Pancreatic cancer and hypercalcemia associated with von Recklinghausen's disease

A 44-year-old man with von Recklinghausen's disease was admitted to our hospital presenting with left hypochondralgia. Computed tomography showed a large mass at the body and tail of the pancreas, with metastatic liver tumors. Endoscopic retrograde pancreatography revealed an obstruction of the main pancreatic duct at the body. In the course of the illness, the patient's serum calcium concentration increased gradually to 13.6 mg/dl, although bone scan with^99mtechnetium demonstrated no accumulation in the bones. Serum levels of parathyroid hormone related-protein and tumor necrosis factor were also elevated. Based on these findings, he was diagnosed as having pancreatic cancer with liver metastases and humoral hypercalcemia of malignancy associated with von Recklinghausen's disease. Postmortem examination revealed a solid tumor, measuring 6.0×6.0×8.0 cm, in the body and tail of the pancreas. Histologically, the tumor was moderately differentiated adenocarcinoma. The association of von Recklinghausen's disease with maliganant neurogenic neoplasms is well established, whereas the association with non-neurogenic malignant neoplasm is considered to coincidental. Our current case suggests a possible relationship between von Recklinghausen's disease and pancreatic cancer.     

Congenital hepatic fibrosis associated with von Recklinghausen's disease.

Congenital hepatic fibrosis is characterized by a ductal plate malformation with duct-like structures and fibrosis. It manifests clinically with portal hypertension and may be associated with multiple congenital defects. We present the case of a 16-year-old male with splenomegaly, leukopenia and thrombocytopenia, esophageal varices, and a histopathological diagnosis of congenital hepatic fibrosis. He exhibits "café au lait" spots and "Lisch" nodules, with a diagnosis of von Recklinghausen s disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases, in which there is a disordered interaction between cells and the extracellular matrix. Von Recklinghausen s disease affects tissues derived from the neural crest and its diagnosis is based on clinical criteria. It is associated with multiple diseases. We describe its association with congenital hepatic fibrosis for the first time.     

von Recklinghausen's disease associated with malignant lymphoma

A 59-year-old man was admitted to the Saga Medical School Hospital in November 1986 because of unconsciousness and lymph node swelling. He had café au leit spots and multiple neurofibromas since his thirties. The leukocyte count was increased. The level of serum LDH and Ca were extremely elevated. His bone marrow aspiration showed the invasion of lymphoma cells. Lymph node biopsy from his left neck and the study of surface markers were performed. And then, his illness was diagnosed as non-Hodgkin's lymphoma (diffuse, medium sized cell type, B cell type, stage IV B.) following von Recklinghausen's disease. After the admission, his general condition improved by chemotherapy, but he had a relapse 6 months later. And he died in November 1987. The case of von Recklinghausen's disease associated with malignant lymphoma in rarely reported. We reviewed the literature and discussed von Recklinghausen's disease associated with malignant lymphoma including this case.     

Mixed connective tissue disease associated with von Recklinghausen's neurofibromatosis

We report a 42-year-old Japanese woman with Recklinghausen's neurofibromatosis 1 (NF1) who developed mixed connective tissue disease (MCTD). Previously experiencing good health without an increase in subcutaneous nodules, she presented with Raynaud's phenomenon, swollen hands and polyarthralgia Clinical examination revealed a high titer of anti-RNP antibody, and she was thus diagnosed as having MCTD. She was treated with oral prednisolone (10 mg/day) and her symptoms improved rapidly. Since the association of MCTD and NF1 has not been reported previously, we concluded that this association is rare. We also discussed the association of NF1 and autoimmune diseases including MCTD.     

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

Received: August 3, 2000 / Accepted: January 26, 2001     

Pancreatic mucinous cystadenoma.

We report here the case of a 75-year-old lady who presented to us with a 4-month history of abdominal symptoms. The computed tomography scan revealed a cystic lesion in the tail of the pancreas. Distal pancreatectomy was done and biopsy showed a benign mucinous neoplasm. Because this is potentially malignant it is vital to diagnose it before it becomes malignant; identification of this entity remains a diagnostic and therapeutic challenge.     

Pancreatic mucinous cystadenoma associated with celiac disease and polycystic kidneys. Case report and short review of the literature

We report a case of giant benign pancreatic mucinous cystadenoma in a 19-year-old woman with celiac disease and polycystic kidneys. She presented with a history of moderate episodic left flank pain evolving for a few weeks before becoming acute the night before her admission. We provide radiological and histological material and a short review of the literature.     

Ampullary somatostatinoma in a patient with von Recklinghausen's disease

We report a case of somatostatinoma of the ampulla of Vater associated with von Recklinghausen's disease in a 44-year-old woman. On admission the patient was jaundiced, and percutaneous Cholangiodrainage was performed. Cholangiography revealed stenosis of the common bile duct at the lower end Duodenoscopy showed a yellowish tumor of the ampulla of Vater, and the biopsy specimens showed no malignant cells. Pylorus-preserving pancreaticoduodenectomy was performed. Histologically, the tumor was composed of small round cells with a solid or trabecular pattern and with multiple psammoma bodies. Immunohistochemical examination showed that the tumor cells stained for somatostatin. Genomic examination showed neither K-ras nor p53 gene mutations of the resected specimen.     

A patient with von Recklinghausen's disease associated with polymyositis, asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma

A 72-year-old woman with von Recklinghausen's disease was referred to our hospital because of pain and muscle weakness in her thighs. She had elevated serum values of creatine kinase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Based on these results, a diagnosis of polymyositis was made. Treatment with prednisolone improved muscle strength, and laboratory values returned to normal. Computed tomography, magnetic resonance imaging of the abdomen, and 131I-metaiodobenzyl guanidine MIBG scintigraphy demonstrated a tumor 3 cm in diameter in the region of the left adrenal gland. Endocrinologic investigation disclosed elevation of serum and urine catecholamines. Since the blood pressure was normal, nonfunctioning pheochromocytoma was diagnosed clinically. The nonhypertensive course was attributed to reduced vascular response to noradrenaline. Serum lactate dehydrogenase. alkaline phosphatase. and asparate aminotransferase became elevated, and abdominal computed tomography showed a well-defined mass measuring 13 x 12 x 10 cm in the right lobe of the liver. The patient underwent right trisegmentectomy and left adrenalectomy. Histologically the adrenal tumor was a typical pheochromocytoma. The hepatic tumor was a leiomyosarcoma consisting of elongated spindle-shaped atypical cells arranged in intersecting bundles. Immunohistochemically, the cells of this tumor were reactive for alpha-smooth muscle actin and vimentin. The leiomyosarcoma recurred and metastasized to the liver. Eight months after onset of symptom, the patient developed hepatic coma and died. The mean age at presentation with pheochromocytoma in von Recklinghausen's disease patients age is 42 years. Our patient was considerably older. To the best of our knowledge this is the first report of a patient with von Recklinghausen's disease developing polymyositis. asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma and illustrates the need to remain aware of the possibility of cancer in von Recklinghausen's disease.