BACKGROUND Several studies support the evidence of increased incidence of hematological complications in Gaucher disease including monoclonal and polyclonal gammopathies and blood malignancies, especially multiple myeloma. METHODS Serum concentrations of immunoglobulins and PCR analysis of the IGH gene rearrangements were performed. The clonal PCR products were directly sequenced and analyzed with the appropriate database and tools. Serum monoclonal proteins were detected and identified by electrophoresis. RESULTS Among 27 Gaucher patients, clonal IGH rearrangement was discovered in eight, with 5/8 having also serum monoclonal protein. Elevated immunoglobulins were detected in 9/27 patients. Follow-up data for 17 patients showed that the clonal rearrangement remained the same in four of them, however, in one patient it disappeared after the follow-up period. The remaining 12/17 patients were without previous IGH clonal rearrangement and remained so after the follow-up. CONCLUSIONS Although clonal expansion may occur relatively early in the disease course, at least judging by the IGH gene rearrangements in Gaucher patients, the detected clones may be transient. A careful clinical follow-up in these patients is mandatory, including monitoring for lymphoid neoplasms, especially multiple myeloma.

中文翻译：

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戈谢病患者的免疫球蛋白重链基因重排。

背景多项研究支持戈谢病血液并发症发生率增加的证据，包括单克隆和多克隆丙种球蛋白病以及血液恶性肿瘤，尤其是多发性骨髓瘤。方法进行免疫球蛋白血清浓度和 IGH 基因重排的 PCR 分析。使用适当的数据库和工具直接对克隆 PCR 产物进行测序和分析。电泳检测并鉴定血清单克隆蛋白。结果 27 例戈谢病患者中，8 例发现克隆性 IGH 重排，其中 5/8 还存在血清单克隆蛋白。9/27 的患者检测到免疫球蛋白升高。17 名患者的随访数据显示，其中 4 名患者的克隆重排保持不变，但 1 名患者的克隆重排在随访期后消失。其余 12/17 名患者之前没有 IGH 克隆重排，并且在随访后仍然如此。结论 虽然克隆扩增可能发生在病程相对早期，但至少从戈谢病患者的 IGH 基因重排来看，检测到的克隆可能是短暂的。对这些患者进行仔细的临床随访是必须的，包括监测淋巴肿瘤，尤其是多发性骨髓瘤。