Hidetoshi Kumano

Reversed intestinal malrotation with concurrent cecal carcinoma.

A 57‐year‐old man was admitted with a type 2 (ulcerated with clear margin) cancer in the cecum. Contrast‐enhanced CT showed that the superior mesenteric vein was anterior to the superior mesenteric artery, and the patient was suspected of having intestinal malrotation. A laparoscopic‐assisted ileocecal resection was performed. At operation, the cecum and the transverse colon passed through the root of the mesentery behind the superior mesenteric artery with the duodenum. Therefore, this was thought to be a reversed‐type intestinal malrotation. After the operation, 3D‐CT colonography with duodenography images were reconstructed to retrospectively confirm the diagnosis of a reversed malrotation. These images clearly demonstrated the abnormal anatomy and overall orientation of the intestine. Patients with a reversed intestinal malrotation and concurrent cecal cancer are extremely rare. Herein, we present a patient who underwent a laparoscopic‐assisted ileocecal resection for cecal cancer that presented concurrently with a reversed intestinal malrotation.

A Unique Retrorectal Tumor With Neuroendocrine Differentiation Case Report and Review of the Literature

Retrorectal or presacral tumors are very rare. We report a unique case of a retrorectal tumor with neuroendocrine differentiation, consisting of high- and low-grade components. A 53-year-old woman treated for a perianal abscess at another clinic was referred to our hospital for continued anal pain. Digital rectal examination identified a soft tumor with a smooth surface in the lower rectum. Pelvic computed tomography and magnetic resonance imaging detected a large cystic tumor measuring 8 cm in diameter in the retrorectal space of the pelvis. The border between the tumor and rectal wall, levator ani and vaginal wall was obscure. Fine-needle aspiration cytology was highly suggestive of carcinoma. Abdominoperineal resection was performed, and the tumor was histologically diagnosed as a neuroendocrine carcinoma based on immunohistochemical staining. No previous case has been reported with cystic growth of a neuroendocrine carcinoma in the retrorectal space.

Successful Management of a Colo-Duodenal Fistula in a Patient with Crohn's Disease Using a Double Lumen Gastro-Jejunostomy Tube

A 41-year-old woman was admitted with upper abdominal pain, vomiting and fever. Abdominal CT scan showed a colo-duodenal fistula with inflammatory thickening of the transverse colon. The patients general health was poor because of hypoalbuminemia and coagulopathy. Endoscopy showed a fistula at the lower duodenal angle and the stomach was filled with refluxed stool. Ileostomy and percutaneous endoscopic gastrostomy were performed at that time and a double lumen gastro-jejunostomy inserted through the gastrostomy to allow both gastric drainage and distal enteral feeding. Nutrition support was gradually converted from parenteral to enteral feeding. Colonoscopy showed stenosis of the transverse colon with a colo-colonic fistula near the stenosis. Two months later, right hemi-colectomy and closure of the colo-duodenal fistula were performed. The resected specimen showed stenosis and a fistula in the transverse colon due to Crohns disease. The colo-colonic fistula was present and the colo-duodenal fistula had almost closed due to fibrosis. The postoperative course was uneventful and the patient was discharged after administration of infliximab. Use of a double lumen gastro-jejunostomy tube was effective in improving the patients general condition. This therapeutic strategy allowed the safe conduct of major resection in a high-risk patient.

Partial duplication of MSH2 spanning exons 7 through 14 in Lynch syndrome

BackgroundLynch syndrome, also referred to as hereditary nonpolyposis colorectal cancer, is the most common form of hereditary colorectal cancer, and is associated with a high incidence of multiple primary neoplasms in various organs.MethodsA 79-year-old woman (patient 1) diagnosed with ascending colon cancer had a history of previous carcinomas of the uterus, stomach, uroepithelial tract, and colon. One year later, she developed a brain tumor (glioblastoma). A 54-year-old female (patient 2) was diagnosed with endometrial cancer and sigmoid colon cancer. Both patients underwent genetic evaluations independently.ResultsNo mutations were found in an exon-by-exon analysis of genomic DNA by polymerase chain reaction (PCR) and reverse transcription (RT)-PCR. However, multiplex ligation-dependent probe amplification (MLPA) identified genomic duplication spanning from exon 7 to exon 14 of the MSH2 gene in both patients. Due to the presence of this characteristic gene duplication, their pedigrees were investigated further, and these showed that they are paternal half-sisters, consistent with paternal inheritance.ConclusionLarge genomic duplication from intron 6 through intron 14 in MSH2 is a very rare cause of Lynch syndrome and is difficult to identify with conventional methods. MLPA may be an alternative approach for detecting large-scale genomic rearrangements.