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 germline were investigated in her child's germline and the chRCCs. RESULTS:We detected several germline gene alterations in the mother. Among the identified alterations, TSC1 and mitochondrial DNA mutations were also confirmed in her son. Regarding somatic alterations in bilateral chRCCs, no common candidate gene alteration was found. CONCLUSION:To the best of our knowledge, this is the first report of whole-exome sequencing revealing bilateral eosinophilic chRCCs associated with tuberous sclerosis complex in a family case without classical phenotype. These results suggest that germline TSC1 and mitochondrial DNA gene mutations may be involved in the development of chRCCs in some cases.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Sakamoto H,Yamasaki T,Sumiyoshi T,Utsunomiya N,Takeda M,Kamba T,Nakamura E,Ogawa Odoi
10.1136/jclinpath-2018-205211subject
Has Abstractpub_date
2018-10-01 00:00:00pages
936-943issue
10eissn
0021-9746issn
1472-4146pii
jclinpath-2018-205211journal_volume
71pub_type
杂志文章abstract::An immunological method for detecting fibrin degradation products by tanned cells agglutination has been standardized. The effects of different variables, such as cell concentration, pH, and length of incubation, and the specificity of the reaction, are described. The method is compared with other immunological techni...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.23.4.299
更新日期:1970-05-01 00:00:00
abstract:AIM:Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China. METHODS:In total, 13397 consecutive samples from five geograph...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2003.014456
更新日期:2004-05-01 00:00:00
abstract::Organising pneumonia (otherwise referred to as bronchiolitis obliterans organising pneumonia) is characterised histologically by plugs of granulation tissue, which are present predominantly within small airways, alveolar ducts and peri-bronchiolar alveoli. This pattern is not specific for any disorder or cause, but is...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2012-201342
更新日期:2013-10-01 00:00:00
abstract::The plasma concentrations of biotin were measured for up to 49 days after injury in nine children with burns and scalds which involved from 12% to 50% of the surface area of the body. Biotin levels below the minimum of the control range were observed in eight of the nine injured children at some stage during the episo...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.1.58
更新日期:1976-01-01 00:00:00
abstract::A polyclonal antiserum, produced in sheep and reactive against purified human leucocyte elastase, has been applied to paraffin sections from a range of human tissues by means of the indirect immunoperoxidase method. Striking and consistent results have been obtained. Normal or inflammatory granulocytes were intensely ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.10.1114
更新日期:1984-10-01 00:00:00
abstract::The 24-hour urinary excretion of cyclic 3',5'-adenosine monophosphate (cAMP) was measured by a protein-binding assay in 55 healthy volunteers (aged 20-35 yr) and in 30 hospitalized elderly subjects (aged 70-93 yr). In the older subjects the mean 24-hour cAMP excretion was significantly lower; the correlation between c...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.1.69
更新日期:1976-01-01 00:00:00
abstract::An analysis of the plasma proteins in the sol phase of sputum was carried out using quantitative cross immunoelectrophoresis. The average concentrations of nine plasma proteins were estimated in the sol phase of sputum specimens from 30 patients with chronic bronchitis and the values were compared with the concentrati...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.26.11.852
更新日期:1973-11-01 00:00:00
abstract::Platelet adhesiveness has been assessed on whole blood from a series of 34 diabetics and 50 control subjects using adenosine diphosphate (A.D.P.) and by adherence to glass microspherules (ballotini). Using both techniques it was possible to demonstrate a significant increase in platelet adhesiveness in the diabetic pa...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.20.6.845
更新日期:1967-11-01 00:00:00
abstract::This best practice review examines four series of common primary care questions in laboratory medicine: (i) "minor" blood platelet count and haemoglobin abnormalities; (ii) diagnosis and monitoring of anaemia caused by iron deficiency; (iii) secondary hyperlipidaemia and hypertriglyceridaemia; and (iv) glycated haemog...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.200X.033944
更新日期:2006-08-01 00:00:00
abstract::Thirteen meningiomas of varying light microscopic features were studied immunohistologically using a panel of monoclonal antibodies directed against epithelial, mesenchymal, and neural components. All 13 meningiomas showed expression of epithelial membrane antigen, vimentin, and S100 protein, as did normal meninges. F...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.39.4.435
更新日期:1986-04-01 00:00:00
abstract:BACKGROUND:Hepatic fibrosis is one of the main consequences of liver disease. Both fibrosis and steatosis may be seen in some patients with chronic hepatitis C and alcoholic liver disease (ALD). AIMS:To quantitate fibrosis and steatosis by stereological and morphometric techniques in patients with chronic hepatitis C ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jcp.54.6.461
更新日期:2001-06-01 00:00:00
abstract::The diagnostic value of the Becton Dickinson Radioassay Kit (125I) for the the assay of red cell folate has been investigated. The assay was acceptable with regards to precision but was non-linear with changing packed cell volume. Sensitivity of the assay was satisfactory, with 24 of 25 folate deficient patients givin...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.8.888
更新日期:1984-08-01 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::This study has shown that different supplies/batches of orcein perform differently and may fail. The "natural" forms generally performed better although the most informative results were obtained with a "synthetic" product. Orcein dye solutions can be used soon after preparation and for up to 7 days without the need f...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.35.4.430
