Abstract:
INTRODUCTION:The role of single mutations has been extensively studied myelodysplastic syndromes (MDS), but the impact of genetic aberrations in the context of other mutations is less well understood. BCOR is an epigenetic transcriptional corepressor. In MDS, BCOR mutations are rare and certain mutations are associated with poor prognosis. Our aim was to investigate the role of concurrent mutations in epigenetic MDS-driver genes in BCOR-mutated MDS. We hypothesised that these would be redundant and would not contribute to worse prognosis. METHODS:Internal Next Generation Sequencing (NGS) database with targeted genetic profiling of >4000 tumor cases was queried to locate cases of MDS with BCL6 Corepressor protein (BCOR) mutations only (pBCOR) and cBCOR (comutated epigenetic modulators: TET2, ASXL1, DNMT3A, EZH2, IDH2, IDH1, BCORL1, ATRX). Overall survival was determined by chart review. Fischer's exact test and unpaired t-test was performed for statistical analysis. RESULTS:25 patients with cBCOR were detected. Only five MDS patients with pBCOR were found. The number of patients with comutations (cBCOR) in epigenetic modulators comprised TET2 (n=5), ASXL1 (n=9), DNMT3A (n=11), EZH2 (n=2), IDH2 (n=4), IDH1 (n=1), BCORL1 (n=3), ATRX (n=1). cBCOR overall survival was 23.8 months versus 11.8 months for pBCOR group. CONCLUSIONS:In this study, we confirm the rarity of BCOR mutations. Our results show that there is a trend towards poorer prognosis in patient with pBCOR versus cBCOR although statistical significance was not reached. This may be due to enrichment of poor cytogenetics in pBCOR or increased responsiveness to hypomethylating agents in cBCOR. Larger studies are needed to validate our data.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Badaat I,Mirza S,Padron E,Sallman D,Komrokji R,Song J,Hussaini MOdoi
10.1136/jclinpath-2019-206132subject
Has Abstractpub_date
2020-04-01 00:00:00pages
209-212issue
4eissn
0021-9746issn
1472-4146pii
jclinpath-2019-206132journal_volume
73pub_type
杂志文章abstract::The activities of three commercial products of papain were compared as supplied and after activation, and when used in the enzyme-serum method for rhesus (D) grouping. Certain dangers in activation became apparent, and accurate determination of the proportions of papain to anti-D appeared more important than indiscrim...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.15.6.503
更新日期:1962-11-01 00:00:00
abstract::Liver function was assessed in 38 Edinburgh haemophiliacs. Results before the introduction of NHS intermediate factor VIII concentrate from 1974 onwards were compared with values in 1979. Measurements of serum bile salts in 16 patients as well as conventional liver function tests gave useful evidence of deranged liver...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.34.1.17
更新日期:1981-01-01 00:00:00
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 number of granulocyte/macrophage colonies grown in vitro from bone marrow cells obtained from 90 rib segments and 30 ;normal' bone marrow aspirates was found to be highly variable. Considerable variation was also noted in the relationship between colony number and the number of cells cultured in both groups. The a...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.27.10.776
更新日期:1974-10-01 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 evaluate the role of hepatocyte expression of leucocyte adhesion molecules and major histocompatibility complex (MHC) antigens in the pathogenesis of chronic viral hepatitis. METHODS:The expression of intercellular adhesion molecule 1 (ICAM-1), lymphocyte function associated antigen 3 (LFA-3), and MHC class I ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.46.11.1004
更新日期:1993-11-01 00:00:00
abstract::A panel of three monoclonal antibodies were used in an immunoalkaline phosphatase staining method on a series of serous effusion samples from cases of mesothelioma, lung carcinoma, and benign disease. The antibodies used were anti-carcinoembryonic (CEA) antigen, Ca, and anti-human milk fat globule membrane antigen. An...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.12.1424
更新日期:1987-12-01 00:00:00
abstract::A sensitive gas chromatography-mass spectrometric method was used to measure the generation in whole blood of leukotriene B4 (LTB4), a potent stimulator of neutrophil chemotaxis, in eight patients with chronic granulocytic leukaemia (CGL) and 12 healthy controls. LTB4 was detectable in unstimulated samples from all th...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.41.11.1163
更新日期:1988-11-01 00:00:00
abstract::Accurate diagnosis of Clostridium difficile infection (CDI) is essential for optimal treatment, prevention and control. There are two reference assays for CDI diagnosis: the cell cytotoxicity assay (CCTA) and toxigenic culture (TC). Importantly, these tests actually detect different targets: CCTA detects the presence ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2010.080135
更新日期:2011-01-01 00:00:00
abstract:AIMS:The chemokine receptor CXCR7 is found on glioma cells and glioma-associated vessels and dependent upon its localisation on tumour or endothelial cells the CXCR7 receptor can mediate glioma cell invasion and tumour angiogenesis. Its expression predicts survival in several types of cancers. METHODS:We immunohistoch...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2015-202886
更新日期:2015-10-01 00:00:00
abstract::A rapidly fatal case of enteritis necroticans in a 24 year old man with diabetes was caused by Clostridium perfringens type C. The role of beta toxin in the disease is discussed. This type has not been previously described as a causative agent in necrotising bowel disease of man outside endemic areas. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.8.942
更新日期:1984-08-01 00:00:00
abstract::Patients with congenital lung cysts are at increased risk of developing carcinoma, but the mechanisms concerned are not clear. The case of a young adult who developed a bronchioloalveolar carcinoma associated with a cystic congenital adenomatoid malformation is reported. The adjacent lung showed an unusual intra-alveo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.6.612
更新日期:1987-06-01 00:00:00
abstract::Current techniques for lymphocyte transformation are evaluated and criticised. A simple technique, designed to meet these criticisms, is described in detail, with particular reference to lymphocyte separation and scoring methods. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.21.2.175
更新日期:1968-03-01 00:00:00
