Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease

Rı́os, Antonio; Rodrı́guez, José Manuel; Navas, D.; Cepero, Angela; Torregrosa, Nuria; Balsalobre, María; Parrilla, Pascual

doi:10.1245/s10434-016-5149-8

Cited by 24 publications

(13 citation statements)

References 32 publications

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“…It was found that the prevalence of thyroid cancer in at-risk individuals from families with two first-degree relatives is the same as for the general population (4.6% vs. 4.5%, respectively) and is significantly lower than the rate of thyroid cancer in kindred with three or more firstdegree relatives affected (22.7%) (20). Another prospective study by Rios et al involving nine families with two members affected and one family with three members affected reported that 5% of screened at-risk individuals had thyroid cancer, similar to the present-study cohort in kindreds with two affected members and to the incidence in the general population (26). These results are in agreement with Charkes' probability estimates that in kindred with two first-degree family members affected, the probability that the disease is sporadic or a chance occurrence is as high as 62%, but that it decreases to <6% when three or more members are affected (27).…”

Section: Discussionsupporting

confidence: 82%

Results of Screening in Familial Non-Medullary Thyroid Cancer

Kłubo-Gwieździńska

Yang

Merkel

et al. 2017

Thyroid

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Screening of at-risk family members resulted in earlier detection of low-risk FNMTC and was associated with a less aggressive initial treatment. Screening with thyroid ultrasound should be considered in kindred with three or more family members affected by FNMTC. Since active screening might be associated with the risk of overtreatment, it should be implemented with caution, specifically in elderly individuals.

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Section: Discussionsupporting

confidence: 82%

Results of Screening in Familial Non-Medullary Thyroid Cancer

Kłubo-Gwieździńska

Yang

Merkel

et al. 2017

Thyroid

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“…A recent prospective study with yearly screening of atrisk individuals from families with FNMTC at the National Institutes of Health (NIH) by Klubo-Gwiezdzinska et al [48] found thyroid cancer by ultrasound screening in 4.6% individuals from families with two members affected (similar to the estimated prevalence in the general population of 4.5%) [16,49] and in 22.7% of members from families with three or more patients affected. Similar results were reported in a prospective study by Rios et al [50], which screened families with mostly two affected members, and found 5.5% incidence of thyroid cancer. Using a mathematical analysis of the SEER (Surveillance Epidemiology and End Results) database, Charkes [15] concluded that up to 62% of 2-hit families may be sporadic occurrences, while the chance of sporadic DTC in families of three or more affected members is less than 6%.…”

Section: Screeningsupporting

confidence: 90%

Familial non-medullary thyroid cancer: a critical review

Capezzone

Robenshtok

Cantara

et al. 2020

J Endocrinol Invest

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Background Familial non-medullary thyroid carcinoma (FNMTC), mainly of papillary histotype (FPTC), is defined by the presence of the disease in two or more first-degree relatives in the absence of other known familial syndromes. With the increasing incidence of PTC in the recent years, the familial form of the disease has also become more common than previously reported and constitutes nearly 10% of all thyroid cancers. Many aspects of FNMTC are debated, concerning both clinical and genetic aspects. Several studies reported that, in comparison with sporadic PTCs, FPTCs are more aggressive at disease presentation, while other authors reported no differences in the clinical behavior of sporadic and familial PTCs. For this reason, recent guidelines do not recommend screening of family members of patients with diagnosis of differentiated thyroid cancer (DTC). FNMTC is described as a polygenic disorder associated with multiple low- to moderate-penetrance susceptibility genes and incomplete penetrance. At the moment, the genetic factors contributing to the development of FNMTC remain poorly understood, though many putative genes have been proposed in the recent years. Purpose Based on current literature and our experience with FNMTC, in this review, we critically discussed the most relevant controversies, including its definition, the genetic background and some clinical aspects as screening and treatment.

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“…Un recente studio prospettico con screening annuale di individui provenienti da famiglie con FNMTC ha riportato una prevalenza di cancro della tiroide mediante screening ecografico del 4,6% negli individui provenienti da famiglie con due membri affetti (simile alla prevalenza stimata nella popolazione generale di 4,5%) e del 22,7% degli individui provenienti da famiglie con tre o più pazienti affetti [19]. Analoghi risultati sono stati riportati in uno studio prospettico [20] che ha valutato prevalentemente famiglie con solo due membri affetti, riportando il 5,5% di prevalenza di cancro alla tiroide nei familiari di soggetti con FNMTC.…”

Section: La Questione Dello Screeningunclassified

Il carcinoma familiare non midollare della tiroide non sindromico

Capezzone

Castagna

2021

L'Endocrinologo

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SommarioIl carcinoma non midollare della tiroide (non medullary thyroid cancer, NMTC) è generalmente sporadico ma può presentarsi in forma familiare (familial non medullary thyroid cancer, FNMTC) in circa il 10% dei casi. Negli anni si sono accumulate evidenze a favore di una predisposizione genetica ereditaria del FNMTC, come la scoperta di alcuni loci di suscettibilità, la presenza di alterazioni molecolari a carico del complesso telomero-telomerasi e l’evidenza di polimorfismi a singolo nucleotide (SNPs) associati statisticamente al rischio di sviluppare la malattia. Molti studi clinici concordano nell’attribuire al FNMTC un fenotipo più aggressivo rispetto alla controparte sporadica, supportando l’ipotesi che esso rappresenti una entità a sé, clinicamente distinta dalla forma sporadica. Sebbene la presenza di possibile familiarità per carcinoma tiroideo debba essere sempre valutata attraverso un’accurata anamnesi familiare, le attuali linee guida non si esprimono a favore o contro lo screening ecografico nei pazienti con FNMTC non-sindromico. Tuttavia, alla luce delle più attuali conoscenze, sembrerebbe ragionevole raccomandare uno screening ecografico almeno nelle famiglie con tre o più membri affetti.

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Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease

Abstract: Screening allows for the early detection of papillary carcinoma and benign thyroid disease and for this reason we recommend that it is performed periodically. However, more studies, with larger sample sizes, are needed to determine the benefit of screening.

Cited by 24 publications

References 32 publications

Results of Screening in Familial Non-Medullary Thyroid Cancer

Results of Screening in Familial Non-Medullary Thyroid Cancer

Familial non-medullary thyroid cancer: a critical review

Il carcinoma familiare non midollare della tiroide non sindromico

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