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Updated: Feb 5, 2026

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A t(3;8)(q26.2;q24) involving the EVI1 (MECOM) Gene

Kristie Liu1,2, Carlos A Tirado1,3,4,5

  • 1The International Circle of Genetic Studies, Los Angeles, CA.

Journal of the Association of Genetic Technologists
|September 13, 2018
PubMed
Abstract

Insights

This case study details a patient with polycythemia vera who progressed to acute myeloid leukemia with a novel t(3;8) translocation. This rare genetic finding highlights a poor prognosis in myeloproliferative neoplasms.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Polycythemia vera (PV) is a myeloproliferative neoplasm (MPN) marked by excessive red blood cell production.
  • PV can transform into myelofibrosis and subsequently acute myeloid leukemia (AML).

Purpose of the Study:

  • To report a rare case of a patient with PV who developed myelofibrosis and then AML.
  • To characterize a novel chromosomal translocation, t(3;8)(q26.2;q23), involving MECOM in AML secondary to PV.

Main Methods:

  • Case report of a 68-year-old male with a history of PV.
  • Bone marrow biopsies analyzed for cellularity, fibrosis, blast percentage, and karyotype.
  • Fluorescence in situ hybridization (FISH) used to confirm the translocation.

Main Results:

  • The patient progressed from PV to myelofibrosis and then to AML.
  • A novel t(3;8)(q26.2;q23) translocation involving MECOM was identified in the AML phase.
  • This specific translocation has not been previously reported in AML or related disorders.

Conclusions:

  • The identified t(3;8) translocation represents a unique genetic event in post-PV AML.
  • This translocation may be associated with a poor prognosis.
  • Further research is needed to understand the role of MECOM and other genes in this translocation and its clinical impact.

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