FIGURE 4 from Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 Participants
Year: 2023
Type: other
Abstract: Molecular analysis for 3 highlighted patients. A, Path (red), LP (gold), and VUS (Blue) variants identified by TSO500 in colon adenocarcinoma from 15-year-old male. Pathogenic germline mutations were identified in MLH1 (c.156del p.Glu53Argfs*4) and APC (c.3329C>A, p.Ser1110*) and VUS in SMAD4 (c.947A>G, p.Asn316Ser; hatched bars). B, Variants identified by TSO500 in a malignant melanotic schwannoma from a 36-year-old female, with Path mutations in NF1 (c.276dupA, p.C93fs*14) and PRKAR1A (c.207_208delGA, p.K70fs*11) and LP variant in SETD2 (c.4405dupA, p.M1469fs*6).C, Variants identified in two lymph node metastases collected 1 year apart from a carcinoma of unknown primary in a 75-year-old male (purple collected first, green collected second). VUS with higher percentage VAF (>45%) were identified in both samples (NCOR1, MST1R, ABL2, ROS1, ESR1, FAT1, POLE, NTRK3, and GEN1), as well as low VAF (∼6%) VUS in ZNF703. Pathogenicity of variants is indicated in y-axis label.
Authors: Shadin Ahmed, Mary Frances Wedekind, Jaydira Del Rivero, Margarita Raygada, Robin Lockridge, John W. Glod, Crystal Flowers, BJ Thomas, Donna B. Bernstein, Oxana B. Kapustina, Ashish Jain, Markku Miettinen, Mark Raffeld, Liqiang Xi, Manoj Tyagi, Jung Kim, Kenneth Aldape, Ashkan A. Malayeri, Rosandra N. Kaplan, Taryn Allen, Christina A. Vivelo, Abby B. Sandler, Brigitte C. Widemann, Karlyne M. Reilly
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4389380281