Objectives: In recent years, BRAF(V600E) mutation has emerged as a promising prognostic marker for risk stratification of patients with papillary thyroid carcinoma (PTC). However, routine use of this marker has been questioned. In some parts of the world, particularly in Korea, the incidence of BRAF(V600E) mutation is too high to have true prognostic value. The relatively low number of tumors without BRAF(V600E) mutation would prejudice the efficient use of this marker in the Korean population.
Methods: The study involved 107 patients with histologically confirmed conventional PTC after surgical management for thyroid cancer from April 2010 to December 2010. BRAF(V600E) mutation analysis was performed by polymerase chain reaction (PCR)-based amplification of DNA extracted from paraffin-embedded tumor specimens, and the relationship between BRAF(V600E) mutation and various prognostic factors was investigated.
Results: BRAF(V600E) mutation was found to be present in 85 (79.4%) of 107 patients with conventional PTC. Analysis of the clinical characteristics as function of the presence or absence of BRAF(V600E) mutation revealed no differences between the BRAF(V600E)-positive and BRAF(V600E)-negative patients. Moreover, BRAF(V600E) mutation was not correlated with any of the prognostic factors including age ≥45 years, male gender, tumor size ≥1cm, multifocality, extra-thyroidal extension, concurrent Hashimoto's thyroiditis, and lymph node metastasis neither in the univariate nor in the multivariate analysis.
Conclusions: BRAF(V600E) mutation does not significantly reflect tumor aggressiveness in Korean patients with conventional PTC. We consider that BRAF(V600E) mutation does not possess prognostic value in Korea, where it is prevalent, and where most of the PTC types are conventional.
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http://dx.doi.org/10.1016/j.anl.2011.07.011 | DOI Listing |
Am J Pathol
December 2024
Massachusetts General Hospital Cancer Center, Krantz Family Center for Cancer Research, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. Electronic address:
Cholangiocarcinoma is an aggressive bile duct malignancy with heterogeneous genomic features. Although most patients receive standard-of-care chemotherapy/immunotherapy, genomic changes that can be targeted with established or emerging therapeutics are common. Accordingly, precision medicine strategies are transforming the next-line treatment for patient subsets.
View Article and Find Full Text PDFNeurosurg Rev
December 2024
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, No.119 South Fourth Ring West Road, Beijing, 100070, China.
Although craniopharyngiomas are rare benign brain tumors primarily managed by surgery, they are often burdened by a poor prognosis due to tumor recurrence and long-term morbidity. In recent years, BRAF-targeted therapy has been promising, showing potential as an adjuvant or neoadjuvant approach. Therefore, we aim to develop and validate a radiomics nomogram for preoperative prediction of BRAF mutation in craniopharyngiomas.
View Article and Find Full Text PDFCurr Oncol
December 2024
Department of Oncology, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
The incidence of melanoma, the most lethal form of skin cancer, has increased mainly due to ultraviolet exposure. The molecular characterization of melanomas has shown a high mutational burden led to the identification of some recurrent genetic alterations. gene is mutated in 40-50% of melanomas and its role in melanoma development is paramount.
View Article and Find Full Text PDFCancer Rep (Hoboken)
December 2024
Department of Hematology and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with diverse clinical manifestations, often associated with mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway. BRAF and KRAS mutations, which are driver mutations of oncogenes, participate in the same signaling pathway (MAPK/ERK pathway) and are usually mutually exclusive. We report a case of ECD with concurrent BRAF and KRAS mutations treated using BRAF and MEK inhibitors.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Division of Endocrinology, Mayo Clinic, Jacksonville, FL, United States.
Introduction: BRAFV600E mutation (BRAF) is common in papillary thyroid cancer (PTC), and most patients have an excellent outcome. However, a TERT-promoter mutation (pTERT) in the presence of BRAF (BRAFpTERT) has been demonstrated to confer a more aggressive behavior to PTC. Lymphocytic infiltration is often present in PTC.
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