Lab Med Online.  2021 Apr;11(2):145-148. 10.47429/lmo.2021.11.2.145.

First Case Report of Acute Myeloid Leukemia with MN1-ETV6 Rearrangement at Relapse

  • 1Departments of Laboratory Medicine, Kyung Hee University College of Medicine, Seoul, Korea
  • 2Departments of Hematology and Medical Oncology, Kyung Hee University College of Medicine, Seoul, Korea
  • 3Department of Laboratory Medicine, Kyung Hee University Hospital at Gangdong, Seoul, Korea


MN1-ETV6 rearrangement is rarely detected in patients with myeloid neoplasms, such as acute myeloid leukemia, myelodysplastic syndrome, and myelodysplastic/myeloproliferative neoplasms. Usually, MN1-ETV6 rearrangement is found at diagnosis. Here, we report the first Korean AML patient with MN1-ETV6 gene rearrangement in a case of relapse exhibiting normal karyotype at early diagnosis.


MN1-ETV6; Acute myeloid leukemia; Relapse


  • Fig. 1 G-banded Karyotype analysis of the patient showed 46,XX,t (12;22) (p13;q12). The arrows indicate translocation of chromosomes 12 and 22.

  • Fig. 2 (A) Multiplex RT-PCR results showing Master 6 and M6 Split-out E 409-bp band which targeted for ETV6 exon3-MN1 exon2 fusion gene. (B) Sequencing analysis RT-PCR product showing fusion between exon 3 of the ETV6 (pink block) and exon 2 of MN1 (blue block).

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