Long-term prognosis of patients with pediatric pheochromocytoma

BIRKE BAUSCH,; ULRICH WELLNER; DIRK BAUSCH; FRANCESCA SCHIAVI,; MARTA BARONTINI; GABRIELA SANSO; MARTIN K WALZ; MARIOLA PECZKOWSKA; GEORGESWERYHA; PATRIZIA DALLIGNA; GIOVANNI CECCHETTO; GIANNI BISOGNO; LARS C MOELLER; DETLEF BOCKENHAUER ; ATTILA PATOCS; KAROLY RA´CZ; DMITRY ZABOLOTNYI; SVETLANA YAREMCHUK; IVETA DZIVITE-KRISANE; FREDERIC CASTINETTI ; DAVID TAIEB; ANGELICA MALINOC; ERNST VON DOBSCHUETZ; JOCHEN ROESSLER; KURT W SCHMID; GIUSEPPE OPOCHER ; CHARIS ENG; HARTMUT P H NEUMANN

ENDOCRINE - RELATED CANCER

BIOSCIENTIFICA LTD

Lugar: Bristol; Año: 2014 vol. 21 p. 17 - 25

1351-0088

AbstractA third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carrygermline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB,SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-termprognosis are scarce in pediatric presentations. The European-American-Pheochromocytoma?Paraganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors,was the platform for this study. Molecular genetic and phenotypic classification andassessment of gene-specific long-term outcome with second and/or malignant paraganglialtumors and life expectancy were performed in patients diagnosed at !18 years. Of 177eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4%NF1, and onepatient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed inKey Words" pheochromocytoma" long-term follow-up" relapse" germline mutationsEndocrine-Related CancerResearch B Bausch et al. Patients with pediatricpheochromocytoma21:1 17?25http://erc.endocrinology-journals.org q 2014 Society for EndocrinologyDOI: 10.1530/ERC-13-0415 Printed in Great BritainPublished by Bioscientifica Ltd.38% with increasing frequency over time, reaching 50% at 30 years after initial diagnosis.Their prevalence was associated with hereditary disease (PZ0.001), particularly in VHL andSDHD mutation carriers (VHL vs others, PZ0.001 and SDHD vs others, PZ0.042). A total of16 (9%) patients with hereditary disease had malignant tumors, ten at initial diagnosis andanother six during follow-up. The highest prevalence was associated with SDHB (SDHB vsothers, P!0.001). Eight patients died (5%), all of whom had germline mutations. Mean lifeexpectancy was 62 years with hereditary disease. Hereditary disease and the underlyinggermline mutation define the long-term prognosis of pediatric patients in terms ofprevalence and time of second primaries, malignant transformation, and survival. Based onthese data, gene-adjusted, specific surveillance guidelines can help effective preventivemedicine. Endocrine-Related Cancer(2014) 21, 17?25