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.
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