Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1052-1059. doi: 10.1002/ajmg.c.31870. Epub 2020 Dec 5.
Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p = .02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p = .009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p = .05), p.N409S allele (p = .032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.
戈谢病 1 型（GD1）中多发性骨髓瘤是最常见的血液恶性肿瘤。目前缺乏关于γ球蛋白血症筛查的结果数据和共识。本研究探讨了在巴西阿雷格里港和俄亥俄州辛辛那提进行筛查的效用。对 GD1 患者的临床信息和实验室数据进行了回顾性分析。在 19 年多的时间里，68 名 GD1 患者（31 名男性，37 名女性）接受了筛查，其中 20 名（29.4%）存在异常。12 名（17.6%）患有多克隆γ球蛋白病（平均年龄 24.2 岁，p=0.02），7 名（10%）患有意义未明的单克隆γ球蛋白病（MGUS；平均年龄 52.7 岁，p=0.009）。1 名患有多发性骨髓瘤（61 岁）。MGUS 的危险因素包括男性（p=0.05）、p.N409S 等位基因（p=0.032）。MGUS 在 62 名接受治疗的个体中的 6 名和 4 名未接受治疗的个体中的 2 名中发展。在接受 MGUS 治疗的患者中，4 名接受酶替代治疗（ERT），1 名接受底物减少治疗（SRT）。13 名接受治疗的个体（10 名多克隆，3 名 MGUS）的γ球蛋白病恢复正常，2 名接受治疗的个体（2 名多克隆，2 名 MGUS）的γ球蛋白病仍异常。MGUS 复发见于 1 名 MGUS 患者和 3 名多克隆γ球蛋白病患者。本研究描述了 GD1 患者的γ球蛋白血症筛查情况，并确定了其危险因素。