更新日期:1982-04-01 00:00:00
abstract::Tuberous sclerosis is a rare disease with classic primary or secondary changes affecting mainly the cerebrum, skin, kidneys, and heart. Such lesions are generally hamartomatous and thus display malignant features only in rare cases. This paper describes four cases of tuberous sclerosis which were unique in their assoc...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.37.3.272
更新日期:1984-03-01 00:00:00
abstract::Phyllodes tumours (PTs) of the breast are true biphasic neoplasms within which interactions between the epithelium and stroma are critical for tumour development and progression. Despite numerous studies reporting the results of ancillary marker investigations in PTs, the current histological grading systems remain un...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2012-201082
更新日期:2013-06-01 00:00:00
abstract:AIM:To determine the size of a cervical biopsy specimen with human papillomavirus (HPV) infection required to enable in situ hybridisation to be carried out with a guarantee of a reliable result. METHODS:In situ hybridisation was carried out in 142 cervical uterine biopsy specimens classified histologically as low gra...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.1.57
更新日期:1995-01-01 00:00:00
abstract::Partial myoepithelial differentiation is common in simple epithelial hyperplasia (epitheliosis) of the breast but functional myoepithelial differentiation with basement membrane production is exceedingly rare. A peculiar change of hyaline globules within benign epithelial hyperplasia has been recognised before as "col...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.11.905
更新日期:1990-11-01 00:00:00
abstract::A rapid technique using a non-radioactive receptor molecule (digoxigenin) for intrahepatic hepatitis B virus (HBV) DNA detection using in situ hybridisation was developed. It can be adapted for use in combination with standard immunohistochemistry for simultaneous detection of both HBV DNA and HBV antigens. The total ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.44.11.905
更新日期:1991-11-01 00:00:00
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-activ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2020-206432
更新日期:2020-12-01 00:00:00
abstract::An enzyme linked immunosorbent assay (ELISA) based on the antibody class capture method for the detection of specific IgM against Toxoplasma gondii, using the microtitre plate format, was developed. Antigen binding was detected using a monoclonal antibody, CIE3, conjugated to horseradish peroxidase. Prior mixing of th...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.3.276
更新日期:1987-03-01 00:00:00
abstract::Recent publications have suggested that fixing neutrophils in formalin is a useful adjunct to the differentiation of antinuclear antibodies from perinuclear antineutrophil cytoplasmic antibodies. In this small comparative study of 30 sera the use of an additional slide of formalin fixed neutrophils did not add any use...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.1.89
更新日期:1995-01-01 00:00:00
abstract::The sensitivity of 12 commonly used anti-HIV-1/HIV-2 enzyme immunoassays was evaluated. The assays, each of which utilises at least one synthetic HIV antigen, were tested against a panel of 1092 specimens previously designated anti-HIV positive. In a total of 13 104 tests there were eight false negative results attrib...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.5.490
更新日期:1995-05-01 00:00:00
abstract::A clinical study of 401 cases of tumour of salivary tissue has been made and the results reported, together with a review of the literature. The histological variations of such tumours are classified and discussed. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.14.3.232
更新日期:1961-05-01 00:00:00
abstract:BACKGROUND:Cytokeratin immunohistochemistry (IHC) reveals a higher rate of occult lymph node metastases among lobular carcinomas than among ductal breast cancers. IHC is widely used but is seldom recommended for the evaluation of sentinel lymph nodes in breast cancer patients. OBJECTIVE:To assess the value of cytokera...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jcp.2005.029991
更新日期:2006-05-01 00:00:00
abstract::A family with hypobetalipoproteinaemia was studied to examine the Lp(a) lipoprotein, lipoprotein cholesterol, and triglyceride composition of the serum lipids. Lp(a) lipoprotein was measured by immunoassay. Serum lipoproteins were separated by ultracentrifugation. Cholesterol and triglycerides were measured using stan...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.48.6.587
更新日期:1995-06-01 00:00:00
abstract::Laboratory studies on clotrimazole showed that it had marked activity in vitro against all the Candida spp. and Cryptococcus spp. tested, against almost all strains of dermatophytes, and against Aspergillus spp and other fungal genera responsible for systemic mycoses; it had limited activity towards Gram-positive bact...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.12.1089
更新日期:1972-12-01 00:00:00
abstract::In two cases of infected total hip replacements, Peptococcus magnus was isolated in pure culture from the implant when it was removed. Fluorescent antibody and ELISA studies have shown that both patients developed an antibody response to this anaerobic coccus soon after the replacement operation. These results suggest...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.32.1.61
更新日期:1979-01-01 00:00:00
abstract::A method for identifying Helicobacter pylori using a non-isotopic in situ hybridisation technique is described. A probe generated by polymerase chain reaction (PCR) with primers directed against parts of the Helicobacter pylori 16SrRNA sequence was used. Paraffin wax embedded gastric biopsy specimens from patients wit...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.9.862
更新日期:1994-09-01 00:00:00
abstract::Microsatellite instability (MSI) testing is tricky in gynaecological cancers (GC). Thus, we aimed to describe the instability patterns to improve MSI test interpretation in sporadic and hereditary GCs. Ninety-five cases, including uterine and ovarian cancers, with known genetic and immunohistochemical (IHC) features, ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2017-204348
更新日期:2017-09-01 00:00:00