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排序方式: 共有334条查询结果,搜索用时 31 毫秒
51.
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CJH Kramer L Lanjouw D Ruano A ter Elst G Santandrea N Solleveld-Westerink N Werner AH van der Hout CD de Kroon T van Wezel LPV Berger M Jalving J Wesseling VTHBM Smit GH de Bock CJ van Asperen MJE Mourits MPG Vreeswijk J Bart T Bosse 《The Journal of pathology》2024,262(2):137-146
The identification of causal BRCA1/2 pathogenic variants (PVs) in epithelial ovarian carcinoma (EOC) aids the selection of patients for genetic counselling and treatment decision-making. Current recommendations therefore stress sequencing of all EOCs, regardless of histotype. Although it is recognised that BRCA1/2 PVs cluster in high-grade serous ovarian carcinomas (HGSOC), this view is largely unsubstantiated by detailed analysis. Here, we aimed to analyse the results of BRCA1/2 tumour sequencing in a centrally revised, consecutive, prospective series including all EOC histotypes. Sequencing of n = 946 EOCs revealed BRCA1/2 PVs in 125 samples (13%), only eight of which were found in non-HGSOC histotypes. Specifically, BRCA1/2 PVs were identified in high-grade endometrioid (3/20; 15%), low-grade endometrioid (1/40; 2.5%), low-grade serous (3/67; 4.5%), and clear cell (1/64; 1.6%) EOCs. No PVs were identified in any mucinous ovarian carcinomas tested. By re-evaluation and using loss of heterozygosity and homologous recombination deficiency analyses, we then assessed: (1) whether the eight ‘anomalous’ cases were potentially histologically misclassified and (2) whether the identified variants were likely causal in carcinogenesis. The first ‘anomalous’ non-HGSOC with a BRCA1/2 PV proved to be a misdiagnosed HGSOC. Next, germline BRCA2 variants, found in two p53-abnormal high-grade endometrioid tumours, showed substantial evidence supporting causality. One additional, likely causal variant, found in a p53-wildtype low-grade serous ovarian carcinoma, was of somatic origin. The remaining cases showed retention of the BRCA1/2 wildtype allele, suggestive of non-causal secondary passenger variants. We conclude that likely causal BRCA1/2 variants are present in high-grade endometrioid tumours but are absent from the other EOC histotypes tested. Although the findings require validation, these results seem to justify a transition from universal to histotype-directed sequencing. Furthermore, in-depth functional analysis of tumours harbouring BRCA1/2 variants combined with detailed revision of cancer histotypes can serve as a model in other BRCA1/2-related cancers. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. 相似文献
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Teresi LM; Lufkin RB; Vinuela F; Dietrich RB; Wilson GH; Bentson JR; Hanafee WN 《Radiology》1987,164(3):811-816
The normal anatomy of the nasopharynx and floor of the middle cranial fossa was analyzed with magnetic resonance (MR) imaging. MR images from five healthy volunteers were correlated with whole-organ cryomicrotome sections from three cadavers. Anatomic connections exist between the paranasopharyngeal spaces and the surface structures of the skull base. These anatomic connections include the intimate relationship between the eustachian tube and the pharyngobasilar fascia, the attachment of the muscles of mastication and deglutition to the skull base, and vascular and nervous structures in the foramina. The inherent contrast between the soft tissues of the nasopharynx and related structures and the bone of the floor of the middle cranial fossa allowed excellent visualization of these anatomic connections. 相似文献
57.
Ryan M; Owens D; Kilbride B; Collins P; Johnson A; Tomkin GH 《QJM : monthly journal of the Association of Physicians》1998,91(6):411-415
The inflammatory process and autoimmunity in the form of antibodies to
oxidized LDL are important factors in the formation of the atherosclerotic
plaque. We examined the time relationship of oxidized lipoprotein
antibodies to the acute oxidative stress of myocardial infarction (MI). We
also examined the relationship of C-reactive protein, an index of
inflammation, and therefore of free radical production, to oxidized
low-density lipoprotein (LDL) antibodies. We examined five groups of
patients in a cross-sectional study: group 1, within 48 h of MI; group 2,
two days to 1 week; group 3, 1-4 weeks; group 4, 1-3 months; and group 5,
3-6 months post MI. Nine patients with high antibody levels were
re-examined 12 months after their first assessment. Malondialdehyde
(MDA)-LDL and MDA-HDL antibodies were determined by an ELISA method. The
highest MDA-LDL antibodies were found within 48 h of MI, but there was no
significant difference in MDA- HDL antibodies between the groups. When 9/10
patients with LDL antibodies greater than the mean of 2.7 were re-examined
1 year later, there was a significant decrease in the mean antibody levels
(5.2 +/- 1.7 vs. 3.2 +/- 0.6, p < 0.02). There was no correlation
between antibodies to MDA-LDL and antibodies to MDA-HDL. There was a
positive correlation between serum HDL cholesterol and antibodies to
MDA-LDL (r = 0.4, p < 0.02) and a positive correlation between serum
triglycerides and MDA-HDL antibodies (r = 0.39, p < 0.02). Acute MI
appears to be associated with significantly higher C-reactive protein and
antibodies to MDA-LDL, suggesting a possible acceleration of the
atherosclerotic process immediately prior to MI.
相似文献
58.
Complications of automatic implantable cardioverter defibrillators: radiographic, CT, and echocardiographic evaluation 总被引:1,自引:0,他引:1
Goodman LR; Almassi GH; Troup PJ; Gurney JW; Veseth-Rogers J; Chapman PD; Wetherbee JN 《Radiology》1989,170(2):447-452
Automatic implantable cardioverter defibrillators (AICDs) were studied in three groups: (a) Serial radiographs were reviewed in 51 clinic patients. Twenty of 96 (21%) AICD patches distorted with time. (b) Thirty-six postoperative computed tomographic (CT) scans of asymptomatic patients revealed that pericardial fluid collections were frequent during the month after surgery but rare beyond that. Echocardiography was insensitive for these collections. CT also demonstrated dense fibrosis around some distorted patches, months after surgery. (c) Five other patients with pericardial infection had distorted patches, and the four studied with CT had fluid beneath their patches. (d) A case of constrictive pericarditis had distorted patches but was not diagnosed with CT. The authors conclude that distorted patches may indicate postoperative complications and that CT is the imaging modality of choice. 相似文献
59.
M T Zagardo R J Castellani G H Zoarski S C Bauserman 《AJNR. American journal of neuroradiology》1997,18(5):903
MR images of granulomatous amebic encephalitis caused by leptomyxid amebae in an HIV-infected patient showed both heterogeneous and ring-enhancing hemorrhagic lesions. The brain was diffusely involved, including the brain stem, deep gray matter nuclei, and corticomedullary junction regions of all lobes. 相似文献
60.
Breast disease: dynamic spiral MR imaging 总被引:19,自引:0,他引:19