Exome sequencing identifies SLIT2 variants in primary CNS lymphoma.
Leon D KaulenE Zeynep Erson-OmayOctavian HenegariuPhilipp KarschniaAnita HuttnerMurat GünelJoachim M BaehringPublished in: British journal of haematology (2021)
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.
Keyphrases
- copy number
- free survival
- genome wide
- single cell
- diffuse large b cell lymphoma
- end stage renal disease
- ejection fraction
- dna methylation
- newly diagnosed
- stem cells
- prognostic factors
- papillary thyroid
- signaling pathway
- squamous cell carcinoma
- oxidative stress
- high throughput
- blood brain barrier
- lps induced
- inflammatory response
- pi k akt
- gene expression
- immune response
- young adults
- patient reported outcomes
- genome wide identification