SHM Converge Scientific Abstract ePoster Gallery-Colorectal Adenocarcinoma in Lynch Syndrome-Focusing on Conventional and Emerging Treatment

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A 27-year-old man with a strong paternal family history of colorectal cancer presented with constipation and significant weight loss. Imaging and biopsy revealed a large rectal adenocarcinoma with loss of MLH1 and PMS2 expression, consistent with mismatch repair deficiency and Lynch syndrome. Pelvic MRI staged the cancer as locally advanced rectal cancer (T4N1, stage III).  <br /><br />He underwent multidisciplinary treatment consisting of neoadjuvant FOLFOX chemotherapy, followed by chemoradiation with capecitabine, robotic-assisted low anterior resection, and adjuvant XELOX chemotherapy. After treatment, MRI showed marked tumor resolution, pathology showed no residual disease, and follow-up scans and CEA levels showed no recurrence. He was also advised to continue long-term Lynch syndrome surveillance, including regular colonoscopy, upper endoscopy, urinalysis, and skin checks.  <br /><br />The report emphasizes several key lessons: young patients with colorectal cancer should be evaluated carefully for family history and offered genetic testing for Lynch syndrome; treatment strategies for rectal cancer in Lynch syndrome are evolving; and emerging options such as neoadjuvant immunotherapy with dostarlimab may be effective in mismatch repair-deficient rectal cancer. It also highlights the importance of screening for other Lynch-associated cancers according to guideline-based recommendations.

Asset Subtitle

Eunbee Cho

Meta Tag

Author List Daniel Farray, Eunbee Cho, Roy Kondapavuluru, Seokwon Choi, Shreel Patel

Category Clinical Vignettes

Concept Lynch Syndrome

Concept Mismatch Repair Gene

Concept Colorectal Cancer

Concept Family History

Concept Genetic Testing

Distinguished Non-Finalist

Presenter Organization UTRGV Knapp Medical Center

Presenting Author Eunbee Cho

Track Adult

Keywords

Lynch syndrome

rectal adenocarcinoma

mismatch repair deficiency

MLH1

PMS2

colorectal cancer

neoadjuvant chemotherapy

chemoradiation

low anterior resection

dostarlimab

Lynch Syndrome

Mismatch Repair Gene

Colorectal Cancer

Family History

Genetic Testing