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NK/T cell lymphoma is a rare subset of non-Hodgkin lymphoma that has a unique geographic distribution, with increased prevalence in East Asian countries compared to the West. It is invariably associated with Epstein-Barr virus infection. In late stages of disease, survival rates are typically poor and it remains an area of active research in an effort to improve outcomes.

Some years ago, a young adult patient of 35 years presented with nasal blockage, following which a biopsy confirmed the diagnosis of NK/T cell lymphoma. Curiously, his late younger brother was also diagnosed with NK/T cell lymphoma at a young age of 18 years.

Through whole exome sequencing and inheritance modeling, we identified a recessively-inherited, non-synonymous substitution at FAM160A1 c.2827C > T resulting in an amino acid alteration from arginine to cysteine (p.R943C) in both affected siblings. For the first time, we provided evidence for a novel genetic basis that may explain this rare occurence of NK/T cell lymphoma within the same family.

Link to full publication below:

Chan JY, Ng AYJ, Cheng CL, Nairismägi ML, Venkatesh B, Cheah DMZ, Li ST, Chan SH, Ngeow J, Laurensia Y, Lim JQ, Pang JWL, Nagarajan S, Song T, Chia B, Tan J, Huang D, Goh YT, Poon E, Somasundaram N, Tao M, Quek RHH, Farid M, Khor CC, Bei JX, Tan SY, Lim ST, Ong CK, Tang T. Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma. Blood Cancer J. 2018 Nov 12;8(11):111. doi: 10.1038/s41408-018-0149-5. PMID: 30420729; PMCID: PMC6232147.