TY - JOUR
T1 - Islet cell tumors in von Hippel-Lindau disease
T2 - Increased prevalence and relationship to the multiple endocrine neoplasias
AU - Binkovitz, L. A.
AU - Johnson, C. D.
AU - Stephens, D. H.
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 1990
Y1 - 1990
N2 - Von Hippel-Landau disease is a rare, autosomal-dominant disorder characterized by CNS hemangioblastomas, retinal angiomas, renal cell carcinomas, pheochromocytomas, and visceral cysts. The occurrence of islet cell tumors in von Hippel-Lindau disease has been noted recently. Because of the coexistence of both islet cell tumors and pheochromocytomas in some patients with this disorder, it has been proposed that there may be a continuum of the multiple endocrine neoplasias. However, no large, multifamily study has been published evaluating the prevalence of islet cell tumors and pheochromocytomas in von Hippel-Lindau disease. To assess the frequency of islet cell tumors in this disorder and its relationship to the multiple endocrine neoplasias, we reviewed the clinical and imaging findings of all patients with von Hippel-Lindau disease evaluated at the Mayo Clinic between January 1979 and December 1989. Forty-three patients with von Hippel-Lindau disease from over 25 kindreds were found. Cross-sectional imaging of the pancreas had been performed in 35. Islet cell tumors were found in six (17%) of these, three islet cell adenomas and three islet cell carcinomas. No patient presented with endocrine-related symptoms; four tumors were detected during screening examinations of the abdomen. Two (33%) of these six patients had a coexisting pheochromocytoma. Our review of a large number of patients from many different families with von Hippel-Lindau disease revealed a high prevalence of islet tumors and the frequent coexistence of islet cell tumors and pheochromocytomas. This latter finding supports a continuum of the multiple endocrine neoplastic syndromes.
AB - Von Hippel-Landau disease is a rare, autosomal-dominant disorder characterized by CNS hemangioblastomas, retinal angiomas, renal cell carcinomas, pheochromocytomas, and visceral cysts. The occurrence of islet cell tumors in von Hippel-Lindau disease has been noted recently. Because of the coexistence of both islet cell tumors and pheochromocytomas in some patients with this disorder, it has been proposed that there may be a continuum of the multiple endocrine neoplasias. However, no large, multifamily study has been published evaluating the prevalence of islet cell tumors and pheochromocytomas in von Hippel-Lindau disease. To assess the frequency of islet cell tumors in this disorder and its relationship to the multiple endocrine neoplasias, we reviewed the clinical and imaging findings of all patients with von Hippel-Lindau disease evaluated at the Mayo Clinic between January 1979 and December 1989. Forty-three patients with von Hippel-Lindau disease from over 25 kindreds were found. Cross-sectional imaging of the pancreas had been performed in 35. Islet cell tumors were found in six (17%) of these, three islet cell adenomas and three islet cell carcinomas. No patient presented with endocrine-related symptoms; four tumors were detected during screening examinations of the abdomen. Two (33%) of these six patients had a coexisting pheochromocytoma. Our review of a large number of patients from many different families with von Hippel-Lindau disease revealed a high prevalence of islet tumors and the frequent coexistence of islet cell tumors and pheochromocytomas. This latter finding supports a continuum of the multiple endocrine neoplastic syndromes.
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U2 - 10.2214/ajr.155.3.1974734
DO - 10.2214/ajr.155.3.1974734
M3 - Article
C2 - 1974734
AN - SCOPUS:0025099916
SN - 0361-803X
VL - 155
SP - 501
EP - 505
JO - American Journal of Roentgenology
JF - American Journal of Roentgenology
IS - 3
ER -