Exome sequencing identifies SLIT2 variants in primary CNS lymphoma.
Br J Haematol
; 193(2): 375-379, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33481259
ABSTRACT
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.
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MEDLINE
Assunto principal:
Linfoma não Hodgkin
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Neoplasias do Sistema Nervoso Central
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Peptídeos e Proteínas de Sinalização Intercelular
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Sequenciamento do Exoma
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Proteínas do Tecido Nervoso
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article