Myeloproliferative neoplasm with ABL1/ETV6 rearrangement mimics chronic myeloid leukemia and responds to tyrosine kinase inhibitors

Wei Xie, Sa A. Wang, Shimin Hu, Jie Xu, L. Jeffrey Medeiros, Guilin Tang

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Myeloproliferative neoplasms (MPN) associated with ABL1-ETV6 fusions are rare and poorly characterized. To date, less than 20 cases of ABL1-ETV6+ MPN have been reported. We report a 47-year-old man who presented with MPN with clinicopathologic features resembling chronic myeloid leukemia, but there was no evidence of t(9;22)(p34.1;q11.2) or BCR-ABL1 fusion. Conventional cytogenetics and fluorescence in situ hybridization analysis showed ins(12;9)(p13;q34q34) that led to ETV6-ABL1 fusion. The patient responded well to tyrosine kinase inhibitor therapy and achieved remission for 7 years.

Original languageEnglish (US)
Pages (from-to)41-46
Number of pages6
JournalCancer Genetics
Volume228-229
DOIs
StatePublished - Dec 2018
Externally publishedYes

Keywords

  • ABL1-ETV6 rearrangement
  • Myeloproliferative neoplasm
  • Tyrosine kinase inhibitors

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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