Undifferentiated Pleomorphic Sarcoma as an Uncommon Extracolonic Presentation in Lynch Syndrome with MLH1 Germline Mutation: A Case Study - Takeaways - MDSpire

Undifferentiated Pleomorphic Sarcoma as an Uncommon Extracolonic Presentation in Lynch Syndrome with MLH1 Germline Mutation: A Case Study

  • By

  • Yuxing Chen

  • Yilin Xiao

  • Ruihan Li

  • Mengjiao Wu

  • Yan Zong

  • Min Jin

  • Xiaona Chang

  • Hongli Liu

  • April 21, 2026

  • 0 min

Share

  • 1

    Undifferentiated pleomorphic sarcoma (UPS) is a rare and aggressive soft tissue sarcoma, often occurring in the extremities.

  • 2

    Lynch syndrome (LS) is linked to mutations in mismatch repair genes, significantly increasing cancer risk, primarily colorectal cancer.

  • 3

    This case presents a 60-year-old male with LS and a germline MLH1 mutation who developed synchronous colorectal cancer and retroperitoneal UPS.

  • 4

    Molecular testing revealed mismatch repair deficiency in two cancers, suggesting UPS may be an extracolonic manifestation of LS.

  • 5

    The findings emphasize the need for comprehensive molecular testing in atypical LS-associated tumors to guide diagnosis and treatment.

Original Source(s)

Undifferentiated Pleomorphic Sarcoma as an Uncommon Extracolonic Presentation in Lynch Syndrome with MLH1 Germline Mutation: A Case Study

  • by Yuxing Chen, Yilin Xiao, Ruihan Li, Mengjiao Wu, Yan Zong, Min Jin, Xiaona Chang, Hongli Liu

  • April 21, 2026

Related Content

UCI Health raises colon cancer awareness on “Dress in Blue Day”

UCI Health joined the national “Dress in Blue Day” campaign on March 10 to raise awareness.

  • by

  • May 14, 2026

  • 1 min
Nitidine chloride suppresses polo-like kinase 1 via MYCN-associated transcriptional regulation in colorectal cancer: a multi-omics and spatial transcriptomics study

Large Language Models in Colorectal Cancer Care and Clinical Decision Support: Systematic Review