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Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma

Alexandre Buffet 1 Laurène Ben Aim 2 Sophie Leboulleux 3 Delphine Drui 4 Delphine Vezzosi 5 Rossella Libé 6 Christiane Ajzenberg 7 Daniele Bernardeschi 8 Bertrand Cariou 4 Frédéric Chabolle 9 Olivier Chabre 10 Vincent Darrouzet 11 Brigitte Delemer 12 Rachel Desailloud 13 Bernard Goichot 14 Annabelle Esvant 15 Lucile Offredo 1 Philippe Herman 16 Sandrine Laboureau 17 Hervé Lefebvre 18, 19 Peggy Pierre 20 Isabelle Raingeard 21 Yves Reznik 22 Jean-Louis Sadoul 23 Julien Hadoux 24 Antoine Tabarin 25 Igor Tauveron 26 Delphine Zenaty 27 Judith Favier 1 Jérôme Bertherat 6 Eric Baudin 24 Laurence Amar 28, 2 Anne-Paule Gimenez-Roqueplo 1, 2, 28
Abstract : 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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https://hal-normandie-univ.archives-ouvertes.fr/hal-02419895
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Submitted on : Thursday, December 19, 2019 - 4:13:01 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:59 AM

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Alexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, Delphine Drui, Delphine Vezzosi, et al.. Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma. Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2019, 104 (4), pp.1109-1118. ⟨10.1210/jc.2018-02411⟩. ⟨hal-02419895⟩

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