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Journal of Clinical Pathology

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https://www.readbyqxmd.com/read/28814568/fetal-type-gastrointestinal-adenocarcinoma-a-morphologically-distinct-entity-with-unfavourable-prognosis
#1
Kshtij Arora, Munita Bal, Angela Shih, Andrea Moy, Lawerence Zukerberg, Ian Brown, Xiuli Liu, Paul Kelly, Esther Oliva, John Mullen, Soomin Ahn, Kyoung-Mee Kim, Vikram Deshpande
AIMS: This multi-institutional study and a re-evaluation of the TCGA cohort explores the morphological spectrum, genetics and outcome of GI (gastrointestinal) hepatoid tumours, tumours expressing alpha-fetoprotein (AFP) and fetal-type (FT) GI adenocarcinomas. METHODS: 44 tumours with evidence of hepatocellular differentiation were evaluated for morphology as well as by immunohistochemistry for AFP, HepPar1, glypican-3 and arginase-1 and by in situ hybridisation for albumin...
August 16, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28801349/c-myc-expression-in-adrenocortical-tumours
#2
Mirkka Pennanen, Jaana Hagström, Ilkka Heiskanen, Timo Sane, Harri Mustonen, Johanna Arola, Caj Haglund
AIMS: Widespread use of high-resolution imaging techniques and thus increased prevalence of adrenal lesions has made diagnostics of adrenocortical tumours an increasingly important clinical issue. In non-metastatic tumours, diagnosis is based on histology. New or enhanced information for clinicopathological diagnosis, revealing the malignant potential of the tumour, could emerge by means of biomarkers. The connection of proto-oncogene c-myc to adrenocortical neoplasias is poorly known, although the Wnt/beta-catenin pathway, one of the signalling pathways leading to induction of c-myc expression, has been connected to development of adrenocortical neoplasias...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28801348/incidental-detection-of-germline-variants-of-potential-clinical-significance-by-massively-parallel-sequencing-in-haematological-malignancies
#3
Costas K Yannakou, Kate Jones, Georgina L Ryland, Ella R Thompson, Gareth Reid, Michelle McBean, Alison Trainer, David Westerman, Piers Blombery
Massively parallel sequencing (MPS) technology has become routinely available for diagnosis, prognostication and therapeutic decision-making in haematological malignancies. However, increased throughput and wider coverage of genes can have unintended consequences. Germline variants of potential clinical significance (GVPCSs) detected during cancer testing may have implications for patients and families beyond the biological evaluation of a specific tumour. 721 reports generated from MPS panels used in the routine testing of myeloid and lymphoid malignancies were reviewed and variants within genes of potential germline relevance (TP53, RUNX1, GATA2 and WT1 in all contexts and CBL, KRAS and NRAS in the setting of juvenile myelomonocytic leukaemia) were analysed...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#4
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28798207/financial-implications-of-idylla-testing-in-colorectal-cancer-lung-cancer-and-melanoma-a-french-laboratory-point-of-view
#5
LETTER
Glen Le Flahec, Briac Guibourg, Pascale Marcorelles, Arnaud Uguen
No abstract text is available yet for this article.
August 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28794126/a-refined-method-to-study-gene-dosage-changes-in-vitro-using-crispr-cas9
#6
Teresa P Raposo, Henry O Ebili, Mohammad Ilyas
AIMS: Gene dosage can have a major impact on cell biology, although, hitherto, it has been difficult to study using in vitro models. We sought to refine and accelerate the development of 'gene dosage' models through using CRISPR/Cas9 (a gene editing technology) for sequential knockout of gene alleles. METHODS: Our method involved (1) using Cas9 nuclease mRNA rather than expression plasmids, (2) using a fluorescently labelled FAM-6 tracr complexed with guide RNA and (3) using high-resolution melting (HRM) analysis to screen for mutations...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28794125/unexplained-abnormal-liver-function-in-patients-with-primary-antibody-deficiency-could-it-be-chronic-hepatitis-e-infection
#7
Omar E Mohamed, Julie Jones, Husam Osman, Aarnoud P Huissoon
Data from recent studies suggest rising incidence rate of hepatitis E virus (HEV) infection in the UK. HEV infection may take a severe and persistent course in immunocompromised patients, including transplant recipients on immunosuppressives, patients with HIV, haematological malignancies and in idiopathic CD4(+) T lymphocytopenia. The prevalence of HEV in primary antibody deficiency (PAD) disorders is still unknown. The aim of this study was to investigate HEV infection in 27 patients with PAD with unexplained, persistently elevated liver enzymes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28794124/phenotypic-evaluations-of-hbb-c-93-23t-c-a-nucleotide-substitution-in-the-ivs-i-nt-108-of-%C3%AE-globin-gene
#8
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona
BACKGROUND: Thalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide. AIMS: To develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thalassaemia. METHODS: Sequencing analysis was used to obtain complete data on gene structure and to correlate specific phenotypic expression with mutations, especially for new or very rare mutations in globin genes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28784617/haemoglobin-fontainebleau-hba2-c-64g-c-in-oman-molecular-and-haematological-characteristics-and-interaction-with-various-haemoglobinopathies
#9
Shahina Daar, Shoaib Al Zadjali, Salam Alkindi, Yasser Wali, Abdulhakeem Al-Rawas, Humood Al-Haddabi, Arwa Z Al-Riyami
OBJECTIVES: To describe the laboratory features of haemoglobin Fontainebleau (Hb FB) and its interactions with various α and β globin gene mutations in the Omani population. METHODS: Over a period of 10 years, a total of 94 blood samples were suspected to have an α variant on HPLC at the Sultan Qaboos University Hospital, Muscat, Oman. Molecular testing was performed using PCR based techniques to define the variant and to analyse other interacting mutations in either α or β globin genes...
August 7, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28780515/the-concordance-between-component-tests-and-clinical-history-in-british-adults-with-suspected-pollen-food-syndrome-to-peanut-and-hazelnut
#10
Sarah C Beck, Aarnoud P Huissoon, Donna Collins, Alex G Richter, Mamidipudi T Krishna
BACKGROUND: Mild oropharyngeal symptoms to peanut/hazelnut occur in ~30% of patients with pollen-food syndrome (PFS). Component tests are considered a useful adjunct to the diagnosis and may help differentiate PFS from those at a risk of anaphylaxis due to storage protein/lipid transfer protein (LTP) sensitisation. AIMS: To assess concordance between component tests and clinical history in suspected PFS to peanut/hazelnut in a specialist clinic. METHODS: Adult patients were classified into PFS (group 1, n=69) and PFS with mild systemic symptoms (group 2, n=45) based on clinical history...
August 5, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28780514/future-proofing-pathology-the-case-for-clinical-adoption-of-digital-pathology
#11
REVIEW
Bethany Jill Williams, David Bottoms, Darren Treanor
This document clarifies the strategic context of digital pathology adoption, defines the different use cases a healthcare provider may wish to consider as part of a digital adoption and summarises existing reasons for digital adoption and its potential benefits. The reader is provided with references to the relevant literature, and illustrative case studies. The authors hope this report will be of interest to healthcare providers, pathology managers, departmental heads, pathologists and biomedical scientists that are considering digital pathology, deployments or preparing business cases for digital pathology adoption in clinical settings...
August 5, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775176/epigenetic-silencing-of-lpp-mir-28-in-multiple-myeloma
#12
Zhenhai Li, Kwan Yeung Wong, Godfrey Chi-Fung Chan, Chor Sang Chim
AIMS: miR-28-5- is a tumour suppressor microRNA implicated in cancers. As a CpG island is absent in miR-28-5- but present in its host gene, LPP (LIM domain containing preferred translocation partner in lipoma), we hypothesized that miR-28-5p is epigenetically silenced by promoter DNA methylation of its host gene in multiple myeloma. METHODS: Methylation-specific PCR, verified by quantitative bisulfite pyrosequencing, was employed to study methylation of LPP/miR-28 in healthy controls (n=10), human myeloma cell lines (HMCLs) (n=15), and primary myeloma marrow samples at diagnosis (n=49) and at relapse (n=18)...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775175/molecular-profiling-and-targeted-inhibitor-therapy-in-atypical-chronic-myeloid-leukaemia-in-blast-crisis
#13
LETTER
Stephen E Langabeer, Claire M Comerford, John Quinn, Philip T Murphy
No abstract text is available yet for this article.
