Abstract 932: Snapshot! Exploring sample diversity of sarcoma cancers across common data repositories

Abstract Sarcoma is a cancer which originates in the body's connective tissues of mesenchymal origin. These are tissues like bones and muscles that support or protect other parts of the body. About ~16,000 sarcomas are diagnosed annually in the US, with ~6,700 deaths attributed to the disease. Sarcomas are typically divided into two major groups: bone sarcomas and soft-tissue sarcomas, each of which has multiple subtypes. However, because of their diversity in site-of-origin, sarcomas vary greatly in their presentation and histological features. Based on The World Health Organization’s (WHO) current classification system that categorizes musculoskeletal soft tissue tumours (STT) and bone tissue tumours, there are 50+ subtypes of sarcoma recognized today. Unsurprisingly, given the relative rarity of sarcoma type tumors, sample procurement has proved a challenge for the field. Consequently, there currently exist major gaps in our understanding of the genetic and molecular hallmarks of various sarcoma subtypes. Here we examine the sample and subtype classifications of sarcoma across some of the major DNA sequencing studies and data repositories to provide an overview of the available sample space. We highlight areas where the sample procurement is lagging and discuss subtypes that are missing all-together. Inclusion of some of the major genomic correlates showcases some of the similarities shared by these sequencing efforts, while emphasizing key genetic differences between subtypes. This work provides a clear roadmap for clinicians on how to best prioritize future sarcoma sample procurement and sequencing. Citation Format: Alfredo Enrique Gonzalez, Yash Patel, Chenghao Zhu, Takafumi N. Yamaguchi, Mao Tian, Sarah Hiyari, Ahmad A. Shihabi, Stefan Eng, Helena Winata, Jaron Arbert, Arpi Beshlikyan, Ardalan Davarifar, Alice Soragni, Paul C. Boutros. Snapshot! Exploring sample diversity of sarcoma cancers across common data repositories [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 932.