Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Eur J Haematol. 2013 Dec;91(6):490-6. doi: 10.1111/ejh.12189. Epub 2013 Oct 10.
POEMS syndrome is a paraneoplastic syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell (PC) proliferative disease, and skin changes. Although chromosomal aberrations have been found and extensively described for other PC disorders, whether POEMS syndrome shares similar cytogenetic profiles has been rarely reported. In this study, we aimed to clarify the cytogenetic abnormalities of patients with POEMS syndrome in our center.
Purified CD138(+) PCs from bone marrow samples of twenty patients with POEMS syndrome were studied by interphase fluorescence in situ hybridization (FISH). FISH results were analyzed for an association between cytogenetic changes and clinical features.
A majority of patients (65%) were found to bear cytogenetic aberrations commonly seen in multiple myeloma. The 14q32 (IGH) translocation was observed in 45% of the cases and included the t(4;14) and t(11;14) translocation (15% and 25% of the cases, respectively). In addition, 25% of the patients had deletions of 13q14 and 20% had an amplification of 1q21. No significant correlation between clinical features with cytogenetic abnormalities was observed, although patients with IGH translocations were more likely to exhibit papilledema (P = 0.018).
Cytogenetic aberrations in POEMS syndrome were similar to other PC dyscrasias, but at different percentages.
POEMS 综合征是一种副肿瘤综合征，其特征为多发性神经病、器官肿大、内分泌病、单克隆浆细胞（PC）增生性疾病和皮肤改变。虽然已经发现并广泛描述了其他 PC 疾病的染色体异常，但 POEMS 综合征是否具有相似的细胞遗传学特征鲜有报道。本研究旨在阐明本中心 POEMS 综合征患者的细胞遗传学异常。
采用间期荧光原位杂交（FISH）技术对 20 例 POEMS 综合征患者骨髓样本中的纯化 CD138+PC 进行研究。分析细胞遗传学变化与临床特征之间的相关性。
大多数患者（65%）存在常见于多发性骨髓瘤的细胞遗传学异常。14q32（IGH）易位在 45%的病例中观察到，包括 t（4；14）和 t（11；14）易位（分别占病例的 15%和 25%）。此外，25%的患者存在 13q14 缺失，20%的患者存在 1q21 扩增。虽然IGH 易位的患者更可能出现视乳头水肿（P = 0.018），但未观察到临床特征与细胞遗传学异常之间存在显著相关性。
POEMS 综合征的细胞遗传学异常与其他 PC 异常相似，但百分比不同。
