Publications by authors named "R Ciampi"
Context: The active surveillance (AS) program for papillary thyroid carcinoma (≤ 1 cm) at low-risk (mPTC) showed a low percentage of progression.
Objective: The aim of this study was to find a molecular signature of cases that showed disease progression during AS, which would allow their early identification.
Methods: We performed next generation sequencing of 95 fine needle aspiration cytology specimens from cases prospectively enrolled in the AS program to analyze key somatic driver alterations or gene fusions implicated in PTC tumorigenesis.
Purpose: Aims of this study were to investigate the prevalence of TP53 and TERT mutations in Medullary Thyroid carcinoma (MTC) and their role in inducing aggressiveness in positive cases.
Methods: We performed a literature search in PubMed to identify studies investigating the prevalence of TERT and TP53 mutations in MTC. We also included data on MTC cases (n = 193) obtained at our center and unpublished.
Background: Thyroid carcinoma (TC) is the most common endocrine cancer, with papillary thyroid carcinoma (PTC) being the most common subtype. BRAF and RAS oncogene were characterized as the most frequently altered genes in PTC, with a strong association between genotype and histotype. The most common mutation in BRAF gene is V600E and is prevalent in classic and aggressive variants of PTC, while BRAF K601E mutation is the most common among the other rare BRAF mutations.
View Article and Find Full Text PDFCirculating cell-free DNA (cfDNA) in patients with medullary thyroid carcinoma is characterized by specific fragmentation and methylation changes with diagnostic value.
Biomark Res
September 2023
Article Synopsis
- Medullary Thyroid Carcinoma (MTC) is a rare type of cancer that can be diagnosed by checking calcitonin levels, which may not be reliable indicators on their own.
- Researchers studied cell-free DNA (cfDNA) from MTC patients to examine DNA fragmentation and methylation changes as possible biomarkers for better diagnosis.
- They found significant differences in cfDNA fragmentation and methylation levels in patients at diagnosis compared to healthy individuals, suggesting these traits could improve MTC patient management.