Department of Radiation Oncology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
Department of Hematology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
Cancer Biol Ther. 2024 Dec 31;25(1):2403203. doi: 10.1080/15384047.2024.2403203. Epub 2024 Sep 18.
Chronic lymphocytic leukemia (CLL) and multiple myeloma (MM) are hematological disorders affecting B cells. The clonal relationship between CLL and MM has not always been clarified, although this information is critical to understanding its pathogenesis. Here, we present a rare clinical case of synchronous CLL and MM. Whole-genome sequencing (WGS) was performed using malignant lymph node (LN) and bone marrow (BM) tissues. Based on the high consistency of single nucleotide variants (SNVs), significantly mutated genes (SMGs), copy number variations (CNVs), different B cell receptor (BCR) IGH rearrangement features in LN and BM, and the different light-chain expression patterns in CLL and MM cells, we concluded that CLL and MM cells from this patient originated from the same hematopoietic stem cell/progenitors, different pro-B cells and suffered oncogenic mutations at different B cell differentiation stages. Depth analysis of genome features using WGS provides a new method to explore the process of malignant B cell genesis.
慢性淋巴细胞白血病（CLL）和多发性骨髓瘤（MM）是影响 B 细胞的血液系统疾病。虽然了解其发病机制至关重要，但 CLL 和 MM 之间的克隆关系并不总是明确的。本文报道了一例罕见的 CLL 和 MM 同步发生的临床病例。使用恶性淋巴结（LN）和骨髓（BM）组织进行全基因组测序（WGS）。基于单核苷酸变异（SNV）、显著突变基因（SMG）、拷贝数变异（CNV）的高度一致性，LN 和 BM 中不同的 B 细胞受体（BCR）IGH 重排特征，以及 CLL 和 MM 细胞中不同的轻链表达模式，我们得出结论，该患者的 CLL 和 MM 细胞来源于同一造血干细胞/祖细胞，不同的前 B 细胞，并在不同的 B 细胞分化阶段遭受致癌突变。使用 WGS 对基因组特征进行深度分析为探索恶性 B 细胞发生的过程提供了一种新方法。