abstract:AIMS:Neoadjuvant chemoradiation therapy (CRT) is an increasingly used therapeutic strategy for rectal cancer. Clinically, it remains a major challenge to predict therapeutic response and patient outcome after CRT. Rsf-1 (HBXAP), a novel nuclear protein with histone chaperon function, mediates ATPase-dependent chromatin...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2012-200786
更新日期:2012-08-01 00:00:00
abstract::The degree of inflammation in the trachea, bronchi, and lungs of 139 cot deaths has been analysed and each case allocated to one of four groups. In group I the changes were considered to be serious enough to have caused death, while group II cases showed similar abnormalities but of a less severe nature, and in this g...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.11.899
更新日期:1975-11-01 00:00:00
abstract::One hundred prostates from 20 to 40 year old men obtained at necropsy were completely sectioned and studied microscopically. Atypical hyperplasia was found in 10 (20%) of 20-29 year old men and in 12 (24%) of 30-40 year old men. The prostates with atypical hyperplasia had similar weights as those without, and the atyp...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.42.4.383
更新日期:1989-04-01 00:00:00
abstract::In order to determine the cellular distribution of androgen receptors (AR) in normal liver and to examine whether phenotypic changes occur in a variety of non-neoplastic liver diseases, cryostat sections of explanted livers removed from 52 consecutive patients undergoing orthotopic transplantation were immunostained u...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.5.418
更新日期:1996-05-01 00:00:00
abstract::Macroscopic evidence of bruising from human bite marks may be inconclusive and routine histochemical methods of showing extravasated erythrocytes can be unreliable. Leuco patent blue staining, for the presence of peroxidase, Amido black B, a tinctorial staining method for haemoglobin, Perls's reaction for ferric iron ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.7.600
更新日期:1990-07-01 00:00:00
abstract::Mast cells were identified by electronmicroscopy in the alveolar wall of the lung in 20 subjects (10 normal, 10 abnormal). A quantitative and qualitative study was made of the mast cells. In the normal lung there was an average concentration of 350 mast cells/mm2 of alveolar wall and in the abnormal 523/mm2. Mast cell...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.34.12.1333
更新日期:1981-12-01 00:00:00
abstract:BACKGROUND:Microscopic examination of scalp hair can provide important diagnostic information in a range of paediatric conditions. It is a non-invasive and cost effective investigation, which is not widely performed. AIMS:To examine retrospectively the value of hair examination by light microscopy, including polarisin...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.027581
更新日期:2005-12-01 00:00:00
abstract::Carcinoma-associated fibroblast (CAF) as prominent cell type of the tumour microenvironment has complex interaction with both the cancer cells and other non-neoplastic surrounding cells. The CAF-derived regulators and extracellular matrix proteins can support cancer progression by providing a protective microenvironme...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2014-202561
更新日期:2014-12-01 00:00:00
abstract:AIM:To determine the frequency, pattern and distribution of stromal keratin expression in phyllodes tumours if any, which may impact diagnostic approaches. METHODS:The clinicopathological features of 109 phyllodes tumours comprising 70 (64.2%) benign, 30 (27.5%) borderline and nine (8.3%) malignant grades were evaluat...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200377
更新日期:2012-04-01 00:00:00
abstract::The possible use of sodium hypochlorite solution buffered to pH 7.6 and containing 100 ppm available chlorine (avCl) for disinfecting fibrescopes was investigated. A flexible fibrescope experimentally contaminated with Pseudomonas putida, Mycobacterium fortuitum, or Bacillus subtilis spores was effectively disinfected...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.35.3.296
更新日期:1982-03-01 00:00:00
abstract::Four assays for the detection of alphafetoprotein (AFP) in the diagnosis of primary hepatocellular carcinoma (HCC) were evaluated. The frequency of AFP detection was compared in 89 HCC patients and in 71 patients with chronic active hepatitis/cirrhosis. Of the four assays, immunodiffusion, counterimmunoelectrophoresis...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.33.8.792
更新日期:1980-08-01 00:00:00
abstract:AIMS:The authors previously demonstrated that nasal mucus cyclic adenosine 3', 5'-monophosphate (cAMP) and cyclic 3', 5'-guanosine monophosphate (cGMP) were lower in patients with smell and taste dysfunction than in normal individuals. To learn more about these differences this study related levels of nasal mucus cAMP ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2012-200698
更新日期:2012-05-01 00:00:00
abstract::A histochemical method is described of differentiating between normal and neoplastic cells in plasma using the activity of various enzymes characteristic of plasma cells. It was found that in both types of cell increased or diminished activity of cytoenzymes is a useful means of distinguishing between normal and abnor...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.18.3.345
更新日期:1965-05-01 00:00:00
abstract::In a case of atypical mucin-producing bronchial carcinoid in a 40-year-old man covert metastases were present at the time of lobectomy and were revealed at necropsy--a feature highlighting the malignant potential of the atypical carcinoid. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.31.12.1218
更新日期:1978-12-01 00:00:00
abstract:AIMS:To characterise further the proliferative compartment of the normal cervix and to document its alteration, if any, in the various grades of cervical intraepithelial neoplasia (CIN), particularly changes to the basal epithelial layer; to hypothesise as to the diagnostic and biological significance of any observed d...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.8.667
更新日期:1996-08-01 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::Campylobacter pyloridis is a spiral bacterium which was seen by histopathologists several years before it was cultured in 1982 in Perth, Western Australia. It has unique cellular fatty acids, predominantly tetradecanoic acid and cis-11, 12 methylene octadecanoic acid. It also has a unique ultrastructure which is diffe...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.39.4.353
更新日期:1986-04-01 00:00:00