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Letter to the Editor

Cryptic ETV6–PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm

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Pages 1304-1307 | Received 13 Apr 2018, Accepted 19 May 2018, Published online: 11 Jul 2018

References

  • Orazi A, Germing U. The myelodysplastic/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features. Leukemia 2008;22:1308–1319.
  • McClintock B. The behavior in successive nuclear divisions of a chromosome broken at meiosis. Proc Natl Acad Sci USA. 1939;25:405–416.
  • Stephens PJ, Greenman CD, Fu B, et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011;144:27–40.
  • Forment JV, Kaidi A, Jackson SP. Chromothripsis and cancer: Causes and consequences of chromosome shattering. Nat Rev Cancer. 2012;12:663–670.
  • Abáigar M, Robledo C, Benito R, et al. Chromothripsis is a recurrent genomic abnormality in high-risk Myelodysplastic Syndromes. PLoS One. 2016;11:e0164370
  • Fontana MC, Marconi G, Feenstra JDM, et al. Chromothripsis in acute myeloid leukemia: biological features and impact on survival. Leukemia 2018. DOI:10.1038/s41375-018-0035-y
  • Golub TR, Barker GF, Lovett M, et al. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 1994;77:307.307e16.
  • Hsu TS, Mo ST, Hsu PN, et al. c-FLIP is a target of the E3 ligase deltex1 in gastric cancer. Cell Death Dis. 2018;9:135.
  • Zheng L, Conner SD. PI5P4Kγ functions in DTX1-mediated Notch signaling. Proc Natl Acad Sci USA. USA 2018;115:E1983–E1990.
  • Tarumoto Y, Lu B, Somerville TDD, et al. LKB1, salt-inducible kinases, and MEF2C are linked dependencies in acute myeloid leukemia. Mol Cell. 2018;69:1017–1027.
  • Liu D, Yang C, Bojdani E, et al. Identification of RASAL1 as a major tumor suppressor gene in thyroid cancer. J Natl Cancer Inst. 2013;105:1617–1627.
  • Drucker TM, Johnson SH, Murphy SJ, et al. BIMA V3: an aligner customized for mate pair library sequencing. Bioinformatics. 2014;30:1627–1629.
  • Johnson SH, Smadbeck JB, Smoley SA, et al. SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq). Cancer Genet. 2018;221:1–18.
  • Curtis CE, Grand FH, Waghorn K, et al. A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease. Leukemia 2007;21:1839–1841.
  • Bochtler T, Granzow M, Stölzel F, et al. Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia. Blood 2017;129:1333–1342.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016;127:2391–2405.
  • Cheah CY, Burbury K, Apperley JF, et al. Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood 2014;123:3574–3577.

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