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Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease
BACKGROUND: von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (VHL). Early detection and treatment are essential to prevent morbidity and mortality. We evaluated the effectiveness of surveillance strategies and the utility of a VHL...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society for Laboratory Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8677470/ https://www.ncbi.nlm.nih.gov/pubmed/34907105 http://dx.doi.org/10.3343/alm.2022.42.3.352 |
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author | Yoon, Sun Joo Kwon, Won Kyung Hong, Geehay Jang, Ja-Hyun Jeong, Byong Chang Kim, Jae Hyeon Kim, Jong-Won |
author_facet | Yoon, Sun Joo Kwon, Won Kyung Hong, Geehay Jang, Ja-Hyun Jeong, Byong Chang Kim, Jae Hyeon Kim, Jong-Won |
author_sort | Yoon, Sun Joo |
collection | PubMed |
description | BACKGROUND: von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (VHL). Early detection and treatment are essential to prevent morbidity and mortality. We evaluated the effectiveness of surveillance strategies and the utility of a VHL clinic with a multidisciplinary team for the first time in Korea. METHODS: The VHL clinic was organized at the Samsung Medical Center in 2011 and consisted of a multidisciplinary team, including an endocrinologist, urologist, general surgeon, neurosurgeon, ophthalmologist, otolaryngologist, and radiologist. Biochemical and imaging surveillance and personalized genetic counseling were conducted at the VHL clinic and patients were referred to the necessary departments upon detection of disease manifestation. We divided the patients in three groups (I–III) based on their compliance to VHL clinic attendance. RESULTS: Between 2011 and 2018, 50 VHL patients were identified by VHL molecular analysis and referred to the VHL clinic. Most patients regularly participated in imaging of the central nervous system (43/50, 86.0%) and of the abdomen (46/50, 92.0%). However, there were differences in compliance to determination of the catecholamine level, audiometry, and ophthalmic examination among the three groups. CONCLUSIONS: We present the results of using a multidisciplinary team approach and showed that the VHL clinic strategy is useful for the comprehensive surveillance and management of VHL disease. We hope that VHL clinics will be widely set up in hospitals to improve prognosis in patients with VHL. |
format | Online Article Text |
id | pubmed-8677470 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Korean Society for Laboratory Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-86774702022-05-01 Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease Yoon, Sun Joo Kwon, Won Kyung Hong, Geehay Jang, Ja-Hyun Jeong, Byong Chang Kim, Jae Hyeon Kim, Jong-Won Ann Lab Med Original Article BACKGROUND: von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (VHL). Early detection and treatment are essential to prevent morbidity and mortality. We evaluated the effectiveness of surveillance strategies and the utility of a VHL clinic with a multidisciplinary team for the first time in Korea. METHODS: The VHL clinic was organized at the Samsung Medical Center in 2011 and consisted of a multidisciplinary team, including an endocrinologist, urologist, general surgeon, neurosurgeon, ophthalmologist, otolaryngologist, and radiologist. Biochemical and imaging surveillance and personalized genetic counseling were conducted at the VHL clinic and patients were referred to the necessary departments upon detection of disease manifestation. We divided the patients in three groups (I–III) based on their compliance to VHL clinic attendance. RESULTS: Between 2011 and 2018, 50 VHL patients were identified by VHL molecular analysis and referred to the VHL clinic. Most patients regularly participated in imaging of the central nervous system (43/50, 86.0%) and of the abdomen (46/50, 92.0%). However, there were differences in compliance to determination of the catecholamine level, audiometry, and ophthalmic examination among the three groups. CONCLUSIONS: We present the results of using a multidisciplinary team approach and showed that the VHL clinic strategy is useful for the comprehensive surveillance and management of VHL disease. We hope that VHL clinics will be widely set up in hospitals to improve prognosis in patients with VHL. Korean Society for Laboratory Medicine 2022-05-01 2022-05-01 /pmc/articles/PMC8677470/ /pubmed/34907105 http://dx.doi.org/10.3343/alm.2022.42.3.352 Text en © Korean Society for Laboratory Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Yoon, Sun Joo Kwon, Won Kyung Hong, Geehay Jang, Ja-Hyun Jeong, Byong Chang Kim, Jae Hyeon Kim, Jong-Won Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title | Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title_full | Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title_fullStr | Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title_full_unstemmed | Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title_short | Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease |
title_sort | genetic counseling and long-term surveillance using a multidisciplinary approach in von hippel–lindau disease |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8677470/ https://www.ncbi.nlm.nih.gov/pubmed/34907105 http://dx.doi.org/10.3343/alm.2022.42.3.352 |
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