VHL Gene Mutation Analysis of a Chinese Family with Non-Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma

Zhang, Bin; Qian, Jing; Chang, D.; Wang, Yangmin; Zhou, Da-hai; Qiao, Gou-Mei

doi:10.7314/apjcp.2015.16.5.1977

Cited by 3 publications

(7 citation statements)

References 14 publications

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“…A total of 52 studies, assessing 840 participants with vHL type 2, provided information on the frequency of PPGL. Most of these studies were conducted in Europe ( n =18) ( 16 , 17 , 21 , 25 , 26 , 28 , 29 , 62 , 66 , 68 , 70 , 71 , 72 , 73 , 76 , 83 , 91 , 92 ), followed by Eastern Asia ( n =17) ( 35 , 36 , 40 , 44 , 45 , 47 , 48 , 74 , 75 , 77 , 78 , 79 , 80 , 81 , 82 , 86 , 87 ) and North America ( n =9) ( 53 , 59 , 60 , 61 , 63 , 64 , 65 , 69 , 84 ). All studies assessed patients of all age groups, with the mean onset age of PPGL being 28.8 years (as reported in 21 studies ( 21 , 26 , 35 , 40 , 44 , 47 , 55 , 59 , 60 , 61 , 65 , 67 , 71 , 72 , 74 , 77 , 79 , 85 , 86 , …”

Section: Resultsmentioning

confidence: 99%

“…All studies assessed patients of all age groups, with the mean onset age of PPGL being 28.8 years (as reported in 21 studies ( 21 , 26 , 35 , 40 , 44 , 47 , 55 , 59 , 60 , 61 , 65 , 67 , 71 , 72 , 74 , 77 , 79 , 85 , 86 , 87 , 88 )). Six studies reported a consecutive sample ( 16 , 17 , 29 , 66 , 77 , 78 ), whereas in 39 studies a convenience sample was assessed ( 21 , 25 , 35 , 45 , 47 , 53 , 56 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 ).…”

Section: Resultsmentioning

confidence: 99%

“…In addition, 58.3%(20,25,26,32,35,37,41,(43)(44)(45)47,52,53,56,58).A total of 52 studies, assessing 840 participants with vHL type 2, provided information on the frequency of PPGL. Most of these studies were conducted in Europe (n=18)(16,17,21,25,26,28,29,62,66,68,(70)(71)(72)(73)76,83,91,92), followed by Eastern Asia (n=17)(35,36,40,44,45,47,48,74,75,(77)(78)(79)(80)(81)(82)86,87) and North Americ...…”

mentioning

confidence: 99%

“…,36,40,44,45,48,53,55,56,64,66-68,72,77,78,83,84,86,88,89,91,93) (Table1). Low or undetectable heterogeneity was observed when performing subgroup analyses restricted to European studies (pooled frequency=37.8%, 95%CI=27.8-48.9%, p=0.778, I²=0%) or to studies using convenience sampling (pooled frequency=55.9%, 95%CI=46.1-65.2%, p=0.135, I²=12.7%) Lastly, in eleven studies, with a total of 52 participants with vHL type 2C, information was provided on the frequency of PPGL among these patients(25,26,29,40,44,45,59,74,76,87,90).The meta-analytical frequency was of 84.1% (95%CI=75.1-93.1%), with no heterogeneity observed (I²=0%)(25,26,29,40,44,45,59,74,76,87,90) (Table…”

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confidence: 99%

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Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

