Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominantly-inherited disease characterized by medullary thyroid cancer (MTC), pheochromocytoma, and hyperparathyroidism. With the RET oncogene being causative, mutations are detected through genetic testing in 98% of families with MEN2A, more than 98% of those with MEN2B, and approximately 95% of those with FMTC. RET gene analysis after genetic counseling is strongly recommended for patients diagnosed with hereditary MTC, as the surgical procedure is different from that for sporadic MTC, and pheochromocytoma screening is also required. When receiving genetic testing, they may be emotionally unstable until they are notified of their test results. To clarify the necessity of nursing intervention, we interviewed 3 patients who had been diagnosed with MTC and received genetic testing. Patient 1 had a history of recurrent lymphoma, in addition to previous major surgery, including recurrent laryngeal nerve resection, and faced marked anxiety over the possible mental and physical influences of inheritance. Patient 2 had not seriously considered heredity, but changes in his family’s attitude made him realize his situation, and he impulsively notified his relatives of it. In the case of Patient 3, although the disease had not yet been definitely confirmed to be hereditary, he faced a dilemma, developing a sense of guilty due to the possibility of his having transmitted the disease to his son, which made it difficult for him to notify his son of the situation. RET germline mutations were not identified in any case. However, the interview data revealed marked differences in the emotional changes experienced by the 3 patients, suggesting the necessity of nursing intervention for such patients with or without germline mutations.

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We report an extremely rare case of familial adenomatous polyposis whose mesenteric desmoid tumor that fistulated to the small bowel and ruptured. Optimal surgical treatment was selected for this patient according to imaging evaluation preoperatively. A 41-year-old man underwent restorative proctocolectomy and pancreatoduodenectomy for treatment of familial adenomatous polyposis with a sigmoid colon and duodenal cancer 5 years previously. At 3 years after surgery, he developed mesenteric desmoids and underwent chemotherapy as conservative treatment. Under the treatment, he developed abdominal pain and was admitted to our hospital. An increased white blood cell count, increased C-reactive protein level, and peritonitis were found upon presentation. Abdominal computed tomography （CT） revealed fluid collection with free air in the abdomen. After CT-guided drainage, we performed additional imaging evaluations and diagnosed the patient with a mesenteric desmoid tumor involving the superior mesenteric artery; the tumor had fistulated to the small bowel and ruptured intraperitoneally. We resected the fistulated small bowel from the desmoid and opened the fistula in the desmoid. However, we did not resect the desmoid to avoid the risk of short bowel syndrome. An ileostomy was created and mucous fistula construction was performed. The patient recovered well and underwent a follow-up CT scan to check the remnant desmoid at our outpatient clinic.

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