alexa Abstract | Long-Term Survival of a Metastatic Colon Cancer Patient with Lynch Syndrome: Molecular Profiling Demonstrated High Mutation Burden and Multiple Actionable Genetic Alterations

Journal of Gastroenterology and Digestive Diseases
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Case Report Open Access


The occurrence of cutaneous and testicular metastatic disease from colorectal cancer is uncommon and typically signifies widespread disease with poor prognosis. We herein report a case of such patient that was successfully treated with a multimodal strategy that combines surgical interventions and multi-agent chemotherapies. Case presentation: In December 2004, the patient initially underwent right hemicolectomy and resection of right lower quadrant abdominal wall metastases for T4, N0, M1 mucinous adenocarcinoma of the cecum. In addition to multiple courses of chemotherapy, he underwent three metastasectoies for repeated recurrences in 2013-2015. He remain disease free at the time of last follow up. Next- Generation sequencing of tumor sample revealed 24 gene alterations and 53 variants of unknown significance [VUS] abnormality. Conclusion: Multidisciplinary management is imperative to achieve the optimal outcome in our patient. Surgical resection of subcutaneous or testicular metastases may be worthwhile in selected patients with mCRC. The genomic alterations in the tumor of this patient with Lynch syndrome (LS) may serve as the potential targets for future immunotherapy and target therapy.

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Author(s): Sabyasachi Roy John Anwar Jue Wang


Metastatic colon cancer, Lynch syndrome,Recurrence, Multimodal treatment, Long-term survival, Metastasectomy, Next-Generation sequencing, Genomic alterations, esophageal, gastric, intestinal, colonic, hepatic, pancreatic

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