Whole-exome sequencing identifies a CD38 variant in a Chinese family with Hodgkin’s lymphoma

Hodgkin’s lymphoma (HL) exhibits genetic susceptibility, but little is known about the pathogenic genes associated with the disease. Here, we present a case of two siblings from a consanguineous Chinese family who were both diagnosed with nodular sclerosis classical HL. The sister and brother were diagnosed at the ages of 22 and 29, respectively, both presenting with involvement of the neck and mediastinal lymph nodes, and poor response or relapse shortly after first-line treatment. Whole-exome sequencing of the four family members revealed a novel pathogenic missense mutation in the CD38 gene (c.418C > T, p.Arg140Trp), which was found to be inherited in an autosomal recessive manner. Thus, in this study, we identified an additional pathogenic genetic variant for HL, which will contribute to the understanding of the genetic molecular mechanisms underlying the disease.