Abstract:
:Targeted next-generation sequencing using the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 identified two significant point mutations in endometrial stromal sarcomas (ESS). Case 1 is a uterine mass from a quadragenarian woman with a karyotype lacking any known ESS rearrangements but demonstrated to have a CTNNB1-activating mutation (c.133T>C, p.[Ser45Pro]). Analysis of a uterine mass from case 2, a sexagenarian woman, revealed biallelic CDKN2A-inactivating mutations (c.172C>T, p.[Arg58Ter] and a deletion). Break-apart studies to identify YWHAE, JAZF1 and PHF1 rearrangements were negative in both tumours. We propose a model in which these point mutations may affect cell proliferation, converging at Wnt signalling and G1-S checkpoint control, that independently or in concert with a rare gene fusion result in ESS tumour development or progression.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Patel SB,McCormack C,Hodge JCdoi
10.1136/jclinpath-2020-206432subject
Has Abstractpub_date
2020-12-01 00:00:00pages
830-835issue
12eissn
0021-9746issn
1472-4146pii
jclinpath-2020-206432journal_volume
73pub_type
杂志文章abstract:AIMS:The miR-9 family microRNAs (miRNAs) are tumour suppressor miRNAs implicated in carcinogenesis. We postulated that miR-9-1, miR-9-2 and miR-9-3 may be inactivated by aberrant promoter methylation in multiple myeloma (MM). METHODS:Methylation of miR-9-1, miR-9-2 and miR-9-3 was studied by methylation-specific PCR (...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2014-202817
更新日期:2015-07-01 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:AIMS:To ascertain the effect of enhanced surveillance following an outbreak of waterborne cryptosporidiosis on the number of faecal specimens submitted to the local microbiology laboratory and the number positive for common enteric pathogens. The outbreak provided an opportunity to estimate the extent of routine under ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.55.4.271
更新日期:2002-04-01 00:00:00
abstract:AIMS:To establish a mechanism to examine the components of turnaround time in a representative cross-section of laboratory users; and to identify potential areas for improvement. METHODS:Information was collected manually from result reports received by eight laboratory users: three wards in the main hospital, four GP...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.7.585
更新日期:1994-07-01 00:00:00
abstract::A role has recently been assigned to cell-mediated immunity in chronic liver diseases in addition to the well-known alterations of humoral immunity. We now report the results of the rosette inhibition test for the evaluation of T-lymphocyte "sensitization" in patients with different chronic liver disorders. A cell-med...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.9.778
更新日期:1976-09-01 00:00:00
abstract:AIMS:To develop a readily applicable polymerase chain reaction (PCR) based technique which would permit the identification of Mycobacterium tuberculosis complex isolates from Bactec phials at an earlier stage than currently available methods. METHODS:Mycobacterial cells cultured in Bactec 12B medium were harvested by ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.7.601
更新日期:1992-07-01 00:00:00
abstract::Isolates of Bacillus cereus from 118 cases, and two maternity unit outbreaks, of non-gastrointestinal infection were grouped on the basis of their estimated probable involvement in the infections from which they were isolated: (i) high probability--48 strains; (ii) intermediate--16 strains; (iii) low--7 strains; (iv) ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.10.1091
更新日期:1983-10-01 00:00:00
abstract::A patient with a 10 year history of monoclonal gammopathy of undetermined significance and Bence Jones proteinuria, and a 44 year history of ankylosing spondylitis, developed a nephrotic syndrome secondary to renal amyloidosis. Clinically the amyloidosis was ascribed to Bence Jones proteinuria rather than to the burnt...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.10.934
更新日期:1992-10-01 00:00:00
abstract:AIMS:To assess the accuracy of the Mast-ID 15 system compared with API 20 E for the identification of stock and fresh clinical strains of Enterobacteriaceae and Acinetobacter spp; to compare the accuracy of 19 pin and 36 pin multipoint inoculator heads. METHODS:One hundred frozen stock cultures of Enterobacteriaceae a...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.2.168
更新日期:1992-02-01 00:00:00
abstract:AIMS:To assess the clinical efficacy of diagnostic procedures for breast cancer at a teaching hospital using internal auditing tools and quality control measures. METHODS:A retrospective assessment of 500 patients who underwent core needle biopsy (wide-bore needle biopsy; WBN) of palpable or non-palpable breast nodes ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200057
更新日期:2011-10-01 00:00:00
abstract::The isotopic estimation of the cortisol secretion rate in man is now an accepted and reliable method of assaying adrenal cortical function.Seven years' experience with its clinical use is reviewed and some practical aspects of technique are considered. The mean normal resting cortisol secretion rate is 16.2 +/- 5.7 mg...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.18.1.82
更新日期:1965-01-01 00:00:00
abstract::Factor VIII-containing materials were administered to four severely affected haemophiliacs twice weekly in doses calculated to raise the factor VIII level to either 15% or 30% of average normal. The pooled results from those patients with statistically similar baseline bleeding frequencies showed a significant reducti...
journal_title:Journal of clinical pathology
pub_type: 临床试验,杂志文章
doi:10.1136/jcp.30.1.65
更新日期:1977-01-01 00:00:00
abstract::The usefulness of placental alkaline phosphatase (PLAP) as a diagnostic marker of malignancy was assessed in pleural fluid from 60 patients with effusions. Pleural fluid PLAP activities were measured by an enzyme linked immunoassay (ELISA) using the two monoclonal antibodies H17E2 and H317. Similar values were found i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.12.1114
更新日期:1992-12-01 00:00:00
abstract:AIMS:To evaluate the prevalence of pseudoangiomatous hyperplasia of mammary stroma in gynaecomastia and its immunohistochemical profile in this setting. METHODS:Eighty eight cases of gynaecomastia recovered from the files of the department of pathology, Botucatu School of Medicine from 1976 to 1996 were studied. In th...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.51.3.204
更新日期:1998-03-01 00:00:00
abstract:AIM:Lymphocytic infiltration in the portal triads usually conceals the detection--in haematoxylin and eosin (H&E) stained sections--of bile ducts in two liver diseases: chronic hepatitis and primary biliary cirrhosis. The aim was to assess the number and the characteristics of the bile ducts in those diseases with the ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.53.10.765
更新日期:2000-10-01 00:00:00
abstract::In an investigation of the in vitro phagocytic and microbicidal function of granulocytes collected by filtration leucapheresis (FL) from 18 donors and by discontinuous flow centrifugation leucapheresis (DFC) from six donors, comparison was made with the function of granulocytes obtained from the same donors by venepun...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.5.586
更新日期:1983-05-01 00:00:00
abstract::A monoclonal antibody, produced by peptide immunisation was used to detect the distribution of p62c/myc by immunohistology in normal and coeliac small intestinal mucosa. The effect of gluten in four treated coeliac patients was investigated by taking serial jejunal biopsy specimens for six hours after a 10 g oral glut...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.3.307
更新日期:1987-03-01 00:00:00
abstract::Statistical tables including 50 and 95 percentile ranges are presented of the combined kidney weights compared with body weight, crown-rump length, and gestation age of foetuses and newborn children, and also a table of kidney weights related to post-natal age. The importance of relating kidney weight to more than one...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.13.6.490
更新日期:1960-11-01 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 two families with severe sex-linked muscular dystrophy, high levels of alpha-hydroxybutyrate dehydrogenase (HBD), lactate dehydrogenase (LD), aspartate transaminase (AspT), aldolase, and creatine phosphokinase (CPK) were found in the sera of three young affected males. In both families the mother had a raised level...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.19.3.250
更新日期:1966-05-01 00:00:00
abstract:AIMS:Meticillin-resistant Staphylococcus aureus (MRSA) strains isolated in Tawam Hospital, a tertiary care hospital in the United Arab Emirates, were examined in order to understand the reasons for a doubling of its incidence between 2003 and 2008 while maintaining the same infection control measures. METHODS:All cons...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200436
更新日期:2012-02-01 00:00:00
abstract::The sensitivity of methods to detect antibodies to intrinsic factor was assessed. Five sera of known antibody content were tested in 31 laboratories and 30 sera from patients with pernicious anaemia were tested in one laboratory. Five non-commercial methods and two kits for type I antibodies and one non-commercial met...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.42.2.210
更新日期:1989-02-01 00:00:00
abstract::Experience gained in the last four years concerning the capabilities and limitations of an 8K Elliott 903 (18-bit word) computer with magnetic tape backing store in the routine operation of a clinical chemistry laboratory is described. Designed as a total system, routine operation has latterly had to be confined to da...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.26.7.480
更新日期:1973-07-01 00:00:00
abstract::A patient with hyperparathyroidism due to a parathyroid adenoma was found to have metastatic medullary carcinoma in lymph nodes close to the thyroid gland. The finding of normal calcitonin and parathormone concentrations after removal of the adenoma suggested that the parathyroid lesion was not the result of the hypoc...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.24.9.851
更新日期:1971-12-01 00:00:00
abstract:AIMS:To set up a network for remote consultation using static imaging telepathology via Internet connection between pathologists in different European countries, and to collect some numerical and subjective impressions on the usefulness of this form of telepathology. METHODS:A static image remote consultation network ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.54.10.752
更新日期:2001-10-01 00:00:00
abstract:BACKGROUND:The TNM classification for renal cell cancer (RCC) should accurately predict and assign prognostic information for patients. In this study the recent 2010 revision to the TNM classification was compared with the previous 2002 classification with regard to survival outcomes. METHODS:All patients having radic...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2011-200468
更新日期:2012-04-01 00:00:00
abstract::A method of typing isolates of Proteus mirabilis and Proteus vulgaris is described based on the sensitivity of the organisms to bacteriocine. Twelve standard proteocine producing strains were selected from a large number of isolates tested, and from these liquid proteocine preparations were prepared. The sensitivities...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.10.784
更新日期:1975-10-01 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::The results of the measurement of vitamin B(12) absorption by counting the radioactivity of 5 ml. serum obtained eight to 10 hours after the ingestion of an oral dose of 0.5 mug. vitamin B(12) labelled with 0.5 muc. (57)Co are compared with those obtained with the urinary excretion (Schilling) test. Inadequate urine c...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.19.6.606
更新日期:1966-11-01 00:00:00
abstract:BACKGROUND:The "classical" antineutrophil cytoplasmic antibody (C-ANCA) pattern seen on indirect immunofluorescence (IIF) is characterised by granular cytoplasmic staining showing central or interlobular accentuation, and is strongly associated with antiproteinase-3 antibodies (PR3-ANCA) and Wegener's granulomatosis. H...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.52.2.124
更新日期:1999-02-01 00:00:00