Pathogenesis of differentiated thyroid cancer (papillary and follicular)

Maciel, Rui M. B.; Kimura, Edna Teruko; Cerutti, Janete M.

doi:10.1590/s0004-27302005000500009

Cited by 7 publications

(5 citation statements)

References 43 publications

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“…This complementary information can supplement characterization of the clinical and pathologic features of the disease and may help provide a tailored approach with the goal of mitigating the risk of recurrence. 48,53,68,82 This mutation is specific for papillary and poorly differentiated and anaplastic thyroid carcinomas of epithelial derivation. 71 Since the first reports describing the BRAF mutation in melanoma, glioma, colorectal, ovarian, lung, and liver cancers and sarcoma cells, 8 numerous studies have been published correlating mutated BRAF with thyroid malignancy, and in particular PTC.…”

Section: Introductionmentioning

confidence: 99%

BRAF Mutation in Papillary Thyroid Cancer and Its Value in Tailoring Initial Treatment

et al. 2012

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Clinicians have long sought to characterize biological markers of neoplasia as objective indicators of tumor presence, pathogenicity, and prognosis. Armed with data that correlate biomarker activity with disease presence and progression, clinicians can develop treatment strategies that address risks of disease recurrence or persistence and progression. The B-type Raf kinase (BRAF V600E) mutation in exon 15 of the BRAF gene has been noted to be a putative prognostic marker of the most prevalent form of thyroid cancer, papillary thyroid cancer (PTC)--a tumor type with high proclivity for recurrence or persistence. There has been a remarkable interest in determining the association of BRAF mutation with PTC recurrence or persistence. Using many new studies that have been published recently, we performed a meta-analysis to investigate correlations of BRAF mutation status with PTC prognosis, focusing on the recurrence or persistence of the disease after initial treatment. The study was based on published studies included in the PubMed and Embase databases addressing the BRAF mutation and the frequency of recurrence of PTC. We selected studies with data that enabled measurement of the risk ratio for recurrent disease. We also analyzed the factors that are classically known to be associated with recurrence. These factors included lymph node metastasis, extrathyroidal extension, distant metastasis, and American Joint Committee on Cancer (AJCC) stages III/IV. We used 14 articles that included an analysis of these factors as well as PTC recurrence data, with a total of 2470 patients from 9 different countries. The overall prevalence of the BRAF mutation was 45%. The risk ratios in BRAF mutation-positive patients were 1.93 (95% confidence interval [CI], 1.61-2.32; Z = 7.01; p < 0.00001) for PTC recurrence, 1.32 (95% CI, 1.20-1.45; Z = 5.73; p < 0.00001) for lymph node metastasis, 1.71 (95% CI, 1.50-1.94; Z = 8.09; p < 0.00001) for extrathyroidal extension, 0.95 (95% CI, 0.63-1.44; Z = 0.23; p = 0.82) for distant metastasis, and 1.70 (95% CI, 1.45-1.99; Z = 6.46; p < 0.00001) for advanced stage AJCC III/IV. Thus, in this meta-analysis, the BRAF mutation in PTC was significantly associated with PTC recurrence, lymph node metastasis, extrathyroidal extension, and advanced stage AJCC III/IV. Patients with PTC harboring mutated BRAF are likely to demonstrate factors that are associated with an increased risk for recurrence of the disease, offering new prospects for optimizing and tailoring initial treatment strategies to prevent recurrence.

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Section: Introductionmentioning

confidence: 99%

BRAF Mutation in Papillary Thyroid Cancer and Its Value in Tailoring Initial Treatment

et al. 2012

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“…The robust study gathered here demonstrates the importance of NIBAN1 for cell stability and survival. However, there is much to understand about its broad functionality as well as its role in diagnosis ( Adachi et al, 2004 ; Cerutti et al, 2004 ; Maciel et al, 2005 ; Cerutti et al, 2006 ; Matsumoto et al, 2006 ; Sun et al, 2007 ; Ito et al, 2010 ; Cerutti 2011 ; Patel et al, 2011 ; Carvalheira et al, 2013 ) and therapeutic use ( Luo et al, 2017 ; Yim et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

“…This data suggests that NIBAN1 overexpression may be an important process in HNSCCs initiating carcinogenesis and maintenance of this tumor progression ( Ito et al, 2010 ). In thyroid cancer, increased NIBAN1 expression has been described in different tumors subtypes: microcarcinomas; papillary carcinomas; follicular carcinomas; metastases, and tumors with oxyphilic cytoplasm, such as Hürthle cell carcinoma, and some oxyphilic cells, originating from Hashimoto’s Thyroiditis ( Cerutti et al, 2004 ; Maciel et al, 2005 ; Cerutti et al, 2006 ; Matsumoto et al, 2006 ; Cerutti, 2011 ; Patel et al, 2011 ; Carvalheira et al, 2013 ; Carvalheira et al, 2015 ; Nozima et al, 2019 ). Due to the presence of NIBAN1 in many histological thyroid tumors, it has been suggested that this gene may be overexpressed from the early stage of carcinogenesis and remain expressed during neoplastic progression ( Matsumoto et al, 2006 ).…”

