t(10; 12) (q24; p13) as the sole abnormality in a case with refractory acute myeloid leukemia: The first case report and literature review.
Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies, including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements are more often observed in acute lymphoblastic leukemia than in acute myeloid leukemia (AML), where ETV6 gene deletions are more common than rearrangements. Here, we report an AML case with the recurrent t(10; 12) (q24; p13) as the sole abnormality. Fluorescence in situ hybridization with mapping back to metaphases confirmed that the ETV6 gene splits, and rearranges with a locus at 10q24. In review of the literature, this is the first report of AML case with the novel abnormality as the sole change. Complete laboratory findings from bone marrow examination, flow cytometry analysis, cytogenetic studies, molecular analysis, and clinical features are also described in the report.
Lu
Gary
G
Department of Hematopathology, University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA. gglu@mdanderson.org
Gurevich
Inga
I
Vo
Binh T
BT
Chen
Su S
SS
D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein