Julie R Solomon, Keith A Lawson, Cathy Vocke, Laura S Schmidt, Chris Ricketts, W Marston Linehan, Mark W Ball
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引用次数: 0
Abstract
Objective: To define a classification schema for von Hippel-Lindau patients who have a pheochromocytoma predominant phenotyope.
Materials and methods: Von Hippel-Lindau patients who underwent adrenalectomy with pathology-proven pheochromocytoma at our institution were included. We defined pheochromocytoma-predominant von Hippel-Lindau a priori as patients with one or more of the following traits: early onset [age at first pheochromocytoma below the cohort's median age (28.2 years)], family history of pheochromocytomas, multiple pheochromocytomas, and paraganglioma(s). Patients with pheochromocytoma-predominant disease were compared to the remaining cohort to determine differences in genotype and phenotype.
Results: One-hundred thirty-nine von Hippel-Lindau patients were examined. Preliminary analysis showed that three characteristics (early onset, family history, and multiple pheochromocytomas) were associated. Having paraganglioma(s) did not correlate with the other factors, so it was excluded from the definition of pheochromocytoma-predominant disease. The majority of our patients (110/139, 79%) met the final definition. Pheochromocytoma-predominant patients were less likely to have most additional von Hippel-Lindau tumor types, including renal cell carcinoma (p<0.001) whereas they were more likely to have missense mutations (p<0.001) than the remaining cohort. Overall, pheochromocytoma-predominant patients were most likely to have 0 (p<0.001) or 1 (p=0.008) extra-adrenal tumor types while non-pheochromocytoma-predominant patients were most likely to have 4 (p=0.02) or 5 (p=0.02).
Conclusions: Pheochromocytoma-predominant von Hippel-Lindau patients are phenotypically distinct from their non-pheochromocytoma-predominant counterparts and are significantly less likely to have more than one other von Hippel-Lindau manifestation, including renal carcinoma.
期刊介绍:
Urology is a monthly, peer–reviewed journal primarily for urologists, residents, interns, nephrologists, and other specialists interested in urology
The mission of Urology®, the "Gold Journal," is to provide practical, timely, and relevant clinical and basic science information to physicians and researchers practicing the art of urology worldwide. Urology® publishes original articles relating to adult and pediatric clinical urology as well as to clinical and basic science research. Topics in Urology® include pediatrics, surgical oncology, radiology, pathology, erectile dysfunction, infertility, incontinence, transplantation, endourology, andrology, female urology, reconstructive surgery, and medical oncology, as well as relevant basic science issues. Special features include rapid communication of important timely issues, surgeon''s workshops, interesting case reports, surgical techniques, clinical and basic science review articles, guest editorials, letters to the editor, book reviews, and historical articles in urology.