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Nicht-medulläres Schilddrüsenkarzinom 1

Das hereditäre nicht-medulläres Schilddrüsenkarzinom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im NKX2-1-Gen ausgelöst wird.

Gliederung

Nicht-medulläres Schilddrüsenkarzinom
Autonomes Schilddrüsenadenom
Familiäres folliculäres Schilddrüsenkarzinom
Folliculäres Schilddrüsenkarzinom
Nicht-medulläres Schilddrüsenkarzinom 1
NKX2-1
Nicht-medulläres Schilddrüsenkarzinom 2
Nicht-medulläres Schilddrüsenkarzinom 3
Nicht-medulläres Schilddrüsenkarzinom 4
Nicht-medulläres Schilddrüsenkarzinom 5
Schilddrüsenkarzinom mit Thyreotoxikose

Referenzen:

1.

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

external link
2.

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.

external link
3.

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.

external link
4.

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).

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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.

external link
10.

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.

external link
11.

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

external link
12.

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

external link
13.

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.

external link
14.

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

external link
15.

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.

external link
16.

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.

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

Stoffer SS et al. (1986) Familial papillary carcinoma of the thyroid.

external link
22.

Lacour J et al. (1973) [Papillary epithelioma of the thyroid gland. Apropos of 2 familial cases].

external link
23.

Flannigan GM et al. (1983) Simultaneous presentation of papillary carcinoma of thyroid in a father and son.

external link
24.

Lote K et al. (1980) Familial occurrence of papillary thyroid carcinoma.

external link
25.

Phade VR et al. (1981) Familial papillary carcinoma of the thyroid.

external link
26.

Grossman RF et al. (1995) Familial nonmedullary thyroid cancer. An emerging entity that warrants aggressive treatment.

external link
27.

Harach HR et al. (1994) Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm.

external link
28.

Herrmann MA et al. (1991) Cytogenetic and molecular genetic studies of follicular and papillary thyroid cancers.

external link
29.

Jenkins RB et al. (1990) Frequent occurrence of cytogenetic abnormalities in sporadic nonmedullary thyroid carcinoma.

external link
30.

Perkel VS et al. (1988) Radiation-induced thyroid neoplasms: evidence for familial susceptibility factors.

external link
31.

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

external link
32.

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.

external link
33.

Pierotti MA et al. (1992) Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC.

external link
34.

Santoro M et al. (1992) Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype.

external link
35.

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.

external link
36.

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

external link
37.

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

external link
38.

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.

external link
39.

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

external link
40.

Bongarzone I et al. (1994) Frequent activation of ret protooncogene by fusion with a new activating gene in papillary thyroid carcinomas.

external link
41.

Takami H et al. (1996) Familial nonmedullary thyroid cancer: an emerging entity that warrants aggressive treatment.

external link
42.

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

external link
43.

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

external link
44.

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.

external link
45.

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

external link
46.

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

external link
47.

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

external link
48.

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.

external link
49.

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.

external link
50.

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.

external link
51.

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

external link
52.

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

external link
53.

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

external link
54.

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

external link
55.

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

external link
56.

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.

external link
57.

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

external link
58.

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

external link
59.

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

external link
60.

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

external link
61.

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Update: 14. August 2020
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