Translocation (11;14) is a common cytogenetic abnormality in clonal plasma cells in monoclonal immunoglobulin deposition disease.

IF 5.1 2区 医学 Q1 HEMATOLOGY British Journal of Haematology Pub Date : 2024-09-06 DOI:10.1111/bjh.19748
Divaya Bhutani, Yusha Liu, Rajshekhar Chakraborty, Jai Radhakrishnan, Suzanne Lentzsch, Daniel Peters, Samuel Rubinstein
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Abstract

Monoclonal Immunoglobulin deposition disease (MIDD) is characterised by deposits of intact monoclonal light chains in the kidney leading to renal dysfunction. In this study, we retrospectively investigated the underlying plasma cell cytogenetic abnormalities in MIDD. CyclinD1 (11;14) translocation was identified in 12/27 (45%) patients. Among the patients without translocation, del13q and hyperdiploidy were the most common abnormalities. Patients in the non-t (11;14) group had a higher baseline light-chain ratio, higher proteinuria and lower eGFR as compared to patients with t (11;14). Haematological VGPR or higher was seen in 58% of t (11;14), and 30% without t (11;14), possibly related to higher use of Daratumumab-based therapy in the t (11;14) group. With a median follow-up of 750 days, 30% (8/24) progressed to end stage renal disease (ESRD). eGFR <20 mL/min (HR 25, 95% CI 2.09-298, p = 0.01) and 24 urine protein >3 g/24 h (HR 9, 95% CI 1.27-63.90, p = 0.02) at diagnosis were significantly associated with progression to ESRD. Renal survival was better in t (11;14) as compared to the non-t (11;14) group (HR 0.11, p = 0.06). Translocation (11;14) is a common abnormality in MIDD and affects the presentation and outcomes. Identification of this abnormality should lead to exploration of BCL2 inhibitors in this disease.

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易位(11;14)是单克隆免疫球蛋白沉积症中克隆浆细胞常见的细胞遗传学异常。
单克隆免疫球蛋白沉积病(MIDD)的特征是完整的单克隆轻链在肾脏沉积,导致肾功能障碍。在这项研究中,我们对 MIDD 潜在的浆细胞细胞遗传学异常进行了回顾性研究。在 12/27 例(45%)患者中发现了 CyclinD1 (11;14) 易位。在没有发生易位的患者中,del13q和高二倍体是最常见的异常。与 t(11;14)患者相比,非 t(11;14)组患者的基线轻链比值更高、蛋白尿更高、eGFR 更低。58%的t (11;14)患者和30%的非t (11;14)患者出现血液学VGPR或更高,这可能与t (11;14)组患者更多地使用达拉单抗治疗有关。中位随访750天,30%的患者(8/24)进展为终末期肾病(ESRD)。诊断时eGFR 3 g/24 h(HR 9,95% CI 1.27-63.90,p = 0.02)与进展为ESRD显著相关。与非 t(11;14)组相比,t(11;14)组的肾脏存活率更高(HR 0.11,P = 0.06)。转位(11;14)是 MIDD 中常见的异常,会影响表现和预后。这种异常的发现将有助于探索BCL2抑制剂在该疾病中的应用。
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来源期刊
CiteScore
8.60
自引率
4.60%
发文量
565
审稿时长
1 months
期刊介绍: The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.
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