-Boyer V, et al. T(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera. Leukemia. 2006;20:1175–1178. doi:10.1038/sj.leu.2404194.
   PubMed Web of Science ®Google Scholar
• Katsura Y, Suzukawa K, Nanmoku T, et al. Myelodysplastic syndrome accompanied by basophilia and eosinophilia with t(5;12)(q31;p13). Cancer Genet Cytogenet 2007;178:85–88. doi:10.1016/j.cancergencyto.2007.05.020.
   PubMedGoogle Scholar
• Erben P, Gosenca D, Muller MC, et al. Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. Haematologica. 2010;95:738–744. doi:10.3324/haematol.2009.016345.
   PubMed Web of Science ®Google Scholar
• Gosenca D, Erben P, Haferlach C, et al. Clinical and molecular heterogeneity of eosinophilia-associated myeloproliferative neoplasms with a translocation t(5;12). Blood. 2009;114:4983), doi:10.1182/blood.V114.22.4983.4983.
   Google Scholar
• Haferlach C, Bacher U, Schnittger S, et al. ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events. Genes, Chromosomes and Cancer. 2012;51:328–337. doi:10.1002/gcc.21918.
   PubMed Web of Science ®Google Scholar
• De Luca-Johnson J, Ninfea JIR, Pearson L, et al. Myeloid neoplasms with t(5;12) and ETV6-ACSL6 gene fusion, potential mimickers of myeloid neoplasm with PDGFRB rearrangement: case report with imatinib therapy and review of the literature. Case Rep Med. 2016;2016:1), doi:10.1155/2016/8324791.
   Google Scholar
• Su RJ, Jonas BA, Welborn J, et al. Chronic eosinophilic leukemia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: A novel variant of myeloid proliferative neoplasm with eosinophilia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: a novel variant of myeloid proliferative neoplasm with eosinophilia. Hum Pathol (N Y). 2016;5:6–9. doi:10.1016/j.ehpc.2015.10.001.
   PubMedGoogle Scholar
• Wu X, Cai H, Qiu Y, et al. ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes. Orphanet J Rare Dis. 2020;15:192), doi:10.1186/s13023-020-01478-6.
   PubMed Web of Science ®Google Scholar
• Baldazzi C, Luatti S, Marzocchi G, et al. T(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities. Cancer Genet. 2022;35–39:35–39. doi:10.1016/j.cancergen.2021.12.006.
   Google Scholar
• Di Paola J, Porter CC. ETV6-related thrombocytopenia and leukemia predisposition. Blood. 2019;134:663–667. doi:10.1182/blood.2019852418.
   PubMed Web of Science ®Google Scholar
• Hock H, Shimamura A. ETV6 in hematopoiesis and leukemia predisposition. Semin Hematol 2017;54:98–104. doi:10.1053/j.seminhematol.2017.04.005.
   PubMed Web of Science ®Google Scholar
• Melazzini F, Palombo F, Balduini A, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101:1333–1342. doi:10.3324/haematol.2016.147496.
   PubMed Web of Science ®Google Scholar
• Feurstein S, Godley LA. Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol 2017;106:189–195. doi:10.1007/s12185-017-2259-4.
   PubMed Web of Science ®Google Scholar
• Nakahara K, Ohkuni A, Kitamura T, et al. The sjögren-larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. Mol Cell. 2012;46:461–471. doi:10.1016/j.molcel.2012.04.033.
   PubMed Web of Science ®Google Scholar
• Ohkuni A, Ohno Y, Kihara A. Identification of acyl-CoA synthetases involved in the mammalian sphingosine 1-phosphate metabolic pathway. Biochem Biophys Res Commun 2013;442:195–201. doi:10.1016/j.bbrc.2013.11.036.
   PubMed Web of Science ®Google Scholar
• Teodoro BG, Sampaio IH, Bomfim LHM, et al. Long-chain acyl-CoA synthetase 6 regulates lipid synthesis and mitochondrial oxidative capacity in human and rat skeletal muscle. J. Physiol. (Lond.). 2017;595:677–693. doi:10.1113/JP272962.
   Google Scholar
• Shishikura K, Kuroha S, Matsueda S, et al. Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice. FASEB J. 2019;33:14194–14203. doi:10.1096/fj.201901074R.
   PubMed Web of Science ®Google Scholar
• Jawhar M, Naumann N, Schwaab J, et al. Imatinib in myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB in chronic or blast phase. Ann Hematol 2017;96:1463–1470. doi:10.1007/s00277-017-3067-x.
   PubMed Web of Science ®Google Scholar
• De Braekeleer E, Douet-Guilbert N, Morel F, et al. ETV6 fusion genes in hematological malignancies: a review. Leuk Res 2012;36:945–961. doi:10.1016/j.leukres.2012.04.010.
   PubMed Web of Science ®Google Scholar
• Khoury JD, Solary E, Abla O, et al. The 5th edition of the world health organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–1719. doi:10.1038/s41375-022-01613-1.
   PubMed Web of Science ®Google Scholar
• Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemia: integrating morphological, clinical, and genomic data. Blood. 2022. doi:10.1182/blood.2022015850
   PubMed Web of Science ®Google Scholar