2026-05-17T01:15:59Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/260712025-12-18T12:56:22Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Cascon Soriano, Alberto
author
Cebrian, Arancha
author
Pollan, Marina
author
Ruiz-Llorente, Sergio
author
Montero-Conde, Cristina
author
Leton, Rocio
author
Gutierrez, Ruth
author
Lesueur, Fabienne
author
Milne, Roger L
author
Gonzalez-Albarran, Olga
author
Lucas-Morante, Tomas
author
Benitez, Javier
author
Ponder, Bruce A J
author
Robledo Batanero, Mercedes
2025-01-20T12:51:44Z
2025-01-20T12:51:44Z
2005-04
J Clin Endocrinol Metab . 2005 Apr;90(4):2127-30
J Clin Endocrinol Metab
15623805
https://hdl.handle.net/20.500.12105/26071
Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.
eng
RET PROTOONCOGENE
SDHD GENE
PARAGANGLIOMA
MUTATIONS
PHEOCHROMOCYTOMAS
CANCER
Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
research article
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