Impact of pathognomonic genetic alterations on the prognosis of papillary thyroid carcinoma

Musholt, Thomas J.; Schönefeld, Sonja; Schwarz, Christina H.; Watzka, Felix; Musholt, Petra B.; Fottner, Christian; Weber, Matthias M.; Springer, Erik; Schad, Arno

doi:10.1007/s00423-010-0682-6

Cited by 23 publications

(30 citation statements)

References 27 publications

(36 reference statements)

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“…Furthermore, multiple previous studies have demonstrated a correlation between the BRAF (V600E) mutation and the high-risk clinicopathological characteristics of PTC, including older age at diagnosis, male gender, large tumor size, the presence of extrathyroidal extension, lymph node and distant metastasis and an advanced stage (9)(10)(11)13,15,16,(18)(19)(20)28,29). By contrast, certain studies were unable to identify marked associations between the BRAF (V600E) mutation and the high-risk clinicopathological characteristics of PTC (12,14).…”

Section: Discussionmentioning

confidence: 99%

“…Numerous studies have evaluated the association between the BRAF (V600E) mutation, clinicopathological features and clinical outcomes of PTC; however, controversial results have been obtained for a correlation between the BRAF (V600E) mutation and clinicopathological features (1,(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Furthermore, multiple previous studies have demonstrated a correlation between the BRAF (V600E) mutation and the high-risk clinicopathological characteristics of PTC, including older age at diagnosis, male gender, large tumor size, the presence of extrathyroidal extension, lymph node and distant metastasis and an advanced stage (9)(10)(11)13,15,16,(18)(19)(20)28,29).…”

Section: Discussionmentioning

confidence: 99%

“…Numerous studies have investigated potential associations among the BRAF (V600E) mutation, clinicopathological features of PTC and the clinical outcome of patients; however, correlations between the incidence of the BRAF (V600E) mutation and clinicopathological features in PTC patients remains controversial (1,(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20).…”

Section: Introductionmentioning

confidence: 99%

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Associations of the BRAF (V600E) mutation and p53 protein expression with clinicopathological features of papillary thyroid carcinomas patients

et al. 2015

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Abstract. The BRAF (V600E) mutation is the most prevalent type of genetic alteration that has been identified in papillary thyroid carcinoma (PTC); in addition, previous immunohistochemical studies have revealed the overexpression of p53 protein in PTC. The aim of the present study was to investigate the prevalence of the BRAF (V600E) mutation and the expression of p53 in PTC, as well as to determine any associations between these two factors and the clinicopathological features of PTC. The study was performed on 66 PTC patients who underwent surgical tumor resection between January and December 2012. Polymerase chain reaction-based DNA amplification was used to analyze extracted DNA from the tumor specimens in order to determine the prevalence of the BRAF (V600E) mutation. In addition, immunohistochemical analysis was employed in order to evaluate the protein expression of p53 in sections of tumor tissue. Furthermore, statistical analysis was performed in order to determine any associations among the BRAF (V600E) mutation prevalence, p53 overexpression and the clinicopathological features of PTC patients, including age, gender, tumor size, multiplicity, lymph node metastasis and extrathyroidal extension. The results revealed that the BRAF (V600E) mutation was observed in 50 (75.8%) of the 66 PTC patients and overexpression of p53 was found in 52 (78.8%) of 66 cases. No significant correlations were observed between the BRAF (V600E) mutation or p53 protein overexpression and the clinicopathological features of patients. However, the BRAF (V600E) mutation demonstrated noteworthy, but non-significant, correlations with the overexpression of p53 (P=0.0854) and extrathyroidal extension (P= 0.0661). In addition, a significant correlation was observed between lymph node metastasis and bilaterality (P=0.0280). In conclusion, the present study demonstrated that the BRAF (V600E) mutation and overexpression of p53 were not significantly correlated with clinicopathological features of PTC, although notable associations were identified between BRAF (V600E) mutation and overexpression of p53 as well as extrathyroidal extension. In addition, lymph node metastasis was significantly associated with bilaterality.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Associations of the BRAF (V600E) mutation and p53 protein expression with clinicopathological features of papillary thyroid carcinomas patients

et al. 2015

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“…RET functional deficiency results in Hirschsprung's disease; however, an increase in its activities is associated with numerous types of human cancer, including MTC (11,12). Concurrent RET/PTC and BRAF mutations have been reported in PTC (7,13). The BRAF V600E mutation, which is the sporadic form of these mutations, is restricted to papillary, anaplastic and poorly differentiated thyroid carcinoma (14,15).…”

