Banca de QUALIFICAÇÃO: RAYSSA THAINNA SILVA LOPES

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : RAYSSA THAINNA SILVA LOPES
DATE: 17/09/2024
TIME: 09:00
LOCAL: Videoconferência - Link para acesso: https://meet.google.com/vhp- bdaj-iki
TITLE:

Impact of variant chromosomal translocations in NUT carcinomaand case report of the disease in Natal, Rio Grande do Norte, Brazil

KEY WORDS:

NUT carcinoma, variant genetic translocations, case report.

PAGES: 77
BIG AREA: Ciências Biológicas
AREA: Bioquímica
SUMMARY:

NUT carcinoma (NC) is a rare, rapidly progressing neoplasm characterized by the presence of a genetic translocation involving the NUTM1 gene and one of the following fusion partners: BRD4,BRD3, BRD2, NSD3, ZNF532, or ZNF592. Its diagnosis is made through assays identifying the NUTM1 protein in tumor tissue. Thisdisease affects both sexes across all age groups, with the primarytumor mainly located in the mediastinum. This study aimed to characterize the clinical impact of variant chromosomal translocations of NC as a strategy to enhance the understanding of the pathogenic mechanisms of each variant by correlating them with clinicaloutcomes described in the literature. Additionally, the study aimedto report a case of NC diagnosed in 2019 in Natal, Rio Grande do Norte, Brazil. A literature review using PubMed, ScienceDirect, andGoogle Scholar databases was conducted to study the variant genetic translocations, and the computational program String was used to visualize genes that correlate with NUTM1. The patient's medical records and imaging studies were used for clinical characterization of the case, and tumor tissue samples were used to ob-tain histological images and perform immunological techniques. Itwas observed that NUTM1 fusions with different partners form protein complexes that promote a similar pathogenic process. In general, non-thoracic cases have a better prognosis, but resistance to conventional therapies and the high toxicity of current treatments remain challenges. The unprecedented clinical case reported NC ina 28-year-old male, with a primary tumor in the nasal cavity andparavertebral metastasis. This patient underwent therapies inclu-ding surgical resection, chemotherapy, and radiotherapy, but the neoplasm continued to progress, and the patient died 21 months after diagnosis. Therefore, there is an urgent need for further studies to advance the understanding of the disease's pathogenesis, asa strategy for developing innovative therapies that positively impact patient survival.

COMMITTEE MEMBERS:
Presidente - 2195251 - HUGO ALEXANDRE DE OLIVEIRA ROCHA
Externa ao Programa - 2477216 - NAISANDRA BEZERRA DA SILVA FARIAS - nullExterno ao Programa - 2329140 - RAIMUNDO FERNANDES DE ARAUJO JUNIOR - null