In:
Endocrine-Related Cancer, Bioscientifica, Vol. 21, No. 1 ( 2013-10-29), p. 17-25
Kurzfassung:
A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127 , and MAX . Despite increasing importance, data for long-term prognosis 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 and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at 〈 18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL , 15% SDHB , 10% SDHD , 4% NF1 , and one patient each in RET, SDHA , and SDHC . A second primary paraganglial tumor developed in 38% with increasing frequency over time, reaching 50% at 30 years after initial diagnosis. Their prevalence was associated with hereditary disease ( P =0.001), particularly in VHL and SDHD mutation carriers ( VHL vs others, P =0.001 and SDHD vs others, P =0.042). A total of 16 (9%) patients with hereditary disease had malignant tumors, ten at initial diagnosis and another six during follow-up. The highest prevalence was associated with SDHB ( SDHB vs others, P 〈 0.001). Eight patients died (5%), all of whom had germline mutations. Mean life expectancy was 62 years with hereditary disease. Hereditary disease and the underlying germline mutation define the long-term prognosis of pediatric patients in terms of prevalence and time of second primaries, malignant transformation, and survival. Based on these data, gene-adjusted, specific surveillance guidelines can help effective preventive medicine.
Materialart:
Online-Ressource
ISSN:
1351-0088
,
1479-6821
Sprache:
Unbekannt
Verlag:
Bioscientifica
Publikationsdatum:
2013
ZDB Id:
2010895-3
