Familial non medullary thyroid carcinoma: Beyond the syndromic forms.

Aida Orois, Mireia Mora, Irene Halperin, Josep Oriola

Journal: Endocrinologia, diabetes y nutricion 2022;68(4):260-269

PMID: 34266638

Full Text on Elsevier Science View on PubMed

Abstract

Familial non-medullary thyroid cancer is defined as the presence of non-medullary thyroid cancer in two or more first-degree relatives, in the absence of other predisposing factors. It represents up to 9% of differentiated thyroid cancers, and only a minority appears in well-known hereditary syndromes that associate thyroid cancer among many other clinical manifestations. However, in more than 95% of cases, thyroid cancer appears isolated, and its genetic causes have yet to be elucidated. We review here the current knowledge of the genetic basis of this pathology, as well as its clinical characteristics. Understanding the genetic mechanisms implied would help to comprehend the metabolic pathways involved, with the consequent potential therapeutic application. In addition, it would allow genetic counseling and to focus our efforts on patients at risk of developing this disorder.

Address: Servicio de Endocrinología y Nutrición, Hospital Universitari Mútua de Terrassa, Terrassa, Barcelona, Spain; Servicio de Endocrinología y Nutrición, ICMDM, Hospital Clínic de Barcelona, Barcelona, Spain. Electronic address: [email protected].; Servicio de Endocrinología y Nutrición, ICMDM, Hospital Clínic de Barcelona, Barcelona, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Facultad de Medicina, Universidad de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Servicio de Endocrinología y Nutrición, ICMDM, Hospital Clínic de Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Facultad de Medicina, Universidad de Barcelona, Barcelona, Spain; Servicio de Bioquímica y Genética Molecular, CDB, Hospital Clínic de Barcelona, Barcelona, Spain.

DOI: 10.1016/j.endien.2020.08.013

Link outs

Free resources

Medical:

https://medlineplus.gov/thyroidcancer.html

Subscription / membership required

Full Text Sources:

MeSH Terms: Humans, Neoplastic Syndromes, Hereditary, Thyroid Cancer, Papillary, Thyroid Neoplasms