Familial nonmedullary thyroid carcinoma

Malchoff, Carl D.; Malchoff, Diana M.

doi:10.1002/(sici)1098-2388(199901/02)16:1<16::aid-ssu4>3.0.co;2-7

Cited by 38 publications

(32 citation statements)

References 22 publications

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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%

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Familial thyroid cancer: a review

2011

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Section: -58mentioning

confidence: 99%

Section: -58mentioning

confidence: 99%

Familial thyroid cancer: a review

2011

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“…Não há um consenso com relação à punção de nódulos com tamanho inferior a 1 centímetro, pela dificuldade em coletar amostras adequadas para análise. Se a opção, nesses casos, for de observação, deve haver um acompanhamento rigoroso quanto ao seu crescimento, com punção se atingir 1 centímetro de tamanho (16). Outros autores recomendam a realização de tiroidectomia para todo paciente com nódulo tiroideano com história fortemente sugestiva de CTNMF, independentemente do resultado da punção aspirativa.…”

Section: Tratamentounclassified

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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“…Although the etiology of PTC is unclear, environmental factors, including radiation, diet, smoking and hormones, have been identified to affect the pathogenesis of thyroid cancer (3,4). Genetic predisposition has also been implicated as a risk factor for thyroid cancer development (5,6).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in bone morphogenetic protein 3 and the risk of papillary thyroid cancer

Kim¹,

Hong

Eun

et al. 2012

Oncology Letters

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Abstract. Bone morphogenetic proteins (BMPs) are members of the transforming growth factor beta (TGFβ) superfamily with well-described functions in bone formation. Although disrupted BMP signaling in tumor development has been investigated, a genetic association for BMP3 in papillary thyroid cancer (PTC) has remained largely unexplored. In this study, we investigated whether BMP3 single nucleotide polymorphisms (SNPs) are associated with the development of PTC and its clinicopathological features. A total of 103 PTC patients and 324 control subjects were enrolled. One promoter SNP (rs13138132; -1919C/A) and one missense mutation (rs3733549; Arg192Gln) in BMP3 were genotyped by direct sequencing. SNPStats, SNPAnalyzer, Helixtree and Haploview version 4.2 were used to evaluate the genetic data. Multiple logistic regression models were used to calculate odds ratios (ORs), 95% confidence intervals (CIs) and P-values. The missense SNP (rs3733549) was weakly associated with the development of PTC in a codominant model (AA vs. GG; P=0.017) and a recessive model (AA vs. GG/GA; P=0.023). Additionally, in an analysis according to clinicopathological features, rs13138132 was significantly associated with extrathyroidal invasion in a codominant model (CA vs. CC; P=0.006) and a dominant model (CA/AA vs. CC; P=0.0023). We also identified that the frequency of the A allele in the promoter SNP (rs13138132) was increased in PTC patients with extrathyroidal invasion (P=0.004). Our data suggest that rs3733549 in BMP3 is associated with the development of PTC and that the A allele of rs13138932 in BMP3 is a risk factor for extrathyroidal invasion. IntroductionThyroid cancer is the most common type of endocrine malignancy, accounting for approximately 1% of all cases of cancer. It is the most rapidly increasing cancer among females and the second most rapidly increasing cancer among males. Histologically, thyroid cancer is classified as papillary thyroid cancer (PTC), follicular thyroid cancer, medullary thyroid cancer or undifferentiated or anaplastic thyroid cancer. Of these, PTC is the most common type, and it accounts for 85-90% of all thyroid malignancies (1,2). Although the etiology of PTC is unclear, environmental factors, including radiation, diet, smoking and hormones, have been identified to affect the pathogenesis of thyroid cancer (3,4). Genetic predisposition has also been implicated as a risk factor for thyroid cancer development (5,6).Bone morphogenic proteins (BMPs) have been demonstrated to play an important role during development (particularly during bone formation) and in the regulation of various cellular processes, including cell proliferation, apoptosis and differentiation (7). Evidence suggests that BMPs are important in tumorigenesis (8-10). BMPs are members of the transforming growth factor beta (TGFβ) family; thus, BMPs utilize a similar signaling cascade to that of TGFβ. BMPs have been identified to utilize the SMAD signaling pathway for their growth suppressive effects, and also to affect PTEN and p21 (W...

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Familial nonmedullary thyroid carcinoma

Cited by 38 publications

References 22 publications

Familial thyroid cancer: a review

Familial thyroid cancer: a review

Carcinoma não medular familiar da tiróide

Polymorphisms in bone morphogenetic protein 3 and the risk of papillary thyroid cancer

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