期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 193, 期 2, 页码 375-379出版社
WILEY
DOI: 10.1111/bjh.17319
关键词
CNS lymphoma; genetics; exome sequencing; SLIT2; prognosis; Epstein-Barr virus
类别
Novel SLIT2 variants were identified in PCNSL patients and associated with shorter survival times, suggesting a potential role for SLIT2 in the pathogenesis and progression of PCNSL that warrants further investigation.
SLIT2 constitutes a known tumour suppressor gene, which has not yet been implicated in the pathogenesis of primary central nervous system lymphoma (PCNSL). Performing exome sequencing on paired blood and tumour DNA samples from six treatment-naive PCNSL patients, we identified novel SLIT2 variants (p.N63S, p.T590M, p.T732S) that were associated with shorter progression-free survival in our cohort and shorter overall survival in a large validation cohort of lymphoid malignancies from the cBio Cancer Genomics Portal. WNT- and NF-kappa B-reporter luciferase assays suggest detected alterations are loss-of-function variants. Given the possible prognostic implications, the role of SLIT2 in PCNSL pathogenesis and progression warrants further investigation.
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