The Journal of clinical endocrinology and metabolism · 2021
Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Saie Clotilde, Buffet Alexandre, Abeillon Juliette, Drui Delphine, Leboulleux Sophie, Bertherat Jérôme, Zenaty Delphine, Storey Caroline, Borson-Chazot Françoise, Burnichon Nelly, Vincent Marie, Favier Judith, Baudin Eric, Giraud Sophie, Gimenez-Roqueplo Anne-Paule, Amar Laurence, Lussey-Lepoutre Charlotte
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdrenal Gland NeoplasmsAdultAgedAged, 80 and overAsymptomatic DiseasesChildCohort StudiesDiagnostic Tests, RoutineEarly Detection of CancerFemaleFranceGenetic Association StudiesGenetic Carrier ScreeningGerm-Line MutationHeterozygoteHumansMaleMass ScreeningMiddle AgedParagangliomaPheochromocytomaProtein SubunitsRetrospective StudiesSuccinate DehydrogenaseYoung Adult