Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
Leukemia. 2019 Feb;33(2):499-507. doi: 10.1038/s41375-018-0246-2. Epub 2018 Sep 10.
We and others have shown increased risk of monoclonal gammopathy of undetermined significance (MGUS) in first-degree relatives of patients with multiple myeloma (MM). Whether familial risk of MGUS differs by the MM proband's age at onset, tumor or clinical characteristics is unknown. MM and smoldering MM (SMM) cases (N = 430) were recruited from the Mayo Clinic in Rochester, Minnesota between 2005-2015. First-degree relatives over age 40 provided serum samples for evaluation of MGUS (N = 1179). Age and sex specific rates of MGUS among first-degree relatives were compared to a population-based sample. Cytogenetic subtypes were classified by Fluorescence in situ hybridization. MGUS was detected in 75 first-degree relatives for an age- and sex- adjusted prevalence of 5.8% (95% CI: 4.5-7.2). Prevalence of MGUS in first-degree relatives was 2.4 fold (95% CI: 1.9-2.9) greater than expected rates. Familial risk did not differ by proband's age at diagnosis, gender, isotype, IgH translocation, or trisomy. This study confirms first-degree relatives of MM cases have a significantly higher risk of MGUS compared to the general population, regardless of age, gender, or tumor characteristics. In selected situations, such as multiple affected first-degree relatives, screening of first-degree relatives of MM cases could be considered for follow-up and prevention strategies.
我们和其他人已经表明,多发性骨髓瘤(MM)患者的一级亲属中,单克隆丙种球蛋白病的不明意义(MGUS)的风险增加。家族性 MGUS 的风险是否因 MM 先证者的发病年龄、肿瘤或临床特征而异尚不清楚。2005-2015 年期间,从明尼苏达州罗切斯特市的梅奥诊所招募了 MM 和冒烟型 MM(SMM)病例(N=430)。年龄在 40 岁以上的一级亲属提供血清样本以评估 MGUS(N=1179)。一级亲属中 MGUS 的年龄和性别特异性发生率与基于人群的样本进行了比较。细胞遗传学亚型通过荧光原位杂交进行分类。在 1179 名一级亲属中发现了 75 名 MGUS,年龄和性别调整后的患病率为 5.8%(95%CI:4.5-7.2)。一级亲属中 MGUS 的患病率是预期率的 2.4 倍(95%CI:1.9-2.9)。家族风险与先证者的诊断年龄、性别、同型、IgH 易位或三体无关。这项研究证实,与一般人群相比,MM 病例的一级亲属患有 MGUS 的风险明显更高,无论年龄、性别或肿瘤特征如何。在某些情况下,如多个一级亲属受累,可考虑对 MM 病例的一级亲属进行筛查,以制定随访和预防策略。