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

被引：89

作者：

Buffet, Alexandre ^{[1
,2
]}

Ben Aim, Laurene ^{[3
]}

Leboulleux, Sophie ^{[4
]}

Drui, Delphine ^{[5
]}

Vezzosi, Delphine ^{[2
]}

Libe, Rossella ^{[6
]}

Ajzenberg, Christiane ^{[7
]}

Bernardeschi, Daniele ^{[8
]}

Cariou, Bertrand ^{[5
]}

Chabolle, Frederic ^{[9
]}

Chabre, Olivier ^{[10
]}

Darrouzet, Vincent ^{[11
]}

Delemer, Brigitte ^{[12
]}

Desailloud, Rachel ^{[13
]}

Goichot, Bernard ^{[14
]}

Esvant, Annabelle ^{[15
]}

Offredo, Lucile ^{[1
]}

Herman, Philippe ^{[16
]}

Laboureau, Sandrine ^{[17
]}

Lefebvre, Herve ^{[18
]}

Pierre, Peggy ^{[19
]}

Raingeard, Isabelle ^{[20
]}

Reznik, Yves ^{[21
]}

Sadoul, Jean-Louis ^{[22
]}

Hadoux, Julien ^{[4
]}

Tabarin, Antoine ^{[23
]}

Tauveron, Igor ^{[24
]}

Zenaty, Delphine ^{[25
]}

Favier, Judith ^{[1
]}

Bertherat, Jerome ^{[6
,26
]}

Baudin, Eric ^{[4
]}

Amar, Laurence ^{[26
,27
]}

Gimenez-Roqueplo, Anne-Paule ^{[1
,3
,26
]}

机构：

[1] INSERM, Paris Ctr Rech Cardiovasc, UMR970, Equipe Labellisee Ligue Canc, F-75015 Paris, France

[2] CHU Toulouse, Hop Larrey, Serv Endocrinol, F-31059 Toulouse, France

[3] Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France

[4] Univ Paris Saclay, Gustave Roussy, Serv Med Nucl & Cancerol Endocrinienne, F-94805 Villejuif, France

[5] CHU Nantes, Hop Nord Laennec, Inst Thorax, Serv Endocrinol Diabetol & Malad Metab, F-44093 Nantes, France

[6] Hop Cochin, AP HP, Serv Endocrinol, Ctr Reference Malad Rares Surrenale, F-75014 Paris, France

[7] Hop Henri Mondor, AP HP, Serv Med Interne & Endocrinol, F-94000 Creteil, France

[8] Hop Univ Pitie Salpetriere, AP HP, Serv ORL, Unite Otol Implantol Audit & Chirurg Base Crane, F-75013 Paris, France

[9] Hop Foch, Serv ORL & Chirurg Cervicofaciale, F-92150 Suresnes, France

[10] CHU Grenoble Alpes, Serv Endocrinol, F-38700 Grenoble, France

[11] CHU Bordeaux, Hop Pellegrin, Serv ORL & Chirurg Cervicofaciale, F-33076 Bordeaux, France

[12] CHU Reims, Hop Robert Debre, Serv Endocrinol, F-51092 Reims, France

[13] CHU Amiens Picardie, Hop Nord, Serv Endocrinol, F-80054 Amiens, France

[14] Univ Strasbourg, Fac Med, Hop Univ Strasbourg, Serv Med Interne Endocrinol & Nutr, F-67098 Strasbourg, France

[15] CHU Rennes, Serv Endocrinol, F-35033 Rennes, France

[16] Univ Paris VII, Hop Lariboisiere, AP HP, Serv ORL CCF, F-75010 Paris, France

[17] CHU Angers, Serv Endocrinol, F-49933 Angers, France

[18] CHU Rouen, Serv Endocrinol Diabet & Malad Metab, F-76230 Rouen, France

[19] CHU Tours, Hop Bretonneau, Serv Endocrinol, F-37044 Tours, France

[20] CHU Montpellier, Hop Lapeyronie, Serv Endocrinol, F-34295 Montpellier, France

[21] CHU Caen, Serv Endocrinol, F-14033 Caen, France

[22] CHU Nice, Hop Archet, Serv Endocrinol, F-06202 Nice, France

[23] CHU Bordeaux, Hop Haut Leveque, Serv Endocrinol, F-33600 Pessac, France

[24] CHU Clermont Ferrand, Hop Gabriel Montpied, Serv Endocrinol, F-63003 Clermont Ferrand, France

[25] Hop Univ Robert Debre, AP HP, Serv Endocrinol Diabetol Pediat, Ctr Reference Malad Endocriniennes Rares Croissan, F-75019 Paris, France

[26] Univ Paris 05, PRES Sorbonne Paris Cite, Fac Med, F-75006 Paris, France

[27] Hop Europeen Georges Pompidou, AP HP, Serv Hypertens Arterielle & Med Vasc, F-75015 Paris, France

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2019年 / 104卷 / 04期

关键词：

MUTATIONS; SURVEILLANCE; SURVIVAL; SOCIETY; COHORT; HEAD;

D O I：

10.1210/jc.2018-02411

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1109 / 1118

页数：10

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