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细胞遗传学异常对孤立性骨浆细胞瘤疾病进展风险的影响。

Impact of cytogenetic abnormalities on the risk of disease progression in solitary bone plasmacytomas.

机构信息

Division of Hematology, Mayo Clinic, Rochester, MN.

Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

出版信息

Blood. 2023 Nov 30;142(22):1871-1878. doi: 10.1182/blood.2023021187.

Abstract

Most patients with solitary bone plasmacytomas (SBP) progress to multiple myeloma (MM) after definitive radiation therapy as their primary treatment. Whether the presence of high-risk (HR) cytogenetic abnormalities by fluorescence in situ hybridization (FISH) in the clonal plasma cells, obtained either directly from the diagnostic SBP tissue or the corresponding bone marrow examination at the time of diagnosis, is associated with a shorter time to progression (TTP) to MM is unknown. This study evaluated all patients diagnosed with SBP at the Mayo Clinic from January 2012 to July 2022. The presence of del(17p), t(14;16), t(4;14), or +1q (gain or amplification) by FISH in clonal plasma cells was defined as HR. A total of 114 patients were included in this cohort, and baseline FISH was available for 55 patients (48%), of which 22 were classified as HR (40%). The median TTP to MM for patients with SBP and HR FISH was 8 months (95% confidence interval [CI], 6.3-26) compared with 42 months (95% CI, 25-not reached [NR]) in patients with SBP without HR FISH (P < .001). In a multivariate analysis, only HR FISH was a significant predictor for shorter TTP to MM, independent of minimal marrow involvement and an abnormal serum free light chain ratio at diagnosis. Deletion (17p) and gain 1q abnormalities were the most common FISH abnormalities responsible for the short TTP to MM. Thus, assessing for HR FISH abnormalities in clonal plasma cells derived from either the diagnostic SBP tissue or the staging bone marrow examination of patients with newly diagnosed SBP is feasible and prognostic for a shorter TTP to MM.

摘要

大多数单发骨浆细胞瘤(SBP)患者在接受明确的放射治疗作为主要治疗后,会进展为多发性骨髓瘤(MM)。通过荧光原位杂交(FISH)直接从诊断性 SBP 组织或诊断时的相应骨髓检查中获得的克隆浆细胞中是否存在高风险(HR)细胞遗传学异常,与向 MM 进展的时间(TTP)较短有关,目前尚不清楚。这项研究评估了 2012 年 1 月至 2022 年 7 月期间在 Mayo 诊所诊断为 SBP 的所有患者。FISH 检测到克隆浆细胞中存在 del(17p)、t(14;16)、t(4;14)或+1q(增益或扩增)被定义为 HR。该队列共纳入 114 例患者,55 例(48%)患者基线时可进行 FISH 检测,其中 22 例(40%)被归类为 HR。SBP 患者中存在 HR FISH 者的 MM 至 TTP 中位数为 8 个月(95%置信区间[CI],6.3-26),而无 HR FISH 者为 42 个月(95%CI,25-NR)(P<.001)。在多变量分析中,只有 HR FISH 是向 MM 进展时间较短的独立预测因素,与最小骨髓受累和诊断时异常血清游离轻链比无关。缺失(17p)和 1q 增益异常是导致 MM 至 TTP 较短的最常见 FISH 异常。因此,对新诊断的 SBP 患者的诊断性 SBP 组织或分期骨髓检查中获得的克隆浆细胞进行 HR FISH 异常评估是可行的,且对 MM 至 TTP 较短具有预后价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01d7/10731916/61d71bf3752d/BLOOD_BLD-2023-021187-ga1.jpg

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