Familial papillary carcinoma of the thyroid

Kraimps, Jean‐Louis; Bouin-Pineau, M.H.; Amati, Patrizia; Mothes, Denis; Bonneau, Dominique; Maréchaud, R.; Barbier, J

doi:10.1016/s0039-6060(97)90063-5

Cited by 46 publications

(42 citation statements)

References 10 publications

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“…The association of mutations in RET with these diseases suggest it as a possible candidate for involvement in the development of familial PTC. However, this gene is not linked to PTC in the Tas1 family and therefore mutations in this gene are unlikely to be a predisposing factor, a result which is in support of previous results reported for other PTC families (7). The remaining genes, TRK, MET, APC, PTEN and TSHR have been associated with sporadic and inherited thyroid pathologies including PTC to varying degrees (16)(17)(18)(19)(20)(21)(22)(23).…”

Section: Discussionsupporting

confidence: 85%

“…There is increasing evidence that there is a familial component to PTC, with between 3.5-6.2% of PTC patients having one or more first degree relatives with thyroid carcinoma (2)(3)(4)(5)(6). Familial aggregations have been noted (7)(8)(9) and we reported the first recognised families predisposed to an autosomal dominant form of PTC with associated multinodular goitre (MNG) (10) (Fig. 1).…”

Section: Introductionmentioning

confidence: 66%

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At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family

Mckay¹,

Williamson

Lesueur

et al. 1999

European Journal of Endocrinology

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Recent studies have mapped two susceptibility loci which appear to account for familial multinodular goitre (MNG1) and a variant of familial papillary thyroid cancer (PTC), with associated multinodular goitre (TCO). A Tasmanian family (Tas1) has been identified with an autosomal dominant form of PTC.This study has examined the MNG1 and TCO loci to determine if they are similarly predisposing the Tas1 family to PTC. Linkage analysis using identical microsatellite markers described in the two previous studies was used to determine the significance of these loci in the Tasmanian family. The resultant LOD scores were sufficiently negative using multipoint parametric analysis to exclude these two loci from involvement in the Tasmanian family.In addition, six candidate genes, RET, TRK, MET, TSHR, APC and PTEN were also excluded as susceptibility genes in Tas1 by using microsatellites that are positioned in or in close proximity to these genes. These results suggest that there are at least three susceptibility genes that predispose families to familial PTC.

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Section: Discussionsupporting

confidence: 85%

Section: Introductionmentioning

confidence: 66%

At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family

Mckay¹,

Williamson

Lesueur

et al. 1999

European Journal of Endocrinology

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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: Discussionsupporting

confidence: 72%

“…In a retrospective matched-case control study of FNMTC, the majority being PTCs, Maxwell et al (24) reported that familial cases tend to have, but not significantly, improved DFS and disease-specific survival. In a classical study (34), based on probability calculation analysis, Charkes pointed out that up to 60% of familial PTCs diagnosed in families with only two affected members might, actually, represent a fortuitous aggregation of sporadic cases, suggesting that the disease may be more accurately diagnosed in families with three or more affected members (17,21). This fact could, therefore, also contribute to misestimate the aggressiveness of familial PTC.…”

Section: Discussionmentioning

confidence: 99%

“…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: 98%

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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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Familial nonmedullary thyroid carcinoma

Malchoff

1999

Semin. Surg. Oncol.

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It is well‐known that medullary thyroid carcinoma occurs in a familial form as part of the multiple endocrine neoplasia (MEN) 2 syndromes. However, it is less well‐recognized that nonmedullary thyroid carcinoma (NMTC) sometimes is familial. Arising from the thyroid epithelial cell, the NMTCs include papillary, follicular, and anaplastic thyroid carcinoma. Although most NMTC are sporadic, there is increasing evidence for a familial form. When inherited, NMTC is autosomal dominant with partial penetrance, and it is not associated consistently with other malignancies. The average age of onset is about 38 years, and in some cases, it may be more aggressive than sporadic PTC; up to 5% of subjects with NMTC have a family history positive for the same disorder. The etiologic gene(s) have not been identified, although positional cloning of these genes may be possible. The evidence for and characteristics of familial NMTC will be reviewed, and the clinical and research implications will be discussed. Semin. Surg. Oncol. 16:16–18, 1999. © 1999 Wiley‐Liss, Inc.

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Familial papillary carcinoma of the thyroid

Cited by 46 publications

References 10 publications

At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family

At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family

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

Familial nonmedullary thyroid carcinoma

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