Abstract:
AIMS:To identify calcifying epithelial odontogenic tumour (CEOT) mutations in oncogenes and tumour suppressor genes. METHODS:A panel of 50 genes commonly mutated in cancer was sequenced in CEOT by next-generation sequencing. Sanger sequencing was used to cover the region of the frameshift deletion identified in one sample. RESULTS:Missense single nucleotide variants (SNVs) with minor allele frequency (MAF) <1% were detected in PTEN, MET and JAK3. A frameshift deletion in CDKN2A occurred in association with a missense mutation in the same gene region, suggesting a second hit in the inactivation of this gene. APC, KDR, KIT, PIK3CA and TP53 missense SNVs were identified; however, these are common SNVs, showing MAF >1%. CONCLUSION:CEOT harbours mutations in the tumour suppressor PTEN and CDKN2A and in the oncogenes JAK3 and MET. As these mutations occurred in only one case each, they are probably not driver mutations for these tumours.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
de Sousa SF,Diniz MG,França JA,Fontes Pereira TDS,Moreira RG,Santos JND,Gomez RS,Gomes CCdoi
10.1136/jclinpath-2017-204813subject
Has Abstractpub_date
2018-03-01 00:00:00pages
279-283issue
3eissn
0021-9746issn
1472-4146pii
jclinpath-2017-204813journal_volume
71pub_type
杂志文章abstract:AIMS:To determine the causes of death in patients with osteogenesis imperfecta, excluding infants with the perinatal lethal form (type II). METHODS:Seventy nine patients with known osteogenesis imperfecta were identified, 37 of whom had been seen clinically in life. Causes of death were identified from death certifica...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.8.627
更新日期:1996-08-01 00:00:00
abstract::Agar gel, cellulose acetate, and starch gel electrophoresis are all capable of diagnosing sickle-cell anaemia, sickle-cell haemoglobin C disease, and haemoglobin C disease in cord blood samples. Of these three electrophoretic techniques, agar gel is the easiest to interpret.Paper electrophoresis can reliably and rapid...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.6.533
更新日期:1970-09-01 00:00:00
abstract::A case of florid rheumatoid heart disease with complete heart block is described, and the histopathology of the atrioventricular conducting tissue is described in detail. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.7.623
更新日期:1970-10-01 00:00:00
abstract:INTRODUCTION:Large granular lymphocyte (LGL) leukaemia is considered a mature T-cell or natural killer (NK) cell neoplasm, characterised by a clonal proliferation of LGL. AIMS:To analyse the characteristics and to establish (if possible) the prognostic parameters of these patients diagnosed in a single centre: Univers...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2020-207191
更新日期:2021-01-21 00:00:00
abstract::An investigation into the noise levels in a clinical chemistry laboratory has been carried out. It was shown that although the levels were insufficient to cause damage to hearing, they exceeded the criteria of acceptability for offices and workshops. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.5.445
更新日期:1970-07-01 00:00:00
abstract:INTRODUCTION:Cellular blue naevi (CBN) measure 1-2 cm in diameter and affect the dermis, occasionally extending into the subcutaneous fat. The case of a 14-year-old boy with a giant CBN (GCBN) involving the right half of the face, the jugal mucosa and the lower eyelid with a tumour that had infiltrated the bone and the...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.029488
更新日期:2007-01-01 00:00:00
abstract::The prevalence of Helicobacter pylori infection in patients with Barrett's oesophagus was studied prospectively. A sensitive immunohistochemical staining of H pylori was performed in oesophageal and gastric biopsies of 73 patients from a surveillance group with this condition. H pylori was detected in 11 cases of Barr...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.2.176
更新日期:1996-02-01 00:00:00
abstract::In the present investigation, the prevalence of focal lymphocytic adenitis in the submandibular salivary gland was observed in a series of 116 postmortem subjects after suitable exclusions had been made. Focal lymphocytic adenitis could not be demonstrated in the labial salivary glands. The degree of lymphocytic infil...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.8.690
更新日期:1970-11-01 00:00:00
abstract:AIMS:Because sentinel lymph node (SLN) biopsy for breast cancer has become well established, one of the challenges now is to determine which patients require a completion axillary dissection following a positive SLN biopsy. METHODS:A prospective database of patients who underwent SLN biopsy for invasive breast cancer ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.57.1.73
更新日期:2004-01-01 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::Small cell neuroendocrine carcinoma of the breast is a rare tumour with less than 30 cases reported in the literature. The clinicopathological findings of three cases of primary neuroendocrine carcinoma of the breast and a review of the pertinent literature are presented. The morphological and immunohistochemical patt...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.2004.020792
更新日期:2005-07-01 00:00:00
abstract::A latex enzyme immunoassay (LEIA) for detecting IgG class antibody to rubella virus was compared with the latex agglutination test (LA) and a haemagglutination inhibition assay (HI). Of 243 sera tested, four discrepant results were observed among all three techniques, corresponding to borderline values. Except for one...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.9.766
更新日期:1990-09-01 00:00:00
abstract:AIMS:The JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques. Given the ease of JAK2 V617F testing, this test may be improperly requested for the purposes of patient 'screening' and to opti...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205527
更新日期:2019-02-01 00:00:00
abstract::A biological method for detecting streptococcal nicotinamide adenine dinucleotide glycohydrolase (NADG) is presented, based on its ability to inhibit the growth of Haemophilus parainfluenzae. Three hundred clinical isolates of beta-haemolytic streptococci were tested. All isolates producing NADG belonged to Lancefield...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.32.6.556
更新日期:1979-06-01 00:00:00
