A Case of T-Lymphoblastic Leukemia with Submicroscopic 1p33 Deletion Resulting in STIL-TAL1 Fusion

초록

T-lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy associated with poor outcomes. The genetic background of T-ALL is widely heterogeneous and the TAL1 gene is overexpressed in approximately half of all cases. A submicroscopic interstitial deletion on chromosome 1p33 results in STIL-TAL1 fusion, causing inappropriate overexpression of TAL1, which promotes T cell leukemogenesis. T-ALL with STIL-TAL1 exhibits distinct characteristics, such as a mature cortical T cell immunophenotype, low incidence of NOTCH1 mutation, privileged association with PTEN inactivation, deletion of 6q14–q16, MYC translocation, high leukocyte count, poor response to treatment, and low event-free survival. However, the clinical relevance and prognostic value of this rearrangement remain unclear. Here, we report the first case of T-ALL with a 1p33 deletion resulting in STIL-TAL1 fusion in Korea, which was detected by reverse transcriptase-polymerase chain reaction and confirmed by chromosomal microarray analysis.

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