Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma Article Swipe
Alexandre Buffet
,
Laurène Ben Aim
,
Sophie Leboulleux
,
D. Drui
,
Delphine Vezzosi
,
Rossella Libé
,
Christiane Ajzenberg
,
Danièle Bernardeschi
,
Bertrand Cariou
,
Frédéric Chabolle
,
Olivier Chabre
,
Vincent Darrouzet
,
Brigitte Delemer
,
Rachel Desailloud
,
Bernard Goichot
,
Annabelle Esvant
,
Lucile Offredo
,
Philippe Herman
,
Sandrine Laboureau
,
Hervé Lefèbvre
,
P. Pierre
,
I. Raingeard
,
Yves Reznik
,
Jean‐Louis Sadoul
,
Julien Hadoux
,
Antoine Tabarin
,
Igor Tauveron
,
Delphine Zénaty
,
Judith Favier
,
Jérôme Bertherat
,
Éric Baudin
,
Laurence Amar
,
Anne‐Paule Gimenez‐Roqueplo
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1210/jc.2018-02411
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1210/jc.2018-02411
Context Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL. Objective Our objective was to evaluate how a positive genetic test impacts the management and outcome of patients with SDHx or VHL-related PPGL. Design We performed a multicentric retrospective study involving 221 propositi carrying an SDHB, SDHD, SDHC, or VHL germline mutation. Patients were divided into two groups: genetic patients, who were informed of their genetic status within the year following the first PPGL diagnosis, and historic patients, who only benefited from the genetic test several years after initial PPGL diagnosis. Results Genetic patients had better follow-up than historic patients, with a greater number of examinations and a reduced number of patients lost to follow-up (9.6% vs 72%, respectively). During follow-up, smaller (18.7 vs 27.6 mm; P = 0.0128) new PPGLs and metastases as well as lower metastatic spread were observed in genetic patients. Of note, these differences were reversed in the historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival rate than historic patients (P = 0.0127). Conclusion Altogether, our data suggest that early knowledge of genetic status had a positive impact on the management and clinical outcome of patients with a germline SDHx or VHL mutation.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1210/jc.2018-02411
- https://academic.oup.com/jcem/article-pdf/104/4/1109/27979761/jc.2018-02411.pdf
- OA Status
- bronze
- Cited By
- 115
- References
- 31
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2913033769
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2913033769Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1210/jc.2018-02411Digital Object Identifier
- Title
-
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or PheochromocytomaWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-01-29Full publication date if available
- Authors
-
Alexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, D. Drui, Delphine Vezzosi, Rossella Libé, Christiane Ajzenberg, Danièle Bernardeschi, Bertrand Cariou, Frédéric Chabolle, Olivier Chabre, Vincent Darrouzet, Brigitte Delemer, Rachel Desailloud, Bernard Goichot, Annabelle Esvant, Lucile Offredo, Philippe Herman, Sandrine Laboureau, Hervé Lefèbvre, P. Pierre, I. Raingeard, Yves Reznik, Jean‐Louis Sadoul, Julien Hadoux, Antoine Tabarin, Igor Tauveron, Delphine Zénaty, Judith Favier, Jérôme Bertherat, Éric Baudin, Laurence Amar, Anne‐Paule Gimenez‐RoqueploList of authors in order
- Landing page
-
https://doi.org/10.1210/jc.2018-02411Publisher landing page
- PDF URL
-
https://academic.oup.com/jcem/article-pdf/104/4/1109/27979761/jc.2018-02411.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/jcem/article-pdf/104/4/1109/27979761/jc.2018-02411.pdfDirect OA link when available
- Concepts
-
Paraganglioma, SDHD, SDHB, Genetic testing, Pheochromocytoma, Germline mutation, Medicine, Germline, Context (archaeology), Internal medicine, Genetic counseling, Oncology, Human genetics, Mutation, Bioinformatics, Genetics, Surgery, Biology, Gene, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
115Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 8, 2024: 16, 2023: 16, 2022: 18, 2021: 22Per-year citation counts (last 5 years)
- References (count)
-
31Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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