Familial non‐medullary thyroid carcinoma: pathology review in 27 affected cases from 13 French families

Leprat,; Bonichon,; Trouette,; Trojani,; Vergnot,; Longy,; Belleannée,; Mascarel, de; Roger,

doi:10.1046/j.1365-2265.1999.00687.x

Cited by 31 publications

(33 citation statements)

References 29 publications

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“…The low prevalence of FNMTC, together with small sampling series and short follow-up studies, has limited consistent information on patient survival as well. Some studies have reported distinct clinical behaviours (3,16,17,18,19,20,21), but others have claimed that there are no differences between the two entities (1,22,23,24,25). Our present data seem to support the latter view, as we did not observe, overall, statistical differences in clinicopathological features, DNA ploidy status and outcome measures between familial PTC (whole series) and sporadic PTC.…”

Section: Discussioncontrasting

confidence: 38%

“…Although some studies have reported a less favourable prognosis for FNMTC (3,16,17,18,19,20,21), others did not verify this (1,22,23,24,25), and therefore, the biological and clinical behaviour of this familial disease, as compared with the much more frequent sporadic forms, remains a matter of controversy. Furthermore, data on molecular biomarkers, e.g.…”

Section: Introductionmentioning

confidence: 97%

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Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Pinto

Silva²,

Henrique

et al. 2014

European Journal of Endocrinology

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Objective: Familial non-medullary thyroid cancer has been proposed as an aggressive clinical entity. Our aim in this study is to investigate potential distinguishing features as well as the biological and clinical aggressiveness of familial vs sporadic papillary thyroid carcinoma (PTC). We assessed clinicopathological characteristics, outcome measures and DNA ploidy. Design: A matched-case comparative study. Methods: A series of patients with familial PTC (nZ107) and two subgroups, one with three or more affected elements (nZ32) and another including index cases only (nZ61), were compared with patients with sporadic PTC (nZ107), matched by age, gender, pTNM disease extension and approximate follow-up duration. Histological variant, extrathyroidal extension, vascular invasion, tumour multifocality and bilateral growth were evaluated. Ploidy pattern was analysed in available samples by DNA flow cytometry. The probabilities of disease-free survival (DFS) and overall survival (OS) were estimated according to the Kaplan-Meier (K-M) method. Results: No patient with familial PTC died of disease during follow-up (median, 72 months), contrarily to five patients (4.7%) (PZ0.06) with sporadic PTC (median, 90 months). There was a significantly higher tumour multifocality in familial PTC (index cases subgroup) vs sporadic PTC (PZ0.035), and a trend, in the familial PTC cohort with three or more affected elements, to show extrathyroidal extension (PZ0.054) more frequently. No difference was observed in DNA ploidy status. The K-M analyses showed no significant differences between both entities in relation to DFS or OS. Conclusion: Apart from multifocality, familial PTC appears to have similar clinical/prognostic behaviour when compared with sporadic forms of the disease.

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Section: Discussioncontrasting

confidence: 38%

Section: Introductionmentioning

confidence: 97%

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Pinto

Silva²,

Henrique

et al. 2014

European Journal of Endocrinology

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“…Statistical estimates suggest that a grouping of two family members with NMTC could represent the concurrence of sporadic tumors, but thyroid tumors in three or more members in kindred, or the diagnosis of PTC in men and children, is more suggestive of a familial predisposition. [24][25][26][27][28][29][30][31][32][33][34][35][36][37]61 Although non-medullary thyroid cancer is mostly sporadic, evidence for a familial form, not associated with other Mendelian cancer syndromes described above (eg FAP and CS), is well documented and thought to cause more aggressive disease. The search for a genetic susceptibility locus for FNMTC started about a decade ago.…”

