DOI: 10.5281/zenodo.16942982
title: Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment-Resistant Subclones at the Time of Diagnosis - Supplementary Data

description: Supplementary Table 4. Results of optical genomic mapping for patient P009. The table lists genomic aberrations shared for diagnosis and relapse and those exclusive at both timepoints.

Supplementary Table 5. Sheet A: Results of differential gene expression analysis between relapse and diagnosis MCL cells of four patients (P009, P022, P027 and P087) performed using Wilcoxon rank-sum test. Only genes with adjusted p-value < 0.01, absolute log2 fold change > 1, and expression in at least 25% of cells in the upregulated group are included. Sheet B: Results of GO biological process enrichment analysis performed using clusterProfiler on upregulated and downregulated genes from each patient comparison. Multiple testing correction was performed using the Benjamini-Hochberg method. Only terms with q-value < 0.01 are shown.

Supplementary Table 6. Proportions of cells at four cell cycle phases (G0, G1, S, and G2M) at diagnosis (DG) and their changes after relapse (REL) in four aggressive MCL patients. Statistical analysis was performed using chi-square test.

Supplementary Table 7. Characterization of lymphoma sub-clones detected using CNV inference. Sheet A: Cell counts and proportions (prop) relative to total MCL cells in each subclone at diagnosis (DG) and relapse (REL). prop_FC – proportion fold change at relapse compared to diagnosis (calculated as prop_REL/prop_DG for expanding clones, or prop_DG/prop_REL for contracting clones). Subclone labels indicate putative treatment sensitivity: "Sens" denotes subclones that contracted or disappeared at relapse (suggesting chemotherapy sensitivity), while "Res" denotes subclones that expanded at relapse (suggesting chemotherapy resistance). Sheet B: CNV profiles of MCL subclones identified through inferCNV analysis. Each row specifies chromosomal coordinates (chr, start, end), copy number state (cn), cytogenetic location (cytobands), and genes within altered regions. Copy number states: cn=1 (deletion), cn=2 (normal), cn=3+ (amplification).

Supplementary Table 8. Differential gene expression analysis between resistant and sensitive MCL subclones. Sheet A: Summary of pairwise subclone comparisons. For each comparison between resistant (Res) and sensitive (Sens) subclones, the table reports counts of total, upregulated and downregulated differentially expressed genes and their ratio, enriched Gene Ontology (GO) terms and Hallmark gene sets in each direction. Sheet B: Complete list of differentially expressed genes from all pairwise subclone comparisons. Each row represents a single gene with statistical metrics including p-value, adjusted p-value, average log2 fold change (avg_log2FC), expression percentages in each subclone (pct.1, pct.2), regulatory direction (up/down), and gene description. Sheet C: Gene Ontology (GO) enrichment analysis results for differentially expressed genes. Only significantly enriched (q-value < 0.05) biological processes are shown with enrichment statistics including gene ratio, background ratio, fold enrichment, z-score, adjusted p-values, and lists of genes contributing to each enriched term. Sheet D: Hallmark gene set enrichment analysis (GSEA) results identifying coordinated expression programs differentially active between resistant and sensitive subclones. Results include normalized enrichment scores (NES), statistical significance, leading edge metrics, and core enrichment genes for each pathway.

Supplementary Table 9. Somatic variants in P069 samples. The variants were identified using a consensus approach integrating three variant callers (Mutect2, VarScan2, and Strelka2) and filtered using SomaticSeq with a PASS threshold score of 0.5. The table includes sample identifiers, genomic coordinates (hg38), variant allele frequencies (VAF) and genotypes (GT) for matched normal and tumor samples, sequencing depth (DP), and comprehensive functional annotations generated by Funcotator using GENCODE and HGNC databases. Key annotation fields include gene symbols, variant classifications, transcript information, protein changes, and gene ontology details. Only variants passing consensus filtering criteria with VAF ≥1% for heterozygous and ≥85% for homozygous calls are included.

Supplementary Data Object 1. SingleCellExperiment object with 57751 cells post-QC and 36601 genes. Data columns include sample, patient, timepoint, compartment, cell type annotation (cell_type_manual), cell cycle phase (tricyclePhase), tumor subclones (subclone_label).