Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.
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Buffet Alexandre, Ben Aim Laurène, Leboulleux Sophie, Drui Delphine, Vezzosi Delphine, Libé Rossella, Ajzenberg Christiane, Bernardeschi Daniele, Cariou Bertrand, Chabolle Frédéric, Chabre Olivier, Darrouzet Vincent, Delemer Brigitte, Desailloud Rachel, Goichot Bernard, Esvant Annabelle, Offredo Lucile, Herman Philippe, Laboureau Sandrine, Lefebvre Hervé, Pierre Peggy, Raingeard Isabelle, Reznik Yves, Sadoul Jean-Louis, Hadoux Julien, Tabarin Antoine, Tauveron Igor, Zenaty Delphine, Favier Judith, Bertherat Jérôme, Baudin Eric, Amar Laurence, Gimenez-Roqueplo Anne-Paule, French Group of Endocrine Tumors (GTE) and COMETE Network
Аннотация
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.