Norikazu Sakamoto

Malignant endocrine tumor of the pancreas associated with von Recklinghausen's disease.

We describe a case of malignant endocrine tumor of the pancreas associated with von Recklinghausens disease. A 66-year-old woman with familial von Recklinghausens disease was admitted to our hospital with weight loss and lower abdominal pain. Endoscopy revealed a submucosal tumor in the second part of the duodenum. Contrast-enhanced computed tomography showed a heterogeneous low-density tumor, measuring 20 x 15 mm, in the head of the pancreas, and metastatic lymphadenopathy. Angiography showed faint tumor staining without encasement or apparent increase in vascularity. Pancreatoduodenectomy was performed. Macroscopically, there was a solid tumor, measuring 20 x 18 mm, in the head of the pancreas. Histologically, a malignant endocrine tumor was shown, with direct invasion to the duodenum, and lymph node metastases. This is the thirteenth case of pancreatic malignant tumor and the fourth case of pancreatic endocrine tumor associated with von Recklinghausens disease reported in the world literature.

Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase – a case of familial cholinesterasemia

A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the DNA of a 47-year-old Japanese woman who visited our hospital complaining of hypertension. The propositus exhibited an unusually low level of BChE activity, whereas her younger sister and her daughter had intermediate levels of BChE activity and her elder sister a normal level. Immunologically, the amount of BChE protein in the serum of the propositus was normal. DNA sequence analysis of the propositus identified a point mutation at codon 199 (GCA --> GTA), resulting in a Ala --> Val substitution. This alteration is one downstream codon from the catalytic active site (Ser, 198). A family study showed her younger sister and her daughter to have the same mutation.

Large mucosa-associated lymphoid tissue lymphoma simulating multiple polypoid lesions at the cecum and rectum

Herein we describe a case of mucosa‐associated lymphoid tissue (MALT) lymphoma of the cecum and rectum with the Leser–Trélat sign. A 76‐year‐old Japanese woman was admitted to the Harima Hospital of Ishikawajima‐harima Heavy Industries, Health Insurance Society for hematochezia. Colonoscopy showed two large elevated tumors, one in the cecum and the other in the rectum. Biopsy was not diagnostic. Endoscopic snare loop biopsy specimens from both tumors were diagnosed as MALT lymphoma. After staging to IIE, the patient underwent surgery. Macroscopically, the cecal tumor was elevated with a large and deep depressed region, measuring 40 × 35 mm. The rectal lesion was a large elevated tumor, measuring 80 × 70 mm. Histologically, both tumors were diagnosed as MALT lymphoma and there was no lymph node metastasis. The patient received chemotherapy and there is no evidence of recurrence 1 year after surgery. We present this case to show that colorectal MALT lymphoma can present as a large tumor, even in early clinical stages, that multiple lesions should be anticipated and that surgical treatment is needed in these cases.

Nodule‐aggregating lesion of the ileum: Report of a case and a review of the literature

We describe here a rare case of nodule‐aggregating lesion of the terminal ileum detected by colonoscopy. An 82‐year‐old Japanese woman was admitted to our hospital with diarrhea. Colonoscopy revealed a flat elevated tumor with conglomerated nodular surface involving the entire circumference of the terminal ileum, suggesting a nodule‐aggregating lesion. Magnifying the colonoscopic view showed the branch‐like or gyrus‐like pits. On biopsy, the tumor was diagnosed as a tubulovillous adenoma. Retrograde ileogram using a colonoscope revealed an elevated tumor with nodular irregularity, measuring 5 cm in length. Ileocecal resection was performed. Macroscopically, the tumor in the terminal ileum, 8 cm distant from the ileocecal valve, showed a nodule‐aggregating lesion, measuring 44 × 60 × 6 mm in size. Histologically, the tumor showed a focal carcinoma in tubulovillous adenoma. To our knowledge, this is the fifth case of early cancer of the ileum in Japan, and the first case of nodule‐aggregating lesion of the ileum detected by colonoscopy in the world.

Primary composite tumor with bipartite differentiation of the esophagogastric junction

We describe a rare case of primary composite tumor with bipartite differentiation of the esophagogastric junction. An 88‐year‐old Japanese man with a history of distal subtotal gastrectomy was admitted to Harima Hospital of Ishikawajima‐harima Heavy Industries with dysphagia of 2 months duration. Endoscopy showed a round, sharply demarcated lesion with a smooth surface in the lower esophagus. Distally, the lesion was irregular and elevated with a deep central depression. The gastric cardia was slightly elevated with a granular mucosa. After surgical resection, histological and histochemical findings showed a primary composite tumor with bipartite differentiation of the esophagogastric junction. There is no evidence of recurrence for 21 months after surgery without adjuvant chemotherapy. The present case indicates the necessity for a careful evaluation for accessory lesions in composite tumors containing small cell carcinoma of the esophagogastric junction, and that resectional surgery might not only be the treatment of choice, but also important in the evaluation of immature composite tumor without distant metastases.