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<p>Hodgkin’s lymphoma (HL) exhibits genetic susceptibility, but little is known about the pathogenic genes associated with the disease. Herein, we present a case of two siblings from a consanguineous Chinese family who were both diagnosed with nodular sclerosis classical HL. The female child and male child 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 the first-line treatment. Whole-exome sequencing of the four family members revealed a novel pathogenic missense mutation in the <i>CD38</i> gene (c.418&#xa0;C &gt; T, p.Arg140Trp), which was found to be inherited in an autosomal recessive manner. Herein, we identified a putative pathogenic genetic variant that may be associated with HL, which will contribute to improve the understanding of the genetic molecular mechanisms underlying the disease.</p>

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

  • 期刊论文

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  • 发表日期：

    2026年1月15日

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  • Xi Chen,
  • Li Xie,
  • Wanchun Wu,
  • Ming Jiang,
  • Yi Cui,
  • Liqun Zou

摘要

Hodgkin’s lymphoma (HL) exhibits genetic susceptibility, but little is known about the pathogenic genes associated with the disease. Herein, we present a case of two siblings from a consanguineous Chinese family who were both diagnosed with nodular sclerosis classical HL. The female child and male child 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 the first-line treatment. Whole-exome sequencing of the four family members revealed a novel pathogenic missense mutation in the CD38 gene (c.418 C > T, p.Arg140Trp), which was found to be inherited in an autosomal recessive manner. Herein, we identified a putative pathogenic genetic variant that may be associated with HL, which will contribute to improve the understanding of the genetic molecular mechanisms underlying the disease.