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2 result(s) for "Rui M. Reis PhD"
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Promoter Mutations in Soft Tissue Sarcomas
Introduction Oncogenic hotspot mutations in the promoter region of the TERT gene have been identified in several cancer types as being associated with a worse outcome. Additionally, a polymorphism (rs2853669) in the TERT promoter region was reported to modify the survival of TERT -mutated patients. Our aim is to determine the frequency of c.-124 C>T and c.-146 C>T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes. Methods PCR was performed, followed by direct sequencing of a fragment of TERT containing the hotspots and the rs2853669. Results We found TERT mutations in 4/68 (5.9%) STSs including 1 pleomorphic liposarcoma (1/1), 1 dedifferentiated liposarcoma (1/1) and 2 myxoid liposarcomas (2/9). The variant C allele of rs2853669 was found in 54.8% (34/62) of all STSs and in 75% (3/4) of TERT -mutated cases. TERT mutations were associated with younger age, and the C allele of the rs2853669 was associated with high histological grade (2 and 3). No association was found between TERT mutation status or rs2853669 genotype and patient prognosis. Conclusions We showed that TERT promoter mutation is not a recurrent event in STS and is present in particular histological subtypes.
Teleconsultation for Delivering Low-Dose Computed Tomography Reports in a Mobile Lung Cancer Screening Program in a Low- and Middle-Income Country: A Cross-Sectional Study
Introduction Lung cancer is the leading cause of cancer-related death. Screening for lung cancer using low dose computed tomography (LDCT) significantly reduces lung cancer mortality. However, their implementations must be cost-effective while also prioritizing inclusivity and equity. In this context, telemedicine has emerged as a strategy to reduce costs and enhance access to specialized healthcare. This study aims to describe a Brazilian experience with teleconsultation for delivering LDCT reports, its impact on smoking cessation counseling, and the factors influencing participants’ enrollment in the Barretos Cancer Hospital Lung Cancer Screening Program (BCH-LCSP). Methods This cross-sectional analysis was conducted within the BCH-LCSP cohort and describes the teleconsultation process implemented as part of the program. Differences in sociodemographic characteristics between participants who received LDCT results through in-person consultations vs teleconsultations were examined using t-test or chi-square test. Results Of 793 enrolled participants, 747 (94.2%) received reports via teleconsultation and 46 (5.8%) in person. Teleconsultations were more likely to be used by females (53%). Of the 793 participants, 559 were current smokers. Among those 559, 152 participated in the smoking cessation intervention for at least 1 year, and 26 (17.1%) of them successfully quit smoking. Participants’ motivations to enroll in the LCS included prevention, smoking-related concerns, as well as general health concerns, and desire to quit smoking. Conclusion Teleconsultation shows potential as a practical approach for LDCT delivery and smoking cessation counseling in Brazil, providing a scalable model that could improve access and equity in lung cancer screening programs in low and middle-income countries and globally.