Section: Introductionmentioning

confidence: 96%

Epigenetic modifications in human thyroid cancer

et al. 2014

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Thyroid carcinoma is the most common endocrine malignancy of the endocrine organs, and its incidence rate has steadily increased over the last decade. Over 95% of thyroid carcinoma is derived from follicular cells that have a spectrum of differentiation to the most invasive malignancy. The molecular pathogenesis of thyroid cancer remains to be clarified, although activating the and oncogenes have been well characterized. Increasing evidence from previous studies demonstrates that acquired epigenetic abnormalities participating with genetic alteration results in altered patterns of gene expression/function. Aberrant DNA methylation has been established in the CpG regions and microRNAs (miRNAs) expression profile recognized in cancer development. In the present review, a literature review was performed using MEDLINE and PubMed with the terms 'epigenetic patterns in thyroid cancer [or papillary thyroid carcinoma (PTC), follicular thyroid carcinoma (FTC), medullary thyroid cancer (MTC), anaplastic thyroid cancer (ATC)]', 'DNA methylation in thyroid cancer (or PTC, FTC, MTC, ATC)', 'miRNA expression in thyroid cancer (or PTC, FTC, MTC, ATC)', 'epigenetic patterns in cancer' and the current understanding of epigenetic patterns in thyroid cancer was discussed.

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“…B. die Analyse der für papilläre Schilddrüsenkarzinome typischen BRAF V600E-Mutation, tragen zu einer Verbesserung der Sensitivität der Untersuchungen bei und unterstüt-zen zusätzlich die Typisierung der Schilddrüsen-malignome [4]. Die bisher zur Verfügung stehenden Daten implizieren zudem eine prognostische Bedeutung der BRAF V600E-Mutation für papillä-re Schilddrüsenkarzinome [5,6]. Diese Erkenntnisse haben allerding noch keinen Einfluss auf die therapeutischen Empfehlungen.…”

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Schilddrüsenkarzinom – Individualisierte chirurgische Konzepte

Musholt

2012

Klinikarzt

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In der Bundesrepublik Deutschland werden etwa 5,3 Mio. Männer und 9,0 Mio. Frauen (gesamt etwa 14,3 Mio.) aufgrund einer Erkrankung der Schilddrüse ärztlich behandelt. Die Schilddrüsenoperation stellt einen der häufigs-ten viszeralchirurgischen Eingriffe dar [1]. Hierbei handelt es sich überwie-gend um Eingriffe bei benignen Erkrankungen der Schilddrüse während nur etwa 5000-10 000 Neuerkrankungen eines Schilddrüsenkarzinoms pro Jahr diagnostiziert werden.Bösartige Erkrankungen der Schilddrüse umfassen die als differenzierte Schilddrüsenkarzino-me zusammengefassten Gruppen der follikulä-ren und papillären Schilddrüsenkarzinome, die Gruppe der wenig differenzierten Schilddrüsen-karzinome (poorly differentiated thyroid carcinoma), welche erst 2004 durch die WHO als eigenständige Gruppe definiert wurde und von den anaplastischen/undifferenzierten Schilddrüsenkarzinomen mit meist infauster Prognose abgegrenzt werden muss, sowie schließlich die medullären Schilddrüsenkarzinome (C-Zellkarzinome) [2]. Seltener treten auch sekundäre bös-artige Neubildungen der Schilddrüse auf. Diese umfassen Hodgkin-und Non-Hodgkin-Lymphomerkrankungen mit zervikalem Befall sowie Metastasen anderer Malignome wobei überwie-gend Nierenzellkarzinomen (ca. 30-55 %), Lungenkarzinome (ca. 15 %), Mammakarzinome (ca. 15 %), Ösophaguskarzinome (ca 10%) und andere solide Primärtumoren (Haut, Uterus, Ovar, Speicheldrüsen, Nebenschilddrüsen) beschrieben werden. In der klinischen Routine kommt der frühzeiti-gen Erkennung einer möglicherweise malignen Erkrankung sowie der korrekten Bestimmung des Typs des Schilddrüsenkarzinoms eine entscheidende Bedeutung für die Planung der operativen Strategie zu. Dies wurde bereits in den aktuellen chirurgischen Leitlinien zur Therapie der gutartigen Schilddrüsenerkrankungen betont [3]. Das sehr unterschiedliche Wachstumsverhalten der verschiedenen malignen Schilddrüsenerkrankungen erfordert in Abhängigkeit

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Impact of pathognomonic genetic alterations on the prognosis of papillary thyroid carcinoma

Cited by 23 publications

References 27 publications

Associations of the BRAF (V600E) mutation and p53 protein expression with clinicopathological features of papillary thyroid carcinomas patients

Associations of the BRAF (V600E) mutation and p53 protein expression with clinicopathological features of papillary thyroid carcinomas patients

Epigenetic modifications in human thyroid cancer

Schilddrüsenkarzinom – Individualisierte chirurgische Konzepte

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