Defects in KLHDC8B are a cause of Hodgkin lymphoma (HL) [MIM:236000]. A malignant disease characterized by progressive enlargement of the lymph nodes, spleen and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells). Reed-Sternberg cells compose only 1-2% of the total tumor cell mass. The remainder is composed of a variety of reactive, mixed inflammatory cells consisting of lymphocytes, plasma cells, neutrophils, eosinophils and histiocytes. Note=A chromosomal aberration disrupting KLHDC8B has been found in a family with the nodular sclerosis type of classic Hodgkin lymphoma. Translocation t(2,3)(q11.2;p21.31).
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