Young Male with Cecal Mass and Family History of Skin Tumors

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Purpose: Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, is the most common inherited colon cancer syndrome, and accounts for about 3% of all colon cancers. We present an interesting case of a young patient with family history of skin tumors presenting with mechanical obstruction due to a cecal mass. Case: A 33-year-old male with no past medical history developed intermittent abdominal cramping, constipation, and a 40-pound weight loss over the past three months. He presented to the ER with worsening abdominal pain associated with nausea and vomiting. He denied hematochezia, and his last bowel movement was two days prior to admission. The patient had a family history of Muir-Torre syndrome. His maternal grandmother died of colon cancer at a young age, and his mother had multiple sebaceous skin tumors. On exam, his abdomen was distended and diffusely tender, with hypoactive bowel sounds. Computed tomography scan showed a large obstructing cecal mass with dilated distal ileum. The patient was taken to OR for emergent fecal diversion with loop ileostomy. Colonoscopy performed two days post-op revealed an occluding ulcerated cecal mass and a colonic mass at the hepatic flexure. Repeat laparotomy demonstrated a widely metastatic tumor, and the patient underwent cytoreductive surgery with total colectomy and intra-peritoneal chemotherapy. Pathology revealed metastatic high-grade mucinous adenocarcinoma. Conclusion: HNPCC syndrome is an autosomal dominant disorder in which patients are predisposed to colon and a variety of extra-colonic cancers (endometrial, ovarian, urologic, gastrointestinal, skin). Muir-Torre syndrome is a variant of HNPCC in which there is a strong family history of colon cancers in association with sebaceous tumors. Due to early-onset colon cancer, annual screening colonoscopy is recommended starting at age 25. It is important for clinicians to identify families at risk for HNPCC syndrome to initiate timely cancer surveillance. Conclusion: HNPCC syndrome is an autosomal dominant disorder in which patients are predisposed to colon and a variety of extra-colonic cancers (endometrial, ovarian, urologic, gastrointestinal, skin). Muir-Torre syndrome is a variant of HNPCC in which there is a strong family history of colon cancers in association with sebaceous tumors. Due to early-onset colon cancer, annual screening colonoscopy is recommended starting at age 25. It is important for clinicians to identify families at risk for HNPCC syndrome to initiate timely cancer surveillance.