涉及免疫球蛋白重链基因座的易位可能是原发性系统性淀粉样变性患者早期的遗传事件。

Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis.

作者信息

Hayman S R, Bailey R J, Jalal S M, Ahmann G J, Dispenzieri A, Gertz M A, Greipp P R, Kyle R A, Lacy M Q, Rajkumar S V, Witzig T E, Lust J A, Fonseca R

机构信息

Departments of Hematology and Internal Medicine and of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

出版信息

Blood. 2001 Oct 1;98(7):2266-8. doi: 10.1182/blood.v98.7.2266.

DOI:10.1182/blood.v98.7.2266

PMID:11568015

Abstract

Primary systemic amyloidosis (AL) is a plasma cell (PC) dyscrasia with clinical similarities to multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS), but its molecular basis is poorly understood. Translocations at the immunoglobulin heavy-chain (IgH) locus, 14q32, are likely early genetic events in both MM and MGUS and involve several nonrandom, recurrent, partner chromosomes such as 11q13, 16q23, and 4p16.3. Given the similarities between MM, MGUS, and AL, bone marrow clonal PCs were evaluated in 29 patients with AL using interphase fluorescence in situ hybridization (FISH) combined with immunofluorescence detection of the cytoplasmic light-chain (cIg-FISH) for the presence of 14q32 translocations and the t(11;14)(q13;q32). Of 29 patients studied, 21 (72.4%) showed results compatible with the presence of a 14q32 translocation, and 16 (76.2%) of those had translocation (11;14)(q13;q32) for an overall prevalence of the abnormality of 55%. IgH translocations are common in AL, especially the t(11;14)(q13;q32).

摘要

原发性系统性淀粉样变性（AL）是一种浆细胞（PC）发育异常，在临床上与多发性骨髓瘤（MM）和意义未明的单克隆丙种球蛋白病（MGUS）相似，但其分子基础尚不清楚。免疫球蛋白重链（IgH）基因座14q32处的易位可能是MM和MGUS的早期遗传事件，涉及几个非随机、复发性的伙伴染色体，如11q13、16q23和4p16.3。鉴于MM、MGUS和AL之间的相似性，对29例AL患者的骨髓克隆性PC进行了评估，采用间期荧光原位杂交（FISH）结合细胞质轻链免疫荧光检测（cIg-FISH），以检测14q32易位和t(11;14)(q13;q32)的存在。在研究的29例患者中，21例（72.4%）的结果与存在14q32易位相符，其中16例（76.2%）有(11;14)(q13;q32)易位，该异常的总体患病率为55%。IgH易位在AL中很常见，尤其是t(11;14)(q13;q32)。