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

Abstract

We describe a case of malignant endocrine tumor of the pancreas associated with von Recklinghausen's disease. A 66-year-old woman with familial von Recklinghausen's 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 Recklinghausen's disease reported in the world literature.

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

“…In addition, a few cases of pancreatic NETs have been described in patients with the NF1 syndrome. These were somatostatin-producing NETs or insulinomas [29,73,74]. In our series of 541 non-MEN1-associated pancreatic NETs, we identified 19 somatostatin-producing NETs, none of them associated with NF1, and 162 insulinomas, one of them in a patient with NF1.…”

A Case of Pancreatic Neuroendocrine Tumor presenting Iron Deficiency Anemia in a Patient with Neurofibromatosis Type 1

“…(Table 1) [9][10][11][12][13][14][15][16] . Coskey R L [9] n/a Insulinoma n/a n/a Fung J W [10] Episodic hypoglycemia Insulinoma NO n/a Fujisawa T [11] Weight loss，…”

Genetics of pancreatic neuroendocrine tumors: implications for the clinic

“…However, these tumors are frequently somatostatinomas that actually arise in the duodenum 43-45 . Rare cases of gastrinomas, insulinomas and non-functioning PanNETs have been reported in patients with NF1 46-50 .…”

“…The pancreas is involved in only 1% of the cases, and both functional and nonfuctional PanNETs have been reported. Both the proteins encoded by the affected genes NF1 and TSC play key roles in the mTOR signaling pathway, a promising target for therapy in PanNETs (see discussion below) 15, 42, 50, 52 .…”