Abstract:
AIMS:The incidence of RAS/RAF/PI3KA and TP53 gene mutations in colorectal cancer (CRC) is well established. Less information, however, is available on other components of the CRC genomic landscape, which are potential CRC prognostic/predictive markers. METHODS:Following a previous validation study, ion-semiconductor next-generation sequencing (NGS) was employed to process 653 routine CRC samples by a multiplex PCR targeting 91 hotspot regions in 22 CRC significant genes. RESULTS:A total of 796 somatic mutations in 499 (76.4%) tumours were detected. Besides RAS/RAF/PI3KA and TP53, other 12 genes showed at least one mutation including FBXW7 (6%), PTEN (2.8%), SMAD4 (2.1%), EGFR (1.2%), CTNNB1 (1.1%), AKT1 (0.9%), STK11 (0.8%), ERBB2 (0.6%), ERBB4 (0.6%), ALK (0.2%), MAP2K1 (0.2%) and NOTCH1 (0.2%). CONCLUSIONS:In a routine diagnostic setting, NGS had the potential to generate robust and comprehensive genetic information also including less frequently mutated genes potentially relevant for prognostic assessments or for actionable treatments.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Malapelle U,Pisapia P,Sgariglia R,Vigliar E,Biglietto M,Carlomagno C,Giuffrè G,Bellevicine C,Troncone Gdoi
10.1136/jclinpath-2015-203403subject
Has Abstractpub_date
2016-09-01 00:00:00pages
767-71issue
9eissn
0021-9746issn
1472-4146pii
jclinpath-2015-203403journal_volume
69pub_type
杂志文章abstract::Antibodies against the group polysaccharide of group A streptococci were estimated by means of a haemagglutination reaction. In this reaction human erythrocytes of blood group O were sensitized with polysaccharide esterified with myristoylchloride. The optimal conditions of the reactions were determined by varying the...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.27.11.891
更新日期:1974-11-01 00:00:00
abstract::The role of active hepatitis B virus (HBV) infection in chronic HBsAg positive hepatitis with and without hepatitis delta virus (HDV) superinfection was analysed in percutaneous liver biopsy specimens from 50 patients. Each specimen was divided into two--one part for histological evaluation and for the detection of HB...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.42.7.689
更新日期:1989-07-01 00:00:00
abstract::Factor VII levels have been measured in 100 patients with liver disease following parenteral vitamin K1 therapy. There was good agreement between specific factor VII measurements and the one-stage prothrombin time apart from six patients with compensated cirrhosis in whom the prothrombin time was prolonged despite the...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.11.971
更新日期:1976-11-01 00:00:00
abstract::A study has been made of 523 strains of staphylococci on the basis of biological properties, phage typing, and serology. The value of serology in the identification of pathogenic staphylococci has been assessed. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.4.370
更新日期:1970-05-01 00:00:00
abstract:AIMS:Diffuse large B-cell lymphoma (DLBCL) is the most common type of aggressive non-Hodgkin's lymphoma that represents a heterogeneous group of disease that is differentially characterised by clinical, molecular and cytogenetic features. MYC, BCL2 and BCL6 gene rearrangements have been identified as prognostic factors...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2020-206767
更新日期:2020-09-10 00:00:00
abstract::Although the UK National Institute for Health and Care Excellence guidelines recommend that in patients with biopsy-proven invasive lobular carcinoma (ILC), preoperative MRI scan is considered, the accuracy of diagnosis of ILC in core biopsy of the breast has not been previously investigated. Eleven pathology laborato...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jclinpath-2016-203886
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Squamous differentiation/squamous metaplasia is often associated with endometrial adenocarcinoma and benign lesions, such as endometrial hyperplasia and chronic endometritis. Morules have distinct histological characteristics, and are referred to as squamous metaplasia or squamoid metaplasia. AIM:To focus o...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2004.017996
更新日期:2004-09-01 00:00:00
abstract::Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2014-202612
更新日期:2015-03-01 00:00:00
abstract:AIMS:Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205570
更新日期:2019-03-01 00:00:00
abstract:AIMS:To evaluate a recently developed digital slide and virtual microscope system, and to compare this method with optical microscopy on routine gastrointestinal biopsy specimens in both local and remote access modes. METHODS:A fully computer controlled commercial microscope was used. The scanning program included obj...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.56.6.433
更新日期:2003-06-01 00:00:00
abstract::In patients with chronic renal failure, blood samples for laboratory analysis are often taken via dialysis catheters. This report describes a case of gross spurious hypernatraemia in a blood sample collected from a patient undergoing haemodialysis. After centrifugation of the blood sample in question, the separator ge...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2004.020495
更新日期:2004-12-01 00:00:00
abstract::Inhibition of streptolysin O activity by cholesterol depends on the latter being in free form. The normal esterified and protein-bound cholesterol fractions in serum do not influence streptolysin O activity. However, high cholesterol levels in rabbits fed cholesterol with cholic acid were associated with an increased ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.10.885
更新日期:1972-10-01 00:00:00
abstract:AIMS:To assess the possible role of hypoxia in the formation of axonal bulbs. METHODS:Study material comprised sections from 28 brains showing evidence of cerebral hypoxia with no history of head injury, four with a history of head trauma but no evidence of hypoxic change, eight with a history of head trauma and hypox...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.52.3.203
更新日期:1999-03-01 00:00:00
abstract::Tubercle bacilli, which survived heat fixation, were detected with a slide culture technique which allowed the entire smear to be examined. Both conventional flame fixation and the use of a controlled hot-plate failed to render tuberculous sputum smears safe for further handling. Smears which were stained with the ph...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.34.7.719
更新日期:1981-07-01 00:00:00