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775174/comparison-of-protein-based-cell-of-origin-classification-to-the-lymph2cx-rna-assay-in-a-cohort-of-diffuse-large-b-cell-lymphomas-in-malaysia
#14
Kean-Chang Phang, Ariz Akhter, Nur Maya Sabrina Tizen, Faridah Abd Rahman, Raja Zahratul Azma, Ghaleb Elyamany, Meer-Taher Shabani-Rad, Noraidah Masir, Adnan Mansoor
AIMS: The cell of origin (COO) based molecular characterisation into germinal centre B-cell-like (GCB) and activated B-cell-like (ABC) subtypes are central to the pathogenesis and clinical course in diffuse large B-cell lymphoma (DLBCL). Globally, clinical laboratories employ pragmatic but less than ideal immunohistochemical (IHC) assay for COO classification. Novel RNA-based platforms using routine pathology samples are emerging as new gold standard and offer unique opportunities for assay standardisation for laboratories across the world...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775173/automatic-wedge-smears-preparation-may-cause-traumatic-morphological-changes-in-peripheral-blood-cells
#15
Antonio La Gioia, Maurizio Fumi, Paola Pezzati, Fiamma Balboni, Ylenia Pancione, Lucia Rocco, Silvia Sale, Maria Bombara, Marcello Fiorini, Fabiana Fiorini, Vincenzo Rocco
In recent years, several automated analysers that prepare and stain blood smears have been introduced in clinical laboratories. Despite the use of instrumental settings based on physical characteristic of individual samples, traumatic injuries of neutrophil and lymphocytes can be observed. Some samples present a very high percentage of damaged cells, allowing the speculation that a cellular susceptibility may enhance mechanical traumatism. These artefacts can puzzle morphological evaluation in both traditional and digitised microscopy; in addition, unskilled operators can be misled...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775172/diagnostic-value-of-targeted-next-generation-sequencing-in-patients-with-suspected-pancreatic-or-periampullary-cancer
#16
Babs G Sibinga Mulder, J Sven D Mieog, Arantza Farina Sarasqueta, Henricus Jm Handgraaf, Hans F A Vasen, Rutger-Jan Swijnenburg, Saskia A C Luelmo, Shirin Feshtali, Akin Inderson, Alexander L Vahrmeijer, Bert A Bonsing, Tom van Wezel, Hans Morreau
AIMS: Radiological imaging and morphological assessment of cytology material have limitations for preoperative classification of pancreatic or periampullary lesions, often resulting in surgical resection without definitive diagnosis. Our prospective study aims to define the diagnostic value of targeted next-generation sequencing (NGS) of DNA from cytology material. METHODS: Patients with a suspect pancreatic or periampullary lesion underwent standard diagnostic evaluation including preoperative morphological cytology assessment...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28775171/gliosarcomas-with-the-braf-v600e-mutation-a-report-of-two-cases-and-review-of-the-literature
#17
Leiming Wang, Jian Sun, Zhuo Li, Li Chen, Yongjuan Fu, Lihong Zhao, Li Liu, Yukui Wei, Lianghong Teng, Dehong Lu
Gliosarcoma, which is regarded as a variant of glioblastoma, is a rare malignant neoplasm of the central nervous system. Both its sarcomatous component and glial component are reported to share significant clinical and genetic similarities. However, gliosarcomas are considered to be characterised by a lack of the BRAF V600E mutation. Here, we report two cases of gliosarcoma harbouring the BRAF V600E mutation, of which one case appears to have arisen de novo, while the other likely arose from ganglioglioma. Interestingly, the BRAF V600E mutation was detected only in the glial component in the first case, but was present in both the glial and the sarcomatous components in the recurrent gliosarcoma...
August 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28768702/tumour-front-inflammation-and-necrosis-are-independent-prognostic-predictors-in-high-grade-urothelial-carcinoma-of-the-bladder
#18
Anjelica Hodgson, Bin Xu, Raj Satkunasivam, Michelle R Downes
AIMS: Inflammation and necrosis have been associated with prognosis in multiple epithelial malignancies. Our objective was to evaluate inflammation and necrosis in a cohort of patients with high-grade urothelial carcinomas of the bladder to determine their association with pathological parameters and their prognostic effect on relapse-free and disease-specific survival. METHODS: A retrospective cohort that underwent radical cystectomy for urothelial carcinomas (n=235) was evaluated for invasive front and central inflammation using the Klintrup-Makinen assessment method...
August 2, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28768701/hb-baden-a-rare-high-affinity-haemoglobin-variant-and-its-management
#19
Joe Lee, Claire N Harrison
Haemoglobin Baden is a rare variant haemoglobin which has only recently been clinically and functionally characterised. We present the case of a young adult male patient who presented with an erythrocytosis but was clinically asymptomatic. His mother was also diagnosed retrospectively having presented with erythrocytosis being treated with regular venesections. We discuss the management plan and potential significance of being a carrier of this rare haemoglobin variant.
August 2, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28751522/liver-allograft-biopsies-with-histological-cholestasis-a-clinicopathological-study-of-254-cases-from-a-single-centre
#20
Regina Cheuk-Lam Lo, Kristy Kwan-Shuen Chan, Kenneth Siu-Ho Chok, Irene Oi-Lin Ng
AIMS: Liver allograft biopsy is important in the management of liver transplant (LT) recipients. Cholestasis is an indicator of liver dysfunction, and histological evidence of cholestasis can be observed in a wide range of pathological entities in the post-LT setting. In this study, we describe the clinicopathological features and significance of liver allograft biopsies with histological cholestasis over 11 years in our centre. METHODS: Liver allograft biopsies performed in Queen Mary Hospital, Hong Kong from 2004 to 2014 showing histological cholestasis were retrieved from the pathology archive...
July 27, 2017: Journal of Clinical Pathology
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