Castro-Teles

Sousa‐Pinto

Rebelo

et al. 2021

Endocrine Connections

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Objective: Pheochromocytomas are a hallmark feature of von Hippel-Lindau disease (vHL). To our knowledge, this is the first systematic review with meta-analysis evaluating the frequency of pheochromocytomas and/or paragangliomas (PPGL) in patients with vHL, as well as among patients with different vHL subtypes. Design: Systematic review with meta-analysis. Methods: We searched on MEDLINE, Scopus and Web of Science. We included primary studies assessing participants with vHL and reporting on the frequency of PPGL. We performed random-effects meta-analysis to quantitatively assess the frequency of PPGL, followed by meta-regression and subgroup analysis. Risk of bias analysis was performed to assess primary studies’ methodological quality. Results: We included 80 primary studies. In 4263 patients with vHL, the pooled frequency of PPGL was 19.4% (95% confidence interval (CI)=15.9-23.6%, I²=86.1%). The frequency increased to 60.0% in patients with vHL type 2 (95%CI=53.4-66.3%, I²=54.6%) and was determined to be of 58.2% in patients with vHL type 2A (95%CI=49.7-66.3%, I²=36.2%), compared to 49.8% in vHL type 2B (95%CI=39.9-59.7%, I²=42.7%), and 84.1% in vHL type 2C (95%CI=75.1-93.1%, I²=0%). In meta-regression analysis, more recent studies were associated with a higher frequency of PPGL. All studies had at least one internal validity item classified as 'high risk of bias', with 13% studies having low risk of bias in all external validity items. Conclusions: PPGL are a common manifestation of vHL. Despite methodological limitations and differences across primary studies, our results point to the importance of PPGL screening in patients with vHL.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

Castro-Teles

Sousa‐Pinto

Rebelo

et al. 2021

Endocrine Connections

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“…Germline and somatic mutations have been collected from 35 36 37 38 , integrated 39 40 41 and annotated with predictions on protein stability. The final dataset is made up of 1,074 mutations and, to the best of our knowledge, represents the largest publicly available repository of pathogenic pVHL variants.…”

Section: Database Descriptionmentioning

confidence: 99%

VHLdb: A database of von Hippel-Lindau protein interactors and mutations

Tabaro

Minervini

Sundus

et al. 2016

Sci Rep

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Mutations in von Hippel-Lindau tumor suppressor protein (pVHL) predispose to develop tumors affecting specific target organs, such as the retina, epididymis, adrenal glands, pancreas and kidneys. Currently, more than 400 pVHL interacting proteins are either described in the literature or predicted in public databases. This data is scattered among several different sources, slowing down the comprehension of pVHL’s biological role. Here we present VHLdb, a novel database collecting available interaction and mutation data on pVHL to provide novel integrated annotations. In VHLdb, pVHL interactors are organized according to two annotation levels, manual and automatic. Mutation data are easily accessible and a novel visualization tool has been implemented. A user-friendly feedback function to improve database content through community-driven curation is also provided. VHLdb presently contains 478 interactors, of which 117 have been manually curated, and 1,074 mutations. This makes it the largest available database for pVHL-related information. VHLdb is available from URL: http://vhldb.bio.unipd.it/.

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Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma

Richter,

Bechmann

2024

Journal of the Endocrine Society

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Context Sexual and ancestral differences in driver gene prevalence have been described in many cancers, but have not yet been investigated in pheochromocytoma and paraganglioma (PPGL). Objective This study aims to assess whether sex and ancestry influence prevalence of PPGL driver genes and clinical presentation. Methods We conducted a retrospective analysis of patients with PPGL considering studies from 2010 onwards that included minimal data of type of disease, sex, mutated gene, and country of origin. Additional features were recorded when available (age, tumor location, bilateral or multifocal, somatic or germline, and metastatic disease). Results We included 2162 patients from which 877 originated in Europe and 757 in Asia. Males presented more often with germline pathogenic variants (PVs) in genes activating hypoxia pathways (p=0.0006), had more often sympathetic paragangliomas (p=0.0005) and metastasis (p=0.0039). On the other hand, females with PPGLs due to MAX PVs were diagnosed later than males (p=0.0378) and developed more often metastasis (p=0.0497). European but not Asian females presented more often with PPGLs due to PVs in genes related to kinase signaling (p=0.0052), particularly RET and TMEM127. Contrary to experiences from Europe, Asian patients with PPGL due to PVs in kinase signaling genes NF1, HRAS, and FGFR1 showed a high proportion of sympathetic tumors, while European patients almost exclusively have adrenal tumors (p<0.005). Conclusions Personalized management of patients with PPGL might benefit from considering sexual and ancestral differences. Further studies with better clinically aligned cohorts from various origins are required to better dissect ancestral influences on PPGL development.

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VHL Gene Mutation Analysis of a Chinese Family with Non-Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma

Cited by 3 publications

References 14 publications

Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

Pheochromocytomas and paragangliomas in von Hippel–Lindau disease: not a needle in a haystack

VHLdb: A database of von Hippel-Lindau protein interactors and mutations

Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma

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