Whole-genome sequencing reveals cellular origin of concomitant chronic lymphocytic leukemia and multiple myeloma: a case report

Cancer Biol Ther. 2024 Dec 31;25(1):2403203. doi: 10.1080/15384047.2024.2403203. Epub 2024 Sep 18.

Abstract

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.

Keywords: Chronic lymphocytic leukemia; case report; cellular origin; multiple myeloma; whole-genome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • DNA Copy Number Variations
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell* / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell* / pathology
  • Male
  • Multiple Myeloma* / genetics
  • Multiple Myeloma* / pathology
  • Mutation
  • Whole Genome Sequencing* / methods

Grants and funding

This work was financially supported by grants from the National Natural Science Foundation of China [No. 81500123], the Natural Science Foundation of Shandong [ZR2023MH233], and the Key Research and Development Projects of Shandong Province [No. 2017G006005].