Section: Niban1 : Structure and Expressionmentioning

confidence: 99%

“…Many genes have been studied as biomarkers for various diseases and cancer. NIBAN1 is one of these gene, whose expression is unregulated in many cancer and diseases, such as renal cancer ( Majima et al, 2000 ; Adachi et al, 2004 ; Hino, 2004 ; Sun et al, 2007 ; Feng et al, 2019 ), lung cancer ( Ji et al, 2012 ; Zhang N. et al, 2019 ), head and neck carcinoma ( Ito et al, 2010 ), thyroid cancer ( Cerutti et al, 2004 ; Maciel et al, 2005 ; Cerutti et al, 2006 ; Matsumoto et al, 2006 ; Cerutti, 2011 ; Patel et al, 2011 ; Carvalheira et al, 2013 ; Carvalheira et al, 2015 ; Nozima et al, 2019 ), gynecologic cancers ( Yuki et al, 2015 ; Evstafieva et al, 2018 ; Salgado-Albarrán et al, 2019 ; Wang et al, 2020 ; Chen et al, 2021 ), prostate cancer ( Shaw et al, 2016 ; Thomas et al, 2016 ; Pällmann et al, 2019 ), brain cancer ( Miller et al, 2011 ; Qaisiya et al, 2017 ), bladder cancer ( Zhu et al, 2018 ; Jiang et al, 2020 ) and colorectal cancer ( Tan et al, 2021 ; Wang et al, 2021 ). The NIBAN1 expression has also been observed in some diseases such as, renal interstitial fibrosis ( Liu et al, 2014 ; Tang et al, 2019 ; Tang et al, 2021 ), in asthmatic patients treated with glucocorticoids ( Yick et al, 2013 ; Yick et al, 2014 ), arterial diseases ( Chen et al, 2019 ), vasomotor dysfunction ( Luo et al, 2017 ; Yim et al, 2020 ), liver diseases ( Kannangai et al, 2005 ), and pancreatic diseases ( Zhang K. et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

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NIBAN1, Exploring its Roles in Cell Survival Under Stress Context

Diana

Carvalheira

2022

Front. Cell Dev. Biol.

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Cell survival must quickly activate specific mechanisms that enable to detect changes in the cellular microenvironment. The impact of these cell alteration has direct consequences on cellular homeostasis. Cellular stress, as well as its regulation and implication, has been studied in different pathologies. In this sense, the alteration in NIBAN1 expression seems to act in response to different cellular disturbances. Over the years, the knowledge of NIBAN1 functions has improved, demonstrating its important cell roles, favoring the cell survival under stress context. In response to the disturbances, NIBAN1 seems to be involved in the decision-making process between cell survival and death. The increase in NIBAN1 expression has been related to cellular mechanisms that seek to minimize the damage caused to cellular homeostasis. In this review, the main biological insights attributed to the NIBAN1 gene in different cellular contexts and its role as a mediator of cellular stress are discussed.

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“…The authors have shown that allelic imbalance of the mutant RET allele and loss of the wild-type RET allele are associated with the genesis and/or progression of MEN 2-associated MTC [7–9] and PHEO [7]. Additionally, it has been stated that the incidence of MEN 2-related PHEO varies throughout different regions of the world, suggesting that the RET mutations are not the only determinants of onset age, and that it may be influenced by genetic or environmental modifying factors [10, 11].…”

Section: Introductionmentioning

confidence: 99%

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma

et al. 2019

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Background Different pathogenic germline mutations in the RET o ncogene are identified in MEN 2, a hereditary syndrome characterized by medullary thyroid carcinoma (MTC) and other endocrine tumors. Although genetic predisposition is recognized, not all RET mutation carriers will develop the disease during their lifetime or, likewise, RET mutation carriers belonging to the same family may present clinical heterogeneity. It has been suggested that a single germline mutation might not be sufficient for development of MEN 2-associated tumors and a somatic bi-allelic alteration might be required. Here we investigated the presence of somatic second hit mutation in the RET gene in MTC. Methods We integrated Multiplex Ligation-dependent Probe Amplification (MLPA) and whole exome sequencing (WES) to search for copy number alteration (CNA) in the RET gene in MTC samples and medullary thyroid cell lines (TT and MZ-CR-1). We next found reads spanning exon-exon boundaries on RET , an indicative of retrocopy. We subsequently searched for RET retrocopies in the human reference genome (GRCh37) and in the 1000 Genomes Project data, by looking for reads reporting joined exons in the RET locus or distinct genomic regions. To determine RET retrocopy specificity and recurrence, DNA isolated from sporadic and MEN 2-associated MTC ( n = 37), peripheral blood ( n = 3) and papillary thyroid carcinomas with RET fusion ( n = 10) samples were tested using PCR-sequencing methodology. Results Through MLPA we have found evidence of CNA in the RET gene in MTC samples and MTC cell lines. WES analysis reinforced the presence of the CNA and hinted for a retroposed copy of RET not found in the human reference genome and 1.000 Genomes Project. Extended analysis confirmed the presence of a somatic MTC-related retrocopy of RET in both sporadic and hereditary tumors. We further unveiled a recurrent (28%) novel point mutation (p.G548 V) found exclusively in the retrocopy of RET . The mutation was also found in cDNA of mutated samples, suggesting it might be functional. Conclusion We here report a somatic specific RET retroposed copy in MTC samples and cell lines. Our results support the idea that generation of retrocopies in somatic cells is likely to contribute to MTC genesis and progression. Electronic supplementary material The online version of this article (10.1186/s12920-019-0552-1) contains supplementary material, which is available to aut...

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Pathogenesis of differentiated thyroid cancer (papillary and follicular)

Cited by 7 publications

References 43 publications

BRAF Mutation in Papillary Thyroid Cancer and Its Value in Tailoring Initial Treatment

BRAF Mutation in Papillary Thyroid Cancer and Its Value in Tailoring Initial Treatment

NIBAN1, Exploring its Roles in Cell Survival Under Stress Context

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma

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