Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid cancer

Thyroid cancer is predominantly (95%) formed by follicular cells that secrete thyroid hormone. The remainder develops from parafollicular, medullary cells that normally produce calcitonin. Mutations may be observers germline and somatic.

Systematic

Disorder of the thyroid hormon system
Hyperthyroidism
Hypothyroidism
Susceptibility to autoimmune thyroid disease
Thyroid cancer
Familial medullary thyroid cancer
NTRK1
RET
Non-medullary thyroid cancer
Familial follicular thyroid carcinoma
MINPP1
Follicular thyroid carcinoma
HRAS
NRAS
Hyperfunctioning thyroid adenoma
TSHR
Non-medullary thyroid cancer 2
SRGAP1
Non-medullary thyroid cancer 3
Non-medullary thyroid cancer 4
FOXE1
Non-medullary thyroid cancer 4
NKX2-1
Non-medullary thyroid cancer 5
HABP2
Thyroid carcinoma with thyrotoxicosis
TSHR
Thyroid hormone resistance

References:

1.

Klugbauer S et. al. (1999) The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas.

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2.

Loré F et. al. (2000) Unilateral renal agenesis in a family with medullary thyroid carcinoma.

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3.

Cote GJ et. al. (2003) Lessons learned from the management of a rare genetic cancer.

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4.

Farndon JR et. al. (1986) Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity.

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5.

Klugbauer S et. al. (1998) Detection of a novel type of RET rearrangement (PTC5) in thyroid carcinomas after Chernobyl and analysis of the involved RET-fused gene RFG5.

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6.

Nikiforova MN et. al. (2003) RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma.

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7.

Kroll TG et. al. (2000) PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected].

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8.

Dwight T et. al. (2003) Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors.

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9.

Gimm O et. al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.

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10.

Ngan ES et. al. (2009) A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.

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11.

Fortunati N et. al. (2004) Valproic acid induces the expression of the Na+/I- symporter and iodine uptake in poorly differentiated thyroid cancer cells.

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12.

Lairmore TC et. al. (1991) Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A.

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13.

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14.

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15.

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Maio M et. al. (2003) Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1.

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17.

Marsh DJ et. al. (2003) Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma.

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18.

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19.

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20.

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21.

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22.

Burgess JR et. al. (1997) Two families with an autosomal dominant inheritance pattern for papillary carcinoma of the thyroid.

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23.

Pierotti MA et. al. (1996) Cytogenetics and molecular genetics of carcinomas arising from thyroid epithelial follicular cells.

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24.

Bongarzone I et. al. (1997) Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas.

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25.

Learoyd DL et. al. (1998) RET/PTC and RET tyrosine kinase expression in adult papillary thyroid carcinomas.

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26.

Sugg SL et. al. (1998) Distinct multiple RET/PTC gene rearrangements in multifocal papillary thyroid neoplasia.

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27.

Canzian F et. al. (1998) A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.

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28.

Lesueur F et. al. (1999) Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium.

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29.

Trovato M et. al. (1999) Loss of heterozygosity of the long arm of chromosome 7 in follicular and anaplastic thyroid cancer, but not in papillary thyroid cancer.

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30.

Thomas GA et. al. (1999) High prevalence of RET/PTC rearrangements in Ukrainian and Belarussian post-Chernobyl thyroid papillary carcinomas: a strong correlation between RET/PTC3 and the solid-follicular variant.

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31.

Fenton CL et. al. (2000) The ret/PTC mutations are common in sporadic papillary thyroid carcinoma of children and young adults.

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32.

Chua EL et. al. (2000) Prevalence and distribution of ret/ptc 1, 2, and 3 in papillary thyroid carcinoma in New Caledonia and Australia.

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33.

Corvi R et. al. (2000) RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma.

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34.

Klein M et. al. (2001) Increased expression of the vascular endothelial growth factor is a pejorative prognosis marker in papillary thyroid carcinoma.

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35.

Hrafnkelsson J et. al. (2001) Familial non-medullary thyroid cancer in Iceland.

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36.

Elisei R et. al. (2001) RET/PTC rearrangements in thyroid nodules: studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults.

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37.

Kitamura Y et. al. (2001) Allelotyping of follicular thyroid carcinoma: frequent allelic losses in chromosome arms 7q, 11p, and 22q.

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38.

Mechler C et. al. (2001) Papillary thyroid carcinoma: 6 cases from 2 families with associated lymphocytic thyroiditis harbouring RET/PTC rearrangements.

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39.

Savagner F et. al. (2002) Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients.

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40.

Carlomagno F et. al. (2002) The kinase inhibitor PP1 blocks tumorigenesis induced by RET oncogenes.

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41.

Finn SP et. al. (2003) Ret/PTC chimeric transcripts in an Irish cohort of sporadic papillary thyroid carcinoma.

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42.

Baudin E et. al. (2003) Positive predictive value of serum thyroglobulin levels, measured during the first year of follow-up after thyroid hormone withdrawal, in thyroid cancer patients.

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43.

Kimura ET et. al. (2003) High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma.

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44.

Carlomagno F et. al. (2003) Efficient inhibition of RET/papillary thyroid carcinoma oncogenic kinases by 4-amino-5-(4-chloro-phenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine (PP2).

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45.

Namba H et. al. (2003) Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers.

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46.

Xing M et. al. (2004) Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer.

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47.

Weber F et. al. (2005) Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis.

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48.

Ciampi R et. al. (2005) Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.

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49.

Wagner K et. al. (2005) Thyrotropin receptor/thyroglobulin messenger ribonucleic acid in peripheral blood and fine-needle aspiration cytology: diagnostic synergy for detecting thyroid cancer.

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50.

Sarquis MS et. al. (2006) High frequency of loss of heterozygosity in imprinted, compared with nonimprinted, genomic regions in follicular thyroid carcinomas and atypical adenomas.

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51.

García-Rostán G et. al. (2005) Mutation of the PIK3CA gene in anaplastic thyroid cancer.

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52.

Zhu Z et. al. (2006) Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity.

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53.

Frau DV et. al. (2008) Trisomy 17 as a marker for a subset of noninvasive thyroid nodules with focal features of papillary carcinoma: cytogenetic and molecular analysis of 62 cases and correlation with histological findings.

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54.

Abubaker J et. al. (2008) Clinicopathological analysis of papillary thyroid cancer with PIK3CA alterations in a Middle Eastern population.

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55.

Liu Z et. al. (2008) Highly prevalent genetic alterations in receptor tyrosine kinases and phosphatidylinositol 3-kinase/akt and mitogen-activated protein kinase pathways in anaplastic and follicular thyroid cancers.

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56.

Gudmundsson J et. al. (2009) Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.

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57.

Vriens MR et. al. (2009) Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer.

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58.

Takahashi M et. al. (2010) The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.

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59.

Bonora E et. al. (2010) Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.

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60.

Jendrzejewski J et. al. (2012) The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type.

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Update: Sept. 26, 2018