Patient with Lynch syndrome with subsequent development of small bowel adenocarcinoma

Abstract

Small bowel adenocarcinoma (SBA) is a rare cancer in the general population, but the incidence increases in patients with Lynch syndrome. The present case describes a 57-year-old white woman with a history of colon cancer status posthemicolectomy and diagnosis of Lynch syndrome. Twenty years after her operation, the patient presented with vague abdominal discomfort and constipation, and underwent an exploratory laparotomy which revealed a stage 3A SBA. Genetic testing of the specimen provided evidence of microsatellite instability and faulty DNA repair supporting aetiology of Lynch syndrome. This case is unique in that SBA, if present in patients with Lynch syndrome, is usually a presenting symptom and has not been widely described in literature as an occurrence so many years after. As a result, this case highlights the importance of a low threshold for a thorough evaluation in patients with Lynch syndrome who present with signs of small bowel obstruction.

Metachronous ileal cancer after surgery for ascending colon cancer in a patient with Lynch syndrome: A case report

“…A high percentage of patients with small bowel cancer were diagnosed at advanced stages due to non-specific abdominal symptoms such as dull or cramping pain, distention, and obstruction [ 16 , 18 ]. Jun et al reported that the frequency of pT4 small bowel cancer was 59% for sporadic cases and 50% for Lynch syndrome [ 16 ].…”

Ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion successfully treated with surgical resection and CAPOX chemotherapy: a case report

“…Careful observation during ovarian tumor surgery allowed us to identify the ileum cancer that would have been difficult to find preoperatively in the patient. As clinical symptoms are frequently vague and non-specific, patients with ileum cancers are often diagnosed at advanced stages [10]. Furthermore, there are currently no effective methods to detect early-stage small bowel cancer in asymptomatic individuals.…”

Multiple Adenocarcinomas of the Small Bowel in a Patient with Brunner’s Glands Agenesia: A Previously Unreported Association

“…Non-ampullary duodenal carcinomas are exceedingly rare [ 2 ]. Their incidence increases in cancer-predisposing syndromes like familiar adenomatous polyposis, and MUTYH-, NTHL1-, and PPAP-associated polyposis [ 3 , 4 ].…”