Supplementary Figure S4 from Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level
Year: 2025
Type: supplementary-materials
Abstract: Supplementary Figure S4. Single-nucleus genotyping and clonal architecture analysis of endometrioid endometrial carcinomas of different molecular subtypes. A, Representative micrograph of hematoxylin-and-eosin (H&E)-stained endometrioid endometrial cancer EEC132 of CN-low/NSMP molecular subtype and single-nucleus sequencing data information, including allele dropout (ADO) rate and number of tumor cells found (left). Single-nucleus genotyping analysis of each variant detected in our single-nucleus data (middle left). Cells are shown in columns and variants in rows. Clonal evolution phylogenetic three depicting the emergence of PI3K-derived clones in tumor evolution (middle right). Alignment of sequencing reads showing the two PTEN hotspot variants detected in bulk and matched single-nucleus sequencing data (right). B, Representative H&E micrograph of MMRd/MSI-high EEC87 and single-nucleus sequencing data information, including ADO rate and number of tumor cells found (left). Single-nucleus genotyping analysis of each variant detected in our single-nucleus data, (middle). Cells are shown in columns and variants in rows. Fish plot showing the emergence of the subclones in tumor evolution (right). The dotted lines depict the type of variants that constitutes each of the subclones. Clonal evolution phylogenetic three depicting the emergence of PI3K-derived clones in tumor evolution (bottom right). C, Representative H&E micrograph of POLE-mutant EEC136 and single-nucleus sequencing data information, including ADO rate and number of cells found (left). Single-nucleus sequencing analysis of each variant detected in our single-nucleus data (middle). Cells are shown in columns and variants in rows. Fish plot showing the emergence of the subclones in tumor evolution (right). The dotted lines depict the type of variants that constitutes each of the subclones. Clonal evolution phylogenetic three depicting the emergence of PI3K-derived clones in tumor evolution (bottom right). The mutation status is color-coded according to the legend. ADO, allele dropout; CN, copy number; EEC, endometrioid endometrial carcinoma; Hist., histologic; MMRd, mismatch repair-deficient; Mol., molecular; MSI, microsatellite instability; NSMP, no specific molecular profile.
Language: English
Subfield: Obstetrics and Gynecology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4416232181