Abstract
Background. Patients with von Hippel-Lindau disease (VHL) may develop pancreatic neuroendocrine
tumors (PNETs), which can behave in a malignant fashion. We prospectively evaluated
size criteria for resection of lesions and the role of genotype/phenotype analysis
of germline VHL mutations in predicting clinical course. Methods. From December 1988 through December 1999 we screened 389 patients with VHL. The diagnosis
of PNET was made by pathologic analysis of tissues or by radiographic appearance.
Germline mutations were determined by quantitative Southern blotting, fluorescence
in situ hybridization and complete gene sequencing. Results. Forty-four patients with PNETs have been identified; 25 have undergone surgical resection,
5 had metastatic disease, and 14 are being monitored. No patient who has undergone
resection based on tumor size criteria has developed metastases. Patients with PNETs
were more likely to have missense mutations (58%), and 4 of 5 patients (80%) with
metastatic disease had mutations in exon 3 compared with 18 of 39 (46%) patients without
metastatic disease. Conclusions. Imaging for detection and surgical resection based on size criteria have resulted
in the successful management of VHL patients with PNETs. Analysis of germline mutations
may help identify patients at risk for PNET and which patients may benefit from surgical
intervention. (Surgery 2000;128:1022-8.)
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Article info
Footnotes
*Reprint requests: Steven K. Libutti, MD, Surgery Branch, NCI, Building 10, Room 2B07, 10 Center Drive, Bethesda, MD 20892.
**Surgery 2000;128:1022-8.
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Copyright
© 2000 Mosby, Inc. Published by Elsevier Inc. All rights reserved.
