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Exome sequencing identifies SLIT2 variants in primary CNS lymphoma
Author(s) -
Kaulen Leon D.,
ErsonOmay E. Zeynep,
Henegariu Octavian,
Karschnia Philipp,
Huttner Anita,
Günel Murat,
Baehring Joachim M.
Publication year - 2021
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.17319
Subject(s) - exome sequencing , pathogenesis , primary central nervous system lymphoma , exome , biology , lymphoma , medicine , cancer , wnt signaling pathway , cancer research , gene , mutation , immunology , genetics
Summary 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‐naïve 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‐κB‐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.