Section: -58mentioning

confidence: 99%

“…FNMTC patients have shorter disease-free survival than do sporadic disease patients because of frequent locoregional recurrence. [24][25][26][27][28][29][30][31][32][33][34][35][36][37]61 The genetic inheritance of FNMTC remains unknown, but it is believed to be an autosomal dominant mode with incomplete penetrance and variable expressivity. Genetic analyses of large FNMTC kindreds not only support the hypothesis of an inherited genetic predisposition to FNMTC, but also represent the first steps in identification of the putative susceptibility genes.…”

Section: -58mentioning

confidence: 99%

Familial thyroid cancer: a review

2011

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“…Do mesmo modo, a identificação dos genes responsáveis pelo CTNMF possivelmente facilitaria o rastreamento e o diagnóstico precoce da doença, aumentando as taxas de cura e de sobrevida. Analisando as várias famílias acometidas pelo CTNMF relatadas na literatura, observa-se acometimento de vários membros na mesma geração e transmissão por genitores de ambos os sexos (25)(26)(27)(28)(29)(30)(31), o que sugere transmissão genética por padrão de herança autossômico dominante, com penetrância variável.…”

Section: Genética Do Carcinoma Da Tiróide Não Medular Familiarunclassified

Carcinoma não medular familiar da tiróide

Santos

Melo

Assumpção

2007

Arq Bras Endocrinol Metab

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RESUMOO carcinoma diferenciado da tiróide, papilífero ou folicular, origina-se da célula folicular tiroideana, sendo a neoplasia maligna mais freqüente desta glândula. Desde 1955 têm sido relatados casos de agrupamento familiar deste carcinoma, e atualmente estima-se que 4,2% de todos os carcinomas diferenciados da tiróide tenham origem familiar. Esses casos costumam ser mais agressivos, incidem em idade mais precoce, são multifocais e apresentam maior taxa de recorrência. Parecem ser transmitidos por herança autossômica dominante com penetrância variável, mas os genes exatos responsáveis pela doença ainda não foram totalmente identificados. Os pacientes devem ser tratados com tiroidectomia total e freqüentemente também com esvaziamento linfonodal cervical, seguidos de ablação com iodo radioativo e terapia supressiva do TSH com levotiroxina. Alguns autores recomendam rastreamento de familiares de primeiro grau dos pacientes afetados através da ultrassonografia cervical, com objetivo de realizar diagnóstico precoce, possibilitando melhores resultados terapêuticos. Nonmedullary thyroid carcinoma, originating from thyroid epithelial cells, is the most frequent thyroid malignant neoplasia. Since 1955, there has been increasing evidence that this cancer may have a familial predisposition. It is now established that around 4.2% of all nonmedullary thyroid carcinomas occurs on the background of familial predisposition. These cases are often more aggressive, due to early onset, multifocality and a higher percentual of recurrences. An autossomal dominant inheritance pattern appears likely in most families, although the exact genes responsible for this syndrome have not yet been identified. Patients affected by this cancer should be treated with total thyroidectomy routinely and, in most cases, lymph node dissection, followed by iodine ablation and TSH suppressive therapy with levothyroxine. Some authors also recommend that first-degree relatives of patients with nonmedullary thyroid cancer (especially women) should be submitted to neck ultrasound for thyroid cancer screening, aiming early diagnosis for better treatment results. A GRANDE MAIORIA DAS NEOPLASIAS malignas tiroideanas tem origem na célula folicular, sendo chamada de carcinomas diferenciados da tiróide (CDT). Histologicamente, podem ser papilíferos ou foliculares. Caracterizam-se por serem esporádicos, entretanto diversos trabalhos têm demonstrado um risco aumentado de 3,21 a 10,3 vezes de CDT em familiares de pacientes afetados por essa neoplasia (1-3). Em 1955, Robinson e Orr relataram casos de câncer da tiróide não medular em gêmeos monozigóti-

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Familial non‐medullary thyroid carcinoma: pathology review in 27 affected cases from 13 French families

Cited by 31 publications

References 29 publications

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Familial vs sporadic papillary thyroid carcinoma: a matched-case comparative study showing similar clinical/prognostic behaviour

Familial thyroid cancer: a review

Carcinoma não medular familiar da tiróide

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