Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.

Davidoff, DF; Benn, DE; Field, M; Crook, A; Robinson, BG; Tucker, K; De Abreu Lourenco, R; Burgess, JR; Clifton-Bligh, RJ

Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.

Davidoff, DF Benn, DE Field, M Crook, A

Robinson, BG Tucker, K De Abreu Lourenco, R

Burgess, JR Clifton-Bligh, RJ

Permalink

Publisher:: Endocrine Society
Publication Type:: Journal Article
Citation:: Journal of Clinical Endocrinology and Metabolism, 2022, 107, (5), pp. e1907-e1916
Issue Date:: 2022-04-19

Open Access

Copyright Clearance Process

Recently Added
In Progress
Open Access

This item is open access.

Adobe PDF

Download dgac019.pdfAdobe PDF (548.03 kB)

View on publisher's site

View statistics

Full metadata record

Field	Value	Language
dc.contributor.author	Davidoff, DF
dc.contributor.author	Benn, DE
dc.contributor.author	Field, M
dc.contributor.author	Crook, A https://orcid.org/0000-0001-5578-0460
dc.contributor.author	Robinson, BG
dc.contributor.author	Tucker, K
dc.contributor.author	De Abreu Lourenco, R https://orcid.org/0000-0002-5978-8774
dc.contributor.author	Burgess, JR
dc.contributor.author	Clifton-Bligh, RJ
dc.date.accessioned	2022-11-30T03:21:50Z
dc.date.available	2022-11-30T03:21:50Z
dc.date.issued	2022-04-19
dc.identifier.citation	Journal of Clinical Endocrinology and Metabolism, 2022, 107, (5), pp. e1907-e1916
dc.identifier.issn	0021-972X
dc.identifier.issn	1945-7197
dc.identifier.uri	http://hdl.handle.net/10453/163892
dc.description.abstract	CONTEXT: Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is widely recommended carriers enter a surveillance program to detect tumors, but there are limited studies addressing outcomes of surveillance protocols for SDHB PV carriers. OBJECTIVE: The purpose of this study was to describe surveillance-detected (s-d) tumors in SDHB PV carriers enrolled in a surveillance program and to compare their outcomes to probands. METHODS: This was a multicenter study of SDHB PV carriers with at least 1 surveillance episode (clinical, biochemical, imaging) in Australian genetics clinics. Data were collected by both retrospective and ongoing prospective follow-up. Median duration of follow-up was 6.0 years. RESULTS: 181 SDHB PV carriers (33 probands and 148 nonprobands) were assessed. Tumors were detected in 20% of nonprobands undergoing surveillance (age range 9-76 years). Estimated 10-year metastasis-free survival was 66% for probands and 84% for nonprobands with s-d tumors (P = .027). S-d tumors were smaller than those in probands (median 27 mm vs 45 mm respectively, P = .001). Tumor size ≥40 mm was associated with progression to metastatic disease (OR 16.9, 95% CI 2.3-187.9, P = .001). Patients with s-d tumors had lower mortality compared to probands: 10-year overall survival was 79% for probands and 100% for nonprobands (P = .029). CONCLUSION: SDHB carriers with s-d tumors had smaller tumors, reduced risk of metastatic disease, and lower mortality than probands. Our results suggest that SDHB PV carriers should undertake surveillance to improve clinical outcomes.
dc.format	Print
dc.language	eng
dc.publisher	Endocrine Society
dc.relation.ispartof	Journal of Clinical Endocrinology and Metabolism
dc.relation.isbasedon	10.1210/clinem/dgac019
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine
dc.subject.classification	Endocrinology & Metabolism
dc.subject.mesh	Adolescent
dc.subject.mesh	Adrenal Gland Neoplasms
dc.subject.mesh	Adult
dc.subject.mesh	Aged
dc.subject.mesh	Australia
dc.subject.mesh	Child
dc.subject.mesh	Germ-Line Mutation
dc.subject.mesh	Humans
dc.subject.mesh	Middle Aged
dc.subject.mesh	Mutation
dc.subject.mesh	Paraganglioma
dc.subject.mesh	Prospective Studies
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Succinate Dehydrogenase
dc.subject.mesh	Young Adult
dc.subject.mesh	Adolescent
dc.subject.mesh	Adrenal Gland Neoplasms
dc.subject.mesh	Adult
dc.subject.mesh	Aged
dc.subject.mesh	Australia
dc.subject.mesh	Child
dc.subject.mesh	Germ-Line Mutation
dc.subject.mesh	Humans
dc.subject.mesh	Middle Aged
dc.subject.mesh	Mutation
dc.subject.mesh	Paraganglioma
dc.subject.mesh	Prospective Studies
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Succinate Dehydrogenase
dc.subject.mesh	Young Adult
dc.subject.mesh	Humans
dc.subject.mesh	Paraganglioma
dc.subject.mesh	Adrenal Gland Neoplasms
dc.subject.mesh	Succinate Dehydrogenase
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Prospective Studies
dc.subject.mesh	Mutation
dc.subject.mesh	Germ-Line Mutation
dc.subject.mesh	Adolescent
dc.subject.mesh	Adult
dc.subject.mesh	Aged
dc.subject.mesh	Middle Aged
dc.subject.mesh	Child
dc.subject.mesh	Australia
dc.subject.mesh	Young Adult
dc.title	Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.
dc.type	Journal Article
utslib.citation.volume	107
utslib.location.activity	United States
utslib.for	1103 Clinical Sciences
utslib.for	1114 Paediatrics and Reproductive Medicine
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Strength - CHERE - Centre for Health Economics Research and Evaluation
pubs.organisational-group	/University of Technology Sydney/Strength - CHT - Health Technologies
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
pubs.organisational-group	/University of Technology Sydney/Centre for Health Technologies (CHT)
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Centre for Health Economics Research and Evaluation
utslib.copyright.status	open_access	*
pubs.consider-herdc	false
dc.date.updated	2022-11-30T03:21:48Z
pubs.issue	5
pubs.publication-status	Published
pubs.volume	107
utslib.citation.issue	5

Abstract:

CONTEXT: Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is widely recommended carriers enter a surveillance program to detect tumors, but there are limited studies addressing outcomes of surveillance protocols for SDHB PV carriers. OBJECTIVE: The purpose of this study was to describe surveillance-detected (s-d) tumors in SDHB PV carriers enrolled in a surveillance program and to compare their outcomes to probands. METHODS: This was a multicenter study of SDHB PV carriers with at least 1 surveillance episode (clinical, biochemical, imaging) in Australian genetics clinics. Data were collected by both retrospective and ongoing prospective follow-up. Median duration of follow-up was 6.0 years. RESULTS: 181 SDHB PV carriers (33 probands and 148 nonprobands) were assessed. Tumors were detected in 20% of nonprobands undergoing surveillance (age range 9-76 years). Estimated 10-year metastasis-free survival was 66% for probands and 84% for nonprobands with s-d tumors (P = .027). S-d tumors were smaller than those in probands (median 27 mm vs 45 mm respectively, P = .001). Tumor size ≥40 mm was associated with progression to metastatic disease (OR 16.9, 95% CI 2.3-187.9, P = .001). Patients with s-d tumors had lower mortality compared to probands: 10-year overall survival was 79% for probands and 100% for nonprobands (P = .029). CONCLUSION: SDHB carriers with s-d tumors had smaller tumors, reduced risk of metastatic disease, and lower mortality than probands. Our results suggest that SDHB PV carriers should undertake surveillance to improve clinical outcomes.

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/163892