Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice Article Swipe
Clotilde Saïe
,
Alexandre Buffet
,
J. Abeillon
,
D. Drui
,
Sophie Leboulleux
,
Jérôme Bertherat
,
Delphine Zénaty
,
Caroline Storey
,
Françoise Borson‐Chazot
,
Nelly Burnichon
,
Marie Vincent
,
Judith Favier
,
Éric Baudin
,
Sophie Giraud
,
Anne‐Paule Gimenez‐Roqueplo
,
Laurence Amar
,
Charlotte Lussey‐Lepoutre
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1210/clinem/dgaa888
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1210/clinem/dgaa888
Context When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols. Objective To define the tumor detection rate in a large cohort of asymptomatic SDHX mutation carriers. Design and Setting Retrospective multicentric study in 6 referral centers. Patients Between 2005 and 2019, 249 asymptomatic SDHx (171 SDHB, 31 SDHC, 47 SDHD) mutation carriers, with at least 1 imaging work-up were enrolled. Results Initial work-up, including anatomical (98% of subjects [97–100% according to center]) and/or functional imaging (67% [14–90%]) detected 48 tumors in 40 patients. After a negative initial work-up, 124 patients benefited from 1 to 9 subsequent follow-up assessments (mean: 1.9 per patient), with a median follow-up time of 5 (1–13) years. Anatomical (86% [49–100 %]) and/or functional imaging (36% [7–60 %]) identified 10 new tumors (mean size: 16 mm [4–50]) in 10 patients. Altogether, 58 tumors (55 paraganglioma [PGL], including 45 head and neck PGL, 2 pheochromocytoma [PCC], 1 gastrointestinal stromal tumor [GIST]), were detected in 50 patients (22 [13%] SDHB, 1 [3.2%] SDHC, and 27 [57%] SDHD), with a median age of 41 years old [11–86], 76% without catecholamine secretion and 80% during initial imaging work-up. Conclusions Imaging screening enabled detection of tumors in 20% of asymptomatic SDHx mutation carriers, with a higher detection rate in SDHD (57%) than in SDHB (13%) and SDHC (3%) mutation carriers, arguing for a gene-by-gene approach. Prospective studies using well-defined protocols are needed to obtain strong and useful data.
Related Topics
Concepts
SDHD
SDHB
Paraganglioma
Asymptomatic
Pheochromocytoma
Medicine
Mutation
Context (archaeology)
GiST
Internal medicine
Oncology
Germline mutation
Pathology
Stromal cell
Biology
Genetics
Gene
Paleontology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1210/clinem/dgaa888
- https://academic.oup.com/jcem/article-pdf/106/3/e1301/41832747/dgaa888.pdf
- OA Status
- bronze
- Cited By
- 12
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3108659714
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3108659714Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1210/clinem/dgaa888Digital Object Identifier
- Title
-
Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine PracticeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2020Year of publication
- Publication date
-
2020-11-28Full publication date if available
- Authors
-
Clotilde Saïe, Alexandre Buffet, J. Abeillon, D. Drui, Sophie Leboulleux, Jérôme Bertherat, Delphine Zénaty, Caroline Storey, Françoise Borson‐Chazot, Nelly Burnichon, Marie Vincent, Judith Favier, Éric Baudin, Sophie Giraud, Anne‐Paule Gimenez‐Roqueplo, Laurence Amar, Charlotte Lussey‐LepoutreList of authors in order
- Landing page
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https://doi.org/10.1210/clinem/dgaa888Publisher landing page
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https://academic.oup.com/jcem/article-pdf/106/3/e1301/41832747/dgaa888.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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bronzeOpen access status per OpenAlex
- OA URL
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https://academic.oup.com/jcem/article-pdf/106/3/e1301/41832747/dgaa888.pdfDirect OA link when available
- Concepts
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SDHD, SDHB, Paraganglioma, Asymptomatic, Pheochromocytoma, Medicine, Mutation, Context (archaeology), GiST, Internal medicine, Oncology, Germline mutation, Pathology, Stromal cell, Biology, Genetics, Gene, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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12Total citation count in OpenAlex
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2024: 2, 2023: 4, 2022: 3, 2021: 2Per-year citation counts (last 5 years)
- References (count)
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28Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.asymptomatic | 44, 64, 219 |
| abstract_inverted_index.gene-by-gene | 243 |
| abstract_inverted_index.multicentric | 52 |
| abstract_inverted_index.well-defined | 248 |
| abstract_inverted_index.Retrospective | 51 |
| abstract_inverted_index.catecholamine | 201 |
| abstract_inverted_index.paraganglioma | 17, 159 |
| abstract_inverted_index.gastrointestinal | 171 |
| abstract_inverted_index.pheochromocytoma | 13, 168 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 93 |
| corresponding_author_ids | https://openalex.org/A5037044269 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 17 |
| corresponding_institution_ids | https://openalex.org/I154526488, https://openalex.org/I204730241, https://openalex.org/I39804081, https://openalex.org/I4210095243, https://openalex.org/I4210121705, https://openalex.org/I4210131199 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.4699999988079071 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.86379976 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |