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1.
Pituitary ; 24(5): 746-753, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33954928

RESUMO

PURPOSE: RAS genes are among the most frequently mutated genes in cancer, where their mutation frequency varies according to the distinct RAS isoforms and tumour types. Despite occurring more prevalent in malignant tumours, RAS mutations were also observed in few benign tumours. Pituitary adenomas are examples of benign tumours which vary in size and aggressiveness. The present study was performed to investigate, via liquid biopsy and tissue analysis, the presence of K-RAS mutations in a pituitary macroadenoma. METHODS: Molecular analysis was performed to investigate K-RAS mutations using the droplet digital PCR (ddPCR) method by evaluating both plasma (liquid biopsy) and the solid tumour of a patient diagnosed with a giant clinically non-functioning pituitary tumour. RESULTS: The patient underwent surgical resection due to visual loss, and the histopathological analysis showed a gonadotrophic pituitary macroadenoma. The molecular analysis revealed the presence of mutant K-RAS both in the plasma and in the tumour tissue which, to our knowledge, has not been previously reported in the literature. CONCLUSION: Our findings highlight the exceptional capacity of the digital PCR in detecting low frequency mutations (below 1%), since we detected, for the first time, K-RAS mutations in pituitary macroadenoma. The potential impact of K-RAS mutations in these tumours should be further investigated.


Assuntos
Adenoma , Neoplasias Hipofisárias , Proteínas Proto-Oncogênicas p21(ras) , Adenoma/genética , Genes ras , Humanos , Mutação/genética , Neoplasias Hipofisárias/genética , Reação em Cadeia da Polimerase , Proteínas Proto-Oncogênicas p21(ras)/genética
2.
Arq. bras. neurocir ; 37(3): 182-189, 2018.
Artigo em Inglês | LILACS | ID: biblio-1362891

RESUMO

The dissemination of specialty hospitals throughout the urban centers has revolutionized the full spectrum of care for cardiology, oncology and orthopedics during the last decades. To centralize care, from translational and basic research to clinicians and surgeons, in the same dedicated institution leads to a decrease in complications rates, mortality and possible reductions in the length of hospital stays. Moreover, there has been a significant impact on hospital costs and on the quality of care. The Insituto Estadual do Cérebro Paulo Niemeyer (IECPN, in the Portuguese acronym) was opened in June 2013 in Rio de Janeiro, Brazil. It is the very first high-volume neurosurgical institution in the country. The core foundation of this institution is that the anesthesiologists, intensive care practitioners, nurses, pathologists, radiologists and rehabilitation staffs are trained and live the full management of neurosurgical lesions at the same facility on a daily basis. The present paper seeks to analyze the circumstances in which the institution was planned and opened as well as its complexity, infrastructure and initial results following its first 24 months of operation.


Assuntos
Humanos , História do Século XXI , Estrutura dos Serviços , Capacitação de Recursos Humanos em Saúde , Hospitais Públicos/organização & administração , Hospitais Especializados/organização & administração , Neurocirurgia/estatística & dados numéricos , Brasil , Laboratórios Hospitalares , Serviço Hospitalar de Emergência , Programas de Pós-Graduação em Saúde , Hospitais Especializados/história , Unidades de Terapia Intensiva
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