RESUMO
Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.
Assuntos
Síndromes Neoplásicas Hereditárias/diagnóstico por imagem , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/genética , Síndrome do Nevo Basocelular/diagnóstico por imagem , Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Carcinoma Epitelial do Ovário/diagnóstico por imagem , Carcinoma Epitelial do Ovário/genética , Carcinoma Epitelial do Ovário/patologia , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico por imagem , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , RNA Helicases DEAD-box/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/genética , Neoplasias Renais/patologia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Ovarianas/patologia , Síndrome de Peutz-Jeghers/diagnóstico por imagem , Síndrome de Peutz-Jeghers/genética , Síndrome de Peutz-Jeghers/patologia , Blastoma Pulmonar/diagnóstico por imagem , Blastoma Pulmonar/genética , Blastoma Pulmonar/patologia , Tumor Rabdoide/diagnóstico por imagem , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Ribonuclease III/genética , Doença de von Hippel-Lindau/diagnóstico por imagem , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/patologiaRESUMO
BACKGROUND: Use of general anaesthesia or deep sedation during magnetic resonance imaging (MRI) studies leads to pharyngeal muscle relaxation, often resulting in snoring and subsequent vibrations with head micromotion. Given that MRI is very susceptible to motion, this causes artifacts and image quality degradation. The purpose of our study was to determine the effectiveness of different airway management techniques in overcoming micromotion-induced MRI artifacts. METHODS: After obtaining institutional review board approval, we conducted a retrospective study on the image quality of central nervous system MRI studies in nine patients who had serial MRIs under general anaesthesia. All data were obtained from electronic records. We evaluated the following airway techniques: use of no airway device (NAD); oral, nasal, or supraglottic airway (SGA); or tracheal tube. To assess MRI quality, we developed a scoring system with a combined score ranging from 6 to 30. We used the linear mixed model to account for patient-dependent confounders. RESULTS: We assessed 85 MRI studies from nine patients: 48 NAD, 27 SGA, four oral, four nasal, and two tracheal tube. Arithmetical mean combined scores were 21.6, 27.6, 20.3, 15.3, and 29.5, respectively. The estimated mean combined scores for the NAD and SGA cohorts were 22.0 and 27.3, respectively, showing that SGA use improved the combined score by 5.3 (P<0.0001). CONCLUSIONS: The use of an SGA during MRI studies under general anaesthesia or deep sedation significantly improves image quality.
