BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide symporter genes in papillary thyroid cancer

Romei, Cristina; Ciampi, Raffaele; Faviana, Pinuccia; Agate, Laura; Molinaro, Eleonora; Bottici, Valeria; Basolo, Fulvio; Miccoli, Paolo; Pacini, Furio; Pinchera, Aldo; Elisei, Rossella

doi:10.1677/erc-07-0130

Cited by 143 publications

(97 citation statements)

References 38 publications

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“…Additionally, the BRAF mutation occurs most commonly in aggressive subtypes of PTC [178,201]. Loss of NIS and TPO are early markers of dedifferentiation and they are also responsible for poor prognosis in BRAF positive PTCs [202]. According to these results, the BRAF mutation is a potential independent prognostic molecular marker for PTC.…”

Section: Molecular Targets In Histopathological Diagnosis and Classifmentioning

confidence: 96%

An update on molecular biology of thyroid cancers

Ömür

Baran

2014

Critical Reviews in Oncology/Hematology

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Section: Molecular Targets In Histopathological Diagnosis and Classifmentioning

confidence: 96%

An update on molecular biology of thyroid cancers

Ömür

Baran

2014

Critical Reviews in Oncology/Hematology

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“…Although the BRAF mutation and RET/PTC rearrangements were generally found to be associated with carcinomas in these studies, the PAX8-PPARγ rearrangement was also detected in follicular adenoma cases. A summary of literature analysis relating to genetic studies in thyroid lesions is shown in Table 3 (2,10 (53,54). The coexistence of the BRAF V600E mutation and RET/PTC rearrangement was not detected in any subject in our study.…”

Section: Discussionmentioning

confidence: 62%

BRAFV600E Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review

Şahpaz¹,

Önal²,

Yeşilyurt³

et al. 2015

Balkan Med J

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Background: Thyroid cancers are the most frequently occurring endocrine malignancy worldwide. In Turkey, thyroid cancers are ranked 2 nd on the incidence list in women, with a rate of 16.2%, but they are not included among the top 10 cancer types in men. Aims: To identify the contribution of the BRAF V600E mutation, and the RET/PTC1 and PAX8-PPARγ rearrangements in the diagnosis and differential diagnosis of follicular epithelial-derived thyroid lesions. Study Design: Retrospective clinical and molecular genetic study. Methods: A total of 86 thyroid cases diagnosed between 2001 and 2012 at the Department of Pathology were included in the retrospective study group. Samples best representing the lesion and comprising capsules were chosen in the selection of paraffin blocks pertaining to the cases. The BRAF V600E mutation, and the RET/PTC1 and PAX8-PPARγ rearrangements were investigated in all cases. Results: The BRAF V600E mutation was observed in 12 out of 37 papillary carcinoma cases (32.4%), in 1 out of 15 follicular carcinoma cases (6.6%), and in 1 out of 7 undifferentiated carcinoma cases (14.3%). No mutation was detected in benign lesions. The RET/PTC1 rearrangement was detected in 2 out of 7 undifferentiated carcinoma cases (28.6%), and in 1 out of 15 follicular carcinoma cases (6.6%). No gene rearrangement was detected in benign lesions. The PAX8-PPARγ rearrangement was detected in 5 out of 15 follicular thyroid carcinoma cases (33.3%) and in 1 out of 15 follicular adenoma cases (6.6%). Conclusion:The BRAF V600E mutation and RET/PTC1 rearrangement were effective in distinguishing the follicular epithelium-derived benign and malignant lesions of the thyroid in the resection materials. The BRAF V600E mutation was rather specific to papillary carcinoma in the thyroid, and in cases where the BRAF V600E mutation was detected, multi-centricity, lymph node metastasis and capsular invasion findings were observed more frequently compared to cases in which no mutation was observed. The PAX8-PPARγ rearrangement was observed to be more effective in the differentiation of adenomas and carcinomas in follicular neoplasms of the thyroid, whereas the RET/PTC1 analysis contributed to the differential diagnosis of papillary carcinoma histogenesis at a frequency of 29% in undifferentiated thyroid carcinomas.

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“…The point mutation of BRAF is the most common genetic alternation and is present in approximately 45% of cases of PTC. Some of the other genetic alternations, such as the point mutation of RET/PTC3 rearrangement and the V600E mutation of the BRAF gene, suggest an aggressive phenotype and poor outcome in PTC patients (5,12,15). The BRAF mutation was even considered a predictor of recurrence in PTC patients with extra-thyroid invasion and lymph node metastasis (12).…”

Section: (95% Ci) P-value -------------------------------------------mentioning

confidence: 99%

Association of CFTR gene polymorphisms with papillary thyroid cancer

Yoon

et al. 2011

Oncology Letters

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Abstract. The incidence of thyroid cancer has been on the increase in a number of countries, and certain genetic factors associated with the increased incidence of the papillary thyroid cancer (PTC) have been identified. However, little is known about the effect of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, expressed in the thyroid. We hypothesized and investigated that CFTR single nucleotide polymorphisms (SNPs) may be associated with the risk and/or progression of PTC. A total of 105 PTC patients, confirmed by pathological tests, and 323 controls, without any thyroidal disease, were recruited. One promoter SNP (rs4148682) and one coding SNP (rs213950, Val470Met) in the CFTR gene were analyzed, using direct sequencing. The PTC patients were sub-grouped and compared by their clinical and pathological characteristics of PTC. The results showed that the association between SNPs in the CFTR gene and the development of PTC was statistically insignificant. However, in the clinical and pathological features, rs4148682 was found to be correlated with multifocal tumors, location and cervical node metastasis of PTC. rs231950 was also correlated with multifocal tumors, location and nodal metastasis of PTC. The G allele of rs213950 was correlated with increased risk of multifocal tumors and bilateral lobe location. However, in cervical lymph node metastasis, the A allele of rs213950 was found to reflect high risk. Our study suggests that the CFTR gene polymorphisms studied may not be associated with the development of PTC, but that rs4148682 and rs213950 may be associated with clinical features and prognosis, such as multifocality, location of cancer and cervical lymph node metastasis of PTC.

show abstract

BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide symporter genes in papillary thyroid cancer

Cited by 143 publications

References 38 publications

An update on molecular biology of thyroid cancers

An update on molecular biology of thyroid cancers

BRAFV600E Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review

Association of CFTR gene polymorphisms with papillary thyroid cancer

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