A Case of T-Lymphoblastic Leukemia with Submicroscopic 1p33 Deletion Resulting in STIL-TAL1 Fusion
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
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.
Abstract
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.
참고문헌 (11)
- Bardelli V, "T-cell acute lymphoblastic leukemia : biomarkers and their clinical usefulness", Genes, 12, pp.1118~ (2021)
- Van Vlierberghe P, "The molecular basis of T cell acute lymphoblastic leukemia", J Clin Invest, 122, pp.3398~3406 (2012)
- D’Angiò M, "Clinical features and outcome of SIL", TAL1-positive T-cell acute lymphoblastic leukemia in children and adolescents : a 10-year experience of the AIEOP group, 2015, pp.100, e10~e13
- Tan TK, "Oncogenic transcriptional program driven by TAL1 in T-cell acute lymphoblastic leukemia", Int J Hematol, 109, pp.5~17 (2019)
- Furness CL, "The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia", Leukemia, 32, pp.1984~1993 (2018)
- Panagopoulos I, "Interstitial deletions generating fusion genes", Cancer Genomics Proteomics, 18, pp.167~196 (2021)
- Chopra A, "Prevalence of common fusion transcripts in acute lymphoblastic leukemia : A report of 304 cases", Asia Pac J Clin Oncol, 11, pp.293~298 (2015)
- Yu L, "Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia", Leukemia, 25, pp.1042~1046 (2011)
- Girardi T, "The genetics and molecular biology of T-ALL", Blood, 129, pp.1113~1123 (2017)
- Wang D, "SIL-TAL1 rearrangement is related with poor outcome : a study from a Chinese institution", PLoS One, 8, pp.e73865~ (2013)
- Zhao X, "The clinical significance of monitoring the expression of the SIL-TAL1 fusion gene in T-cell acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation", Int J Lab Hematol, 39, pp.613~619 (2017)