School of Medicine and Health Sciences Poster Presentations

Title

The Natural Surgical History of Patients with Germline Von-Hippel Lindau Gene Mutations

Poster Number

139

Document Type

Poster

Publication Date

3-2016

Abstract

Introduction: Germline mutations of the Von Hippel Lindau (VHL) gene cause multiple pathologic manifestations including renal and adrenal tumors, hemangioblastomas of the brain and spinal cord, pancreatic neuroendocrine tumors, and cystadenomas of the epididymis and broad ligament. As a result, affected patients undergo numerous surgical interventions over the course of their lives. The purpose of this retrospective review is to better characterize the natural surgical history of this condition in the modern management era.

Materials and Methods: We queried the National Institute of Health (NIH) database for all deceased patients with a history of VHL. These charts were reviewed and detailed surgical history for treatment of VHL-related manifestations was collected. Surgical procedures performed both at outside institutions and at NIH were included.

Results: 123 patients were identified of which 4 did not require any surgical procedures. Mean patient age at the time of first surgical procedure was 33 years (range 6-67) and mean age at death 51.5 years (18-95). The mean time that each patient was followed from first procedure to death was 18 years (0-51). The population of patients studied underwent procedures dating from 1970 to 2014. The mean number of kidney related procedures per patient who required at least one kidney procedure were 2.69. Patients underwent a mean of 5.7 (0-31) surgical procedures for treatment of VHL manifestations during their lifetime. Figure 1 presents number of procedures by organ system in our population. 72 out of 123 (58.5%) patients had at least one renal surgery for treatment of a renal tumor and 40 (32.5%) had an adrenal surgery. Only 10% (12/123) ultimately required bilateral nephrectomy and subsequent dialysis.

Conclusions: Patients with germline VHL mutations require many surgical interventions throughout a lifetime. Only a small minority of patients will eventually require bilateral nephrectomy and transplant. Brain and spinal cord tumors are the most common cause for surgical intervention followed by genitourinary tumors. These data may be useful in counseling newly diagnosed patients.

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Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

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Presented at: GW Research Days 2016

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The Natural Surgical History of Patients with Germline Von-Hippel Lindau Gene Mutations

Introduction: Germline mutations of the Von Hippel Lindau (VHL) gene cause multiple pathologic manifestations including renal and adrenal tumors, hemangioblastomas of the brain and spinal cord, pancreatic neuroendocrine tumors, and cystadenomas of the epididymis and broad ligament. As a result, affected patients undergo numerous surgical interventions over the course of their lives. The purpose of this retrospective review is to better characterize the natural surgical history of this condition in the modern management era.

Materials and Methods: We queried the National Institute of Health (NIH) database for all deceased patients with a history of VHL. These charts were reviewed and detailed surgical history for treatment of VHL-related manifestations was collected. Surgical procedures performed both at outside institutions and at NIH were included.

Results: 123 patients were identified of which 4 did not require any surgical procedures. Mean patient age at the time of first surgical procedure was 33 years (range 6-67) and mean age at death 51.5 years (18-95). The mean time that each patient was followed from first procedure to death was 18 years (0-51). The population of patients studied underwent procedures dating from 1970 to 2014. The mean number of kidney related procedures per patient who required at least one kidney procedure were 2.69. Patients underwent a mean of 5.7 (0-31) surgical procedures for treatment of VHL manifestations during their lifetime. Figure 1 presents number of procedures by organ system in our population. 72 out of 123 (58.5%) patients had at least one renal surgery for treatment of a renal tumor and 40 (32.5%) had an adrenal surgery. Only 10% (12/123) ultimately required bilateral nephrectomy and subsequent dialysis.

Conclusions: Patients with germline VHL mutations require many surgical interventions throughout a lifetime. Only a small minority of patients will eventually require bilateral nephrectomy and transplant. Brain and spinal cord tumors are the most common cause for surgical intervention followed by genitourinary tumors. These data may be useful in counseling newly diagnosed patients.