Familial Nonmedullary Thyroid Cancer

Grossman, Richard F.; Tu, Shih Hsin; Duh, Quan Yang; Siperstein, Allan; Novosolov, Faina; Clark, Orlo H.

doi:10.1001/archsurg.1995.01430080094015

Cited by 153 publications

(74 citation statements)

References 30 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: Discussionsupporting

confidence: 72%

“…However, two findings may suggest the opposite in our study: the significantly higher presence of tumour multifocality in the subgroup of familial PTC with index cases and the trend to higher occurrence of extrathyroidal extension in the subgroup of familial PTC with three or more affected elements, where accurate diagnosis is more easily demonstrated. It is well known about the association of these adverse pathological characteristics with disease aggressiveness, the former often being documented in familial PTC (16,19,20). The same holds true to the higher incidence of vascular invasion and bilateral tumour growth found in this group, as compared with sporadic PTC, although without reaching statistical significance.…”

Section: Discussionmentioning

confidence: 85%

“…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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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 85%

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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“…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: 64%

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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“…(Grossman et al 1995, Loh 1997, Alsanea et al 2000, Uchino et al 2002, Lee et al 2014. However, others have reported no increase in disease aggressiveness compared with sporadic thyroid cancer (Loh 1997, Ito et al 2009, Robenshtok et al 2010, Pinto et al 2014.…”

Section: Introductionmentioning

confidence: 99%

Familial non-medullary thyroid cancer: unraveling the genetic maze

Yang¹,

Ngeow²

2016

Endocrine-Related Cancer

101

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Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. To date, 4 susceptibility genes have been identified (SRGAP1 gene (12q14), TITF-1/NKX2.1 gene (14q13), FOXE1 gene (9q22.33) and HABP2 gene (10q25.3)), out of which only the FOXE1 and the HABP2 genes have been validated by separate study groups. The causal genes located at the other 7 FNMTCassociated chromosomal loci (TCO (19q13.2), fPTC/ PRN (1q21), FTEN (8p23.1-p22), NMTC1 (2q21), MNG1 (14q32), 6q22, 8q24) have yet to be identified. Increasingly, gene regulatory mechanisms (miRNA and enhancer elements) are recognized to affect gene expression and FNMTC tumorigenesis. With newer sequencing technique, along with functional studies, there has been progress in the understanding of the genetic basis of FNMTC. In our review, we summarize the FNMTC studies to date and provide an update on the recently reported susceptibility genes including novel germline SEC23B variant in Cowden syndrome, SRGAP1 gene, FOXE1 gene and HABP2 genes in non-syndromic FNMTC.

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Familial Nonmedullary Thyroid Cancer

Abstract: Familial nonmedullary thyroid carcinoma has a high incidence of multifocality and invasion and a high rate of local recurrence. Aggressive initial treatment and careful follow-up seem to be indicated.

Cited by 153 publications

References 30 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

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

Familial non-medullary thyroid cancer: unraveling the genetic maze

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