The early identification of aggressive forms of cancer is of high importance in treating papillary thyroid cancer (PTC). Disease dissemination is a major factor influencing patient survival. Mutation status of oncogene, V600E, is proposed to be an indicator of disease recurrence; however, its influence on PTC dissemination has not been deciphered. This study aimed to explore the association of the frequency of V600E alleles in PTC with disease dissemination. In this study, 173 PTC samples were analyzed, measuring the proportion of V600E alleles by qPCR, which was then normalized against the proportion of tumor cells. Semiquantitative analysis of BRAF V600E mutant protein was performed by immunohistochemistry. The V600E mutation was present in 60% of samples, while the normalized frequency of mutated alleles ranged from 1.55% to 92.06%. There was no significant association between the presence and/or proportion of the V600E mutation with the degree of PTC dissemination. However, the presence of the mutation was significantly linked with angioinvasion. This study's results suggest that there is a heterogeneous distribution of the mutation and the presence of oligoclonal forms of PTC. It is likely that the mutation alone does not significantly contribute to PTC aggressiveness.
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http://dx.doi.org/10.3390/biomedicines12030477 | DOI Listing |
J Pathol
February 2025
Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Colorectal cancer (CRC) is a histologically heterogeneous disease with variable clinical outcome. The role the tumour microenvironment (TME) plays in determining tumour progression is complex and not fully understood. To improve our understanding, it is critical that the TME is studied systematically within clinically annotated patient cohorts with long-term follow-up.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Medical Oncology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.
Background: For patients with refractory metastatic colorectal cancer (mCRC), trifluridine/tipiracil (FTD-TPI) has been associated with a significant improvement in overall survival (OS). However, data are lacking regarding the activity of FTD-TPI in patients with -mutated mCRC.
Methods: This retrospective, multicenter, international cohort included patients with -mutated mCRC treated with FTD-TPI in a real-life setting in Spain and Italy.
Pediatr Blood Cancer
January 2025
Department of Pediatrics. Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Programs allowing access to investigational drugs and off-label drug use for serious diseases have often been applied to pediatric cancers. A clinical study conducted under the Japanese "Patient-Proposed Healthcare Services" evaluated the efficacy and safety of dabrafenib plus trametinib in children with BRAF V600 mutant glioma (jRCTs071210071). This study successfully provided unapproved and off-label medications to four enrolled patients, two with low-grade glioma and two with high-grade glioma (median age: 10.
View Article and Find Full Text PDFMol Cancer Res
January 2024
University of Oxford, Oxford, United Kingdom.
BRAF mutations in colorectal cancer (CRC) comprise three functional classes: Class 1 (V600E) with strong constitutive activation, Class 2 with pathogenic kinase activity lower than Class 1, and Class 3 which paradoxically lacks kinase activity. Non-Class 1 mutations associate with better prognosis, microsatellite stability, distal tumour location and better anti-EGFR response. Analysis of 13 CRC cohorts (n=6,605 tumours) compared Class 1 (n=709, 10.
View Article and Find Full Text PDFInt J Biol Sci
January 2025
Department of Thyroid and Hernia Surgery, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou City, Fujian Province 350001, China.
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, and patients with the BRAF mutation often exhibit aggressive tumor behavior. Here, we identified Arylsulfatase I (ARSI) as a gene whose expression was significantly upregulated in BRAF PTC and was associated with poor prognosis. High ARSI expression correlated with advanced disease stage, BRAF mutation, and worse overall survival in PTC patients.
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