abstract::Two cases of peritoneal granulomatous reactions to food starch are described. They followed bowel perforation and clinically mimicked tuberculous and glove-powder starch peritonitis. Their histological differences from corn-starch peritonitis warrant attention in the absence of previous documentation of starch as a co...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.4.435
更新日期:1983-04-01 00:00:00
abstract:AIM:We examined the genetic alterations in a mother and son with multiple eosinophilic chromophobe renal cell carcinomas (chRCCs) showing no other features. METHODS:Germline DNA and bilateral renal cell carcinoma DNA were genetically analysed by whole-exome sequencing. Candidate gene alterations in the first patient's...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205211
更新日期:2018-10-01 00:00:00
abstract::In a twenty-year period 19 appendicectomy specimens were diagnosed as primary Crohn's disease. This represents 4.9% of the total number of both resection specimens and mucosal biopsies diagnosed as Crohn's disease during that time. This is a review of the main histopathological features found in these appendices and t...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.6.632
更新日期:1983-06-01 00:00:00
abstract::Results of serological investigations on patients with joint pain, arthralgia or polyarthritis were analysed and this information was used to develop a diagnostic algorithm to ensure optimal utilisation of laboratory resources. Accordingly, all cases are now examined for parvovirus IgM, mycoplasma IgM and streptococca...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.8.777
更新日期:1995-08-01 00:00:00
abstract::In 12 normal subjects plasma calcium and phosphorus concentrations were estimated during a normal working day. In the individual subjects fluctuations from the fasting values occurred during the period of study, but at no time during that period did the mean values differ significantly from the fasting plasma calcium ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.9.772
更新日期:1970-12-01 00:00:00
abstract::The clinical and pathological findings in 23 patients with ischaemic lesions of the alimentary tract (ischaemic enterocolitis) are described. These are compared with findings in 13 patients with occlusive thrombosis of the superior mesenteric artery. The pathological features distinguishing the two conditions are disc...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.2.99
更新日期:1972-02-01 00:00:00
abstract:AIMS:Hypomethylating agents (HMAs) exhibit clinical efficacy in patients with myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). This study was performed to assess residual disease status by flow cytometry immunophenotyping (FCI) methods in patients with MDS or MDS/MPN treated w...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2016-203715
更新日期:2016-04-15 00:00:00
abstract::Guidance by bacteriologists and changes in theatre and ward disciplines have greatly improved the results of urological surgery in recent years. The most noteworthy successes have been in treatment of chronic retention with renal failure, and in prevention of the bacteraemia which may occur following removal of the po...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.17.5.492
更新日期:1964-09-01 00:00:00
abstract:AIMS:Evidence suggests that the presence of tumour necrosis is an adverse prognostic factor in renal cell carcinoma (RCC). However, it has also been shown that tumour regression, a microscopic feature associated with necrosis, may be a favourable short term prognostic factor in RCC. METHODS:Pathology reports of 253 RC...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2004.018846
更新日期:2005-01-01 00:00:00
abstract::The performance of coagulometers in the National Quality Assessment Scheme (NEQAS) surveys of the prothrombin time conducted between 1986 and 1987 was reviewed. There were sufficient data for analysis for eight types of coagulometer used with a single type of thromboplastin reagent and one instrument with an alternati...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.42.1.97
更新日期:1989-01-01 00:00:00
abstract::Gastrointestinal cell proliferation plays an important role in the maintenance of the integrity of the gastrointestinal system. The study of gastrointestinal proliferation kinetics allows a better understanding of the complexity of the system, and also has important implications for the study of gastrointestinal carci...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.52.5.321
更新日期:1999-05-01 00:00:00
abstract:AIMS:To examine the correlation between bromodeoxyuridine (BrdU) labelling indices (LI) and tubular damage in renal biopsy specimens; to evaluate the diagnostic and prognostic potential of measuring cell proliferation in a variety of renal lesions. METHODS:In vitro BrdU labelling of renal biopsy specimens was undertak...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.12.1085
更新日期:1994-12-01 00:00:00
abstract:AIMS:The Royal College of Pathologists recommend that a median of at least 12 lymph nodes should be harvested during pathological staging of colorectal cancer. It is not always easy to harvest the required number, especially in patients with rectal cancer receiving neoadjuvant therapy. Lymph node revealing solutions, f...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2015-203281
更新日期:2016-06-01 00:00:00
abstract::The proportion of fimbriate strains amongst Escherichia coli freshly isolated from infected urines did not differ significantly from the proportion amongst commensal Esch. coli isolated from the bowel and from non-infected urines. It is concluded that fimbriae play no major role in the pathogenesis of Esch. coli urina...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.20.1.84
更新日期:1967-01-01 00:00:00
abstract::Several diseases of the small intestine, including gluten-sensitivity, present with malabsorption and a "flat" mucosa. Determination of the mitotic index of epithelial lymphocytes provides a simple, objective method of assessing, and thus of predicting, whether a flat mucosa is due to gluten-sensitivity (index greater...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.2.149
更新日期:1983-02-01 00:00:00
abstract:INTRODUCTION/METHODS:After the recognition of contaminating algae on histopathological sections stained by periodic acid Schiff (PAS) and Grocott methods, a detailed audit was undertaken to assess the extent of contamination and its possible source. RESULTS:The contaminating organism was a member of the staurastrum ge...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.026187
更新日期:2005-10-01 00:00:00