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  • 1
    Keywords: RISK ; OVARIAN-CANCER ; BRCA2 MUTATIONS ; SINGLE-NUCLEOTIDE POLYMORPHISMS ; ALLELES ; LOCI ; GENOME-WIDE ASSOCIATION ; CONFER SUSCEPTIBILITY ; COMMON VARIANTS ; IDENTIFIES 2
    Abstract: Background: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. Methods: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. Results: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval 1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. Conclusion: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.
    Type of Publication: Journal article published
    PubMed ID: 24548884
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  • 2
    Keywords: RISK ; VARIANTS ; METAANALYSIS ; ALLELES ; LOCI ; GENOME-WIDE ASSOCIATION ; CONFER SUSCEPTIBILITY ; IDENTIFIES 2 ; 5P12
    Abstract: Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46,450 cases and 42,600 controls) and analysed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 (rs1053338, per-allele OR=1.07, 95%CI=1.04-1.10, P=2.9x10-6), AKAP9-M463I at 7q21 (rs6964587, OR=1.05, 95%CI=1.03-1.07, P=1.7x10-6) and NEK10-L513S at 3p24 (rs10510592, OR=1.10, 95%CI=1.07-1.12, P=5.1x10-17). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine GWAS: for ATXN7-K264R, OR=1.07 (95%CI=1.05-1.10, P=1.0x10-8); for AKAP9-M463I, OR=1.05 (95%CI=1.04-1.07, P=2.0x10-10). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known genome-wide association study (GWAS) hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.
    Type of Publication: Journal article published
    PubMed ID: 24943594
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Child ; Inflammatory pseudotumour ; Malignant fibrous histiocytoma ; Pulmonary neoplasms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 12-year-old patient with a primary pulmonary mass in the left upper lung. The diagnosis of inflammatory pseudotumour was suspected preoperatively. After pathological examination and complete clinical evaluation, a diagnosis of malignant primary pulmonary fibrous histiocytoma was established. This is a very uncommon primary neoplasm of the lung and to our knoweledge only five paediatric cases have been reported. Because of the rarity of these sarcomas and histological similarities to benign inflammatory pseudotumour, care must be taken to avoid confusion between the two disorders particularly in intra-operative frozen sections. Conclusion Primary malignant fibrous histiocytoma of the lung is an uncommon tumour that should be considered in the differential diagnosis of pulmonary neoplasms of childhood. The histological diagnosis can be difficult due to the similarities with␣inflammatory pseudotumour.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1434-4726
    Keywords: Key words Larynx ; Hypopharynx ; Metastases ; Sarcomatoid carcinoma ; Spindle cell carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 63-year-old man presented a polypoid tumor in the laryngeal space involving the right pyriform fossa. The patient underwent a total laryngectomy with bilateral functional neck dissection, and the diagnosis of sarcomatoid carcinoma with malignant fibrous histiocytoma-like stroma was established. The tumor showed an uncommon behavior, with distant metastases to the brain and to the subcutaneous tissue of the abdominal wall. The patient died 1 year after the development of the metastases. Despite its polypoid pattern of growth, sarcomatoid carcinoma of the larynx may behave very aggressively. It is important for clinicians to be aware of the possibility of distant subcutaneous and brain metastases in sarcomatoid tumors of the laryngeal space. If such metastases develop, the prognosis is ominous, with an average life expectancy of 3 months.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A 15-year-old boy with the characteristic features of the naevoid basal cell carcinoma syndrome presented with a retroperitoneal mass. The tumour showed morphological features of a still ill-defined variant of fetal rhabdomyoma, characterized by well-differentiated nerve fibres admixed with immature striated muscle cells, similar to neuromuscular choristoma. Four cases of fetal rhabdomyoma and naevoid basal cell carcinoma syndrome have been previously reported. The behaviour of this tumour has been benign, although a complete excision was impossible due to its close relation with abdominal vascular trunks.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: To describe a case of rhabdomyomatosis of the lung unassociated with other external or visceral malformations in a newborn infant.〈section xml:id="abs1-2"〉〈title type="main"〉Methods and results:A 26 weeks' gestation newborn male with no relevant medical or family history presented a well-circumscribed solid area in the posterior mediastinum occupying the upper lobe of the right lung. The possibility of neuroblastoma or an extralobar pulmonary sequestration were excluded after laboratory and arteriographic studies. No visceral anomalies were found. At the age of 9 months the patient underwent a partial lobectomy, and he is free of disease 39 months after surgery. Histological examination demonstrated the presence of numerous bundles of striated fibres arranged haphazardly in the pulmonary interstitium in a background of a type-II congenital cystic adenomatoid malformation-like morphology of the resected lung.〈section xml:id="abs1-3"〉〈title type="main"〉Conclusion:The presence of striated muscle fibres in the lung not necessarily represents a lethal congenital malformation. As this case shows, rhabdomyomatosis of the lung can affect a single pulmonary lobe, and resection of the affected lung parenchyma may be curative. It is important for pathologists to be aware of this entity, although it is exceptional, and to include it in the differential diagnosis of pulmonary masses in the newborn lung.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1365-2303
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Carcinoma with osteoclast-like giant cells (OCGC) is an uncommon neoplasm characterized by giant cells, prominent vascularization, haemorrhage and areas of cribriform epithelial growth with moderate atypia. Multinucleated giant cells (MGC) have been described in several other breast lesions raising an interesting differential diagnosis, mainly with benign disorders. Due to its rarity few cases have been described cytologically. We retrospectively reviewed 13 fine needle aspiration samples from nine patients with this variant of carcinoma. Nine corresponded to breast tumours and four to axillary, liver, subcutaneous and mediastinal metastatic lesions. The expression of CD68 by giant cells was evaluated immunocytochemically in six cases. All patients had a complete pathological study of the breast neoplasm. Smears showed a double component of epithelial and giant cells. Epithelial clusters were predominantly of intermediate size with irregular contours. Most were cohesive but others showed cellular dissociation with scarce to moderate cellular pleomorphism. Giant cells had well defined, deeply stained cytoplasm and round to elongated morphology. Two metastatic cases were devoid of them. Haemosiderin-laden macrophages were common in smears from breast tumours. In the six cases tested CD68 was expressed in MGC. Cytological features of mammary carcinoma with OCGC correlate closely with the histological ones. Most cases are clearly recognizable as malignant but in others cytological atypia may be minimal, mimicking a benign lesion. In difficult cases the presence of haemosiderin-laden macrophages and the histiocytic nature of the MGC are helpful diagnostic features.
    Type of Medium: Electronic Resource
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  • 8
    Publication Date: 2018-09-08
    Description: Background/Aim: Predicting response to treatment in high-grade serous ovarian carcinoma (HGSOC) still remains a clinical challenge. The standard-of-care for first-line chemotherapy, based on a combination of carboplatin and paclitaxel, achieves a high response rate. However, the development of drug resistance is one of the major limitations to efficacy. Therefore, identification of biomarkers able to predict response to chemotherapy in patients with HGSOC is a critical step for prognosis and treatment of the disease. Several studies suggest that angiogenesis is an important process in the development of ovarian carcinoma and chemoresistance. The aim of this study was to identify a profile of angiogenesis-related genes as a biomarker for response to first-line chemotherapy in HGSOC. Materials and Methods: Formalin-fixed paraffin-embedded samples from 39 patients with HGSOC who underwent surgical cytoreduction and received a first-line chemotherapy with carboplatin and paclitaxel were included in this study. Expression levels of 82 angiogenesis-related genes were measured by quantitative real-time polymerase chain reaction using TaqMan low-density arrays. Results: Univariate analysis identified five genes [angiopoietin 1 (ANGPT1), aryl hydrocarbon receptor nuclear translocator (ARNT), CD34, epidermal growth factor (EGF) and matrix metallopeptidase 3 (MMP3)] as being statistically associated with response to treatment. Multivariable analysis by Lasso-penalized Cox regression generated a model with the combined expression of seven genes [angiotensinogen (AGT), CD34, EGF, erythropoietin receptor (EPOR), interleukin 8 (IL8), MMP3 and MMP7)]. The area under the receiver operating characteristics curve (0.679) and cross-validated Kaplan–Meier survival curves were used to estimate the accuracy of these predictors. Conclusion: An angiogenesis-related gene expression profile useful for response prediction in HGSOC was identified, supporting the important role of angiogenesis in HGSOC.
    Print ISSN: 0250-7005
    Electronic ISSN: 1791-7530
    Topics: Medicine
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