Ramasamy I, Rudzki Z
Department of Biochemistry, Worcester Royal Hospital, Worcester, UK.
Heart of England NHS Trust, Birmingham, UK.
Case Rep Hematol. 2018 Aug 12;2018:4832619. doi: 10.1155/2018/4832619. eCollection 2018.
Gamma heavy chain disease (-HCD) is a rare lymphoproliferative disorder characterised by the production of a truncated immunoglobulin heavy chain. Fewer than 200 cases have been reported in the literature. In some cases, -HCD occurs with other lymphoid neoplasms. This study reports clinical, biochemical, haematological, and histological findings in two cases of -HCD. We describe newer biochemical diagnostic tools (HevyLite measurement, capillary electrophoresis, and immunotyping) that can aid in the characterisation of -HCD. The first case is an 88-year-old woman with -HCD. The second case is an 81-year-old woman who developed -HCD during treatment for Waldenstrom's macroglobulinemia. In the second patient, histopathology identified a separate clone responsible for the secretion of the gamma heavy chain. Studies on the clonal evolution of the disease may provide insight into therapeutic implications and the genomic complexity of the disease.
γ重链病（-HCD）是一种罕见的淋巴增殖性疾病，其特征是产生截短的免疫球蛋白重链。文献报道的病例不足200例。在某些情况下，-HCD与其他淋巴样肿瘤同时发生。本研究报告了2例-HCD的临床、生化、血液学和组织学 findings。我们描述了可有助于-HCD特征化的更新的生化诊断工具（HevyLite测量、毛细管电泳和免疫分型）。第一例是一名患有-HCD的88岁女性。第二例是一名81岁女性，她在治疗华氏巨球蛋白血症期间发生了-HCD。在第二例患者中，组织病理学鉴定出一个负责分泌γ重链的单独克隆。对该疾病克隆进化的研究可能有助于深入了解其治疗意义和疾病的基因组复杂性。