abstract::Serum glutamic oxalacetic transaminase (G-OT), glutamic-pyruvic transaminase (G-PT), and isocitric dehydrogenase (ICD) have been estimated in six groups of subjects, namely, normal British adults, normal Nigerian adults, undernourished Nigerian adults and children, Nigerian children with florid protein malnutrition (k...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.13.3.252
更新日期:1960-05-01 00:00:00
abstract::A method for the simultaneous labelling of terminal deoxynucleotidyl transferase (TdT) and membrane antigens is described. TdT is visualised in the cell nucleus with the peroxidase-antiperoxidase (PAP) method, and the immunogold method is used in combination with monoclonal antibodies against membrane antigens. The mo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.6.628
更新日期:1984-06-01 00:00:00
abstract:AIMS:To evaluate the effect of 10 day triple treatment on H pylori eradication and associated gastritis. METHODS:Fifty patients with H pylori positive non-ulcer dyspepsia were treated for 10 days with amoxicillin, tinidazole, and bismuth salts. Histological examination of the antral mucosa was performed before (T0), s...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.9.796
更新日期:1992-09-01 00:00:00
abstract::A 65-year-old woman with a history of a left heminephrectomy for renal carcinoma developed hypercalcaemia 11 years after the operation. The same kidney was found to contain a recurrent renal carcinoma. After the radical nephrectomy of the left kidney, hypercalcaemia remitted but reappeared 11 months later. The right k...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.32.3.234
更新日期:1979-03-01 00:00:00
abstract::Nasal biopsy findings in malignant histiocytosis presenting clinically as lethal midline granuloma are characterised by necrosis and infiltration of atypical histiocytic cells with a diffuse positive reaction for non-specific esterase. This cellular character was common to midline malignant reticulosis, and midline ma...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.35.6.599
更新日期:1982-06-01 00:00:00
abstract:AIMS:Cervical cytology biobanking is a feasible concept in cervical pathology and could be an indispensable tool for fundamental and applied molecular biological research. PCR is a powerful molecular technique that can be performed on a variety of cervical sample types including Pap-stained cervical smears. However, si...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2007.052688
更新日期:2008-05-01 00:00:00
abstract:AIMS:To develop a rapid, sensitive, and safe method for the analysis of von Willebrand factor (vWf) multimers in plasma or platelet lysates. METHOD:Analysis of vWf multimers was carried out by sodium dodecyl sulphate-agarose discontinuous gel electrophoresis followed by protein transfer to nitrocellulose membranes by ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.46.5.470
更新日期:1993-05-01 00:00:00
abstract:AIMS:Multiple myeloma (MM) is a heterogeneous disease characterised by genetically complex abnormalities. The classical mutational spectrum includes recurrent chromosomal aberrations and gene-level mutations. Recurrent translocations involving the IGH gene such as t(11;14), t(4;14) and t(14;16) are well known. However,...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2017-204961
更新日期:2018-08-01 00:00:00
abstract:INTRODUCTION:Modification of the spiral arteries with loss of the muscular vascular wall, invaded by the trophoblasts, represents the goal of the physiological vascular adaptation during human implantation. When physiological vascular changes do not occur, an unfavourable evolution of gestation may develop as suggested...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200092
更新日期:2011-12-01 00:00:00
abstract::A method is described of measuring the response of human lymphocytes to phytohaemagglutinin stimulation using iododeoxyuridine labelled with the gamma-emitting isotope (125)I. The results indicate useful clinical applications. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.22.5.558
更新日期:1969-09-01 00:00:00
abstract::A cytochemical study of the lysosomal enzyme beta-glucuronidase in 60 cases of acute leukaemia has shown a qualitative difference in the cytoplasmic distribution of the enzyme between blast cells of the lymphoid and myeloid cell series. This difference provides a useful additional method for cytochemical classificatio...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.24.9.831
更新日期:1971-12-01 00:00:00
abstract:AIMS:Soft tissue tumours are a heterogeneous group of neoplasms that can arise at almost every anatomical site. As they often show similar clinical and radiological findings, histology is the definitive diagnostic method and it is crucial that the surgical pathology report contains accurate, useful information for mana...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2015-203495
更新日期:2016-09-01 00:00:00
abstract::An ultrastructural cytochemical study of lysosomal acid phosphatase was performed on leukemic cells in a case of chronic lymphocytic leukaemia of T cell origin (T-CLL). The cells showed inclusion bodies known as parallel tubular arrays, which often lay within acid phosphatase-positive, membrane-bound spaces. This sugg...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.35.2.167
更新日期:1982-02-01 00:00:00
abstract::We present the pathological findings in a case of acquired immunodeficiency syndrome (AIDS) in a patient with no known risk factor. Postmortem examination showed klebsiella lung abscess, generalised cytomegalovirus infection, cerebral toxoplasmosis, and a primary cerebral lymphoma. An additional feature was the presen...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.4.471
更新日期:1984-04-01 00:00:00
abstract:AIMS:To establish whether abnormalities in the course of the vertebral artery occur and whether they are relevant to arterial injury associated with head and neck movements. METHODS:Twenty vertebral arteries were carefully dissected at necropsy and abnormalities in course were noted, along with any other bony or carti...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.7.637
更新日期:1995-07-01 00:00:00
abstract:BACKGROUND:Thymidine phosphorylase (TP) is the key enzyme for capecitabine activation in tumour cells. AIMS:To examine whether TP expression in tumour cells and stroma is predictive of the tumour response to capecitabine plus docetaxel chemotherapy in patients with advanced non-small cell lung cancer (NSCLC). METHODS...
journal_title:Journal of clinical pathology
pub_type: 临床试验,杂志文章
doi:10.1136/jcp.2004.022764
更新日期:2005-06-01 00:00:00