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Journal of Clinical Pathology

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https://www.readbyqxmd.com/read/28428285/characterisation-of-gata3-expression-in-invasive-breast-cancer-differences-in-histological-subtypes-and-immunohistochemically-defined-molecular-subtypes
#1
Tang Shaoxian, Yu Baohua, Xu Xiaoli, Cheng Yufan, Tu Xiaoyu, Lu Hongfen, Bi Rui, Sun Xiangjie, Shui Ruohong, Yang Wentao
AIMS: GATA-binding protein 3 (GATA3) is a sensitive and relatively specific marker in breast and urothelial carcinomas. Its diagnostic utility in primary and metastatic breast cancers has been explored and confirmed. