Abstract:
AIMS:Next Generation Sequencing (NGS)-based BRCA tumour tissue testing poses several challenges. As a first step of its implementation within a regional health service network, an in-house validation study was compared with published recommendations. METHODS:Epithelial ovarian cancer (EOC) formalin-fixed paraffin-embedded specimens stored in the archives of the eight regional pathology units were selected from a consecutive series of patients with known BRCA germline status. Two expert pathologists evaluated tumour cell content for manual macrodissection. DNA extraction, library preparation and NGS analyses were performed blinded to the germinal status. Parameters used in the study were confronted with guidelines for the validation of NGS-based oncology panels and for BRCA tumour tissue testing. RESULTS:NGS analyses were successful in 66 of 67 EOC specimens, with good quality metrics and high reproducibility among different runs. In all, 19 BRCA pathogenic variants were identified: 12 were germline and 7 were somatic. A 100% concordance with blood tests was detected for germline variants. A BRCA1 variant showed a controversial classification. In different areas of two early stage EOCs showing somatic variants, intratumour heterogeneity not relevant for test results (variant allele frequency >5%) was observed. Compared with expert recommendations, main limitations of the study were absence of controls with known somatic BRCA status and exclusion from the validation of BRCA copy number variations (CNV). CONCLUSIONS:A close collaboration between pathology and genetics units provides advantages in the implementation of BRCA tumour tissue testing. The development of tools for designing and interpreting complex testing in-house validation could improve process quality.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Rivera D,Paudice M,Gismondi V,Anselmi G,Vellone VG,Varesco L,Ligurian BRCA Working Group.doi
10.1136/jclinpath-2020-206840subject
Has Abstractpub_date
2020-09-07 00:00:00eissn
0021-9746issn
1472-4146pii
jclinpath-2020-206840pub_type
杂志文章abstract::The stability of the commonly used red cell radio labels chromium-51, indium-(111 or 113m), and technetium-99m, within intact red cells and stroma and their distribution within the cell were compared in undamaged and heat damaged red cells in relation to the clinical use of heat damaged cells in the assessment of sple...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.39.7.717
更新日期:1986-07-01 00:00:00
abstract::A case of an ovarian serous epithelial neoplasm of borderline type admixed with sarcomatous elements is reported. This combination seems to be extremely rare with only four cases previously reported. It may represent a type of collision tumour or the development of a sarcoma in a growth with borderline differentiation...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.3.263
更新日期:1992-03-01 00:00:00
abstract:AIMS:As part of the UK antimicrobial resistance strategy and action plan, the Public Health Laboratory Service (PHLS) is required to collect antibiotic susceptibility data so that resistance trends and patterns can be monitored. Most laboratories report urine Gram negative isolates, as "coliforms" according to morpholo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.55.7.524
更新日期:2002-07-01 00:00:00
abstract::Escherichia coli O157:H7 was isolated from a fatal case of haemorrhagic colitis with haemolytic uraemic syndrome and neurological symptoms. This strain induced diarrhoea and neurological symptoms including incoordination, ataxia, and convulsions in piglets after oral inoculation. Similar neurological signs were seen i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.41.10.1099
更新日期:1988-10-01 00:00:00
abstract:BACKGROUND:Mycosis fungoides (MF) is the most common skin lymphoid neoplasm. In initial stages, differential diagnosis of MF from other benign dermal lymphoid infiltrates (BDLI) may be impossible on morphological basis alone. In previous studies, only deletion of CD7 in MF proved to be of diagnostic help, but not the r...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jcp.2007.048553
更新日期:2008-02-01 00:00:00
abstract:AIM:The evaluation of allelic losses at the FHIT and the BRCA1 genes and at three other loci at the 17q region in a series of 34 sporadic breast cancer cases from Southern Brazil. METHODS:The samples were evaluated for loss of heterozygosity (LOH) at the FHIT and the BRCA1 genes and at three other microsatellite marke...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2003.013490
更新日期:2004-04-01 00:00:00
abstract::Hepatitis C virus (HCV) replication is reported in both tumour and non-tumour tissue in a case of hepatocellular carcinoma. Viral replication was established by showing the presence of minus strand HCV RNA by PCR amplification, after excluding residual reverse transcriptase activity of Taq polymerase. No minus strand ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.9.880
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:Hodgkin's lymphoma (HL) is characterised by an ineffective immune response that is predominantly mediated by CD4+ T-cells. AIMS:To analyse the expression of the key regulatory T-cell transcription factors (TFs) in the T-cells of HL involved tissues in order to assess the nature of the T(H) immune response i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2006.044222
更新日期:2007-10-01 00:00:00
abstract:AIMS:Marked thrombocytosis is uncommon in chronic myelogenous leukaemia (CML) but may be associated with mutation of JAK2 V617F, calreticulin (CALR) and/or phospho-STAT5 (p-STAT5) activation in other myeloproliferative neoplasms (MPNs), particularly essential thrombocythaemia (ET). We investigated the JAK2 V617F, CALR ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2015-203498
更新日期:2016-08-01 00:00:00
abstract::Veno-occlusive disease of the liver with clinical and pathological features similar to those of the condition occurring in the Caribbean is described in a young woman resident in Britain. The diagnosis was made from liver biopsies and hepatic venography and was confirmed at necropsy. Small amounts of pyrroliziding alk...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.9.788
更新日期:1976-09-01 00:00:00
abstract:AIMS:To investigate the relation between sarcoidosis and lymphoma. METHODS:The hospital notes of five patients with sarcoidosis and a lymphoproliferative disorder were reviewed. Histological material on which the diagnoses of sarcoidosis and lymphoma were made was re-analysed. RESULTS:Four of the five patients had we...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.3.208
更新日期:1996-03-01 00:00:00
abstract:BACKGROUND:Somatic mutations are important determinants of cancer behaviour and response to therapy. However, molecular testing in this context has a relatively low profile within the clinical community, despite publicity surrounding targeted therapies such as Herceptin. AIMS:As the testing process affects many stakeh...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2007.054510
更新日期:2008-06-01 00:00:00
abstract::During the last decade, a dramatic rise in the development and application of artificial intelligence (AI) tools for use in pathology services has occurred. This trend is often expected to continue and reshape the field of pathology in the coming years. The deployment of computational pathology and applications of AI ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2020-206908
更新日期:2020-08-06 00:00:00
abstract:AIMS:To determine whether the recommended methods for the handling of breast excision biopsy specimens from screening patients cause more laboratory work than those used for non-screening patients. METHODS:All breast excision biopsy specimens from 1990 were identified. Ninety one came from patients identified during t...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.6.521
更新日期:1992-06-01 00:00:00
abstract::Experiments are described with glass fibre filter paper and complete glass filters as fitted to high pre-vacuum autoclaves to determine whether organisms can grow or penetrate through the filters. A filter consisting of four layers of glass fibre paper fitted inside a sterilizer chamber for a year and used for 96 ster...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.16.3.259
更新日期:1963-05-01 00:00:00
abstract:OBJECTIVE:To compare the whole genomes sequencing (WGS) results in the 100K Genomes project with the results of routine molecular diagnostics in precision medicine. MATERIALS AND METHODS:We analysed 374 cancers including a high tumour mutational burden (TMB-high) subgroup, defined as >10 non-synonymous single nucleoti...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2020-206998
更新日期:2020-10-29 00:00:00
abstract::A method for accurately counting platelets is described using the Coulter counter model B fitted with a standard 100mu aperture tube. This enables the counter to be used for red and white cell as well as platelet counts using the same aperture tube. The method uses standard equipment except for a small inexpensive ele...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.20.5.777
更新日期:1967-09-01 00:00:00
abstract::A rapid and reproducible electrophoretic method for the separation and quantitation of haemoglobins on cellulose acetate is described. The accuracy of the method and its possible sources of error are discussed. The normal range for haemoglobin A(2) by this method is 1% to 3% of the total haemoglobin concentration. Blo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.18.6.790
更新日期:1965-11-01 00:00:00
abstract:BACKGROUND:Breast-conserving surgery currently focuses on improving margin clearance and excision volume, the main pathology report parameters for oncological and cosmetic outcomes. AIM:To quantitatively evaluate discrepancies in surgical and pathological estimates of breast specimen sizes, including the influence of ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jclinpath-2011-200392
更新日期:2012-03-01 00:00:00
abstract::Antral biopsy culture supernatants from 14 subjects with chronic gastritis, known to have IgA antibodies to the 120 kilodalton protein, showed positive recognition of this antigen in western blots against a cytotoxin positive strain of Helicobacter pylori but gave negative reactions with two cytotoxin negative strains...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.8.733
更新日期:1992-08-01 00:00:00
abstract::The results of an investigation show that there is no statistically significant excess of blood group A in cases of carcinoma of the oesophagus or in cases of benign prostatic hyperplasia. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.17.1.42
更新日期:1964-01-01 00:00:00
abstract::Muscle biopsy samples were analysed from five control subjects, four patients with mild to moderate fibre atrophy and four patients with severe atrophy. Patchy increase in lipid was noted with oil red O staining but there was no consistent association of lipid with selective fibre types. Ultrastructural studies demons...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.7.778
更新日期:1983-07-01 00:00:00
abstract:AIMS:To establish a three dimensional reconstruction of an invasive breast carcinoma using basic laboratory equipment to evaluate and characterise the spatial arrangement of the parenchymal cells of the breast. METHODS:One hundred and twenty eight sequential 4 microm sections (20 microm apart) of the tumour were stain...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2004.024794
更新日期:2005-09-01 00:00:00
abstract::A case of signet-ring cell lymphoma affecting bone marrow is reported. The tumour presented as multiple lytic lesions in the lumbosacral spine. A bone biopsy specimen showed the typical appearances of signet-ring cell lymphoma, and the cells stained positively with antiserum to CD20, though neither immunoglobulin ligh...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.2.184
更新日期:1994-02-01 00:00:00
abstract::The distribution and quantitative expression of HBcAg in relation to serum HBeAg and liver histology before and after a trial of interferon in 50 patients with chronic type B hepatitis were evaluated using polyclonal and monoclonal antibodies. In general, both antisera showed a similar pattern in terms of the distribu...
journal_title:Journal of clinical pathology
pub_type: 临床试验,杂志文章
doi:10.1136/jcp.44.1.21
更新日期:1991-01-01 00:00:00
abstract::Pseudomonas cepacia (Ps. multivorans) can become adapted to a 1 in 30 dilution of Savlon hospital concentrate in distilled water, and can multiply in it. The organism so adapted did not survive in Savlon of the same strength made with hard tap water (pH 7.2). This effect was due to the difference of pH between the two...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.24.8.708
更新日期:1971-11-01 00:00:00
abstract::A study of 260 patients with non-Hodgkin's lymphoma (NHL) who underwent bilateral bone marrow biopsy at initial diagnosis showed marrow disease in 99 (38%) cases. The highest incidence of disease (83%) was seen in small lymphocytic lymphoma (SLL) and the lowest (19%) in diffuse large cell lymphoma (DLCL). Among cases ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.8.630
更新日期:1990-08-01 00:00:00
abstract::Thirty two fire victims with smoke inhalation, with or without burns, and 26 control subjects had bronchoalveolar lavage performed. Cell yields and differential cell counts were assessed. All patients and controls were cigarette smokers. Patients with smoke inhalation (SI) injury generally showed higher total bronchoa...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.1.43
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:An increase in intraepithelial lymphocytes (IELs) is mandatory for the histological diagnosis of coeliac disease (CD). Currently, duodenal biopsies are used almost exclusively to establish the diagnosis, yet published work continues to cite an upper limit of 40 lymphocytes/100 epithelial cells, a figure deri...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.55.5.393
更新日期:2002-05-01 00:00:00
abstract::Colonising Campylobacter pyloridis were identified histologically in gastric biopsy specimens from 89% of 83 patients with non-ulcer dyspepsia and chronic gastritis, but not in 58 dyspeptic patients with normal mucosa. The presence and population density of organisms was associated with the presence of intraepithelial...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.39.8.863
更新日期:1986-08-01 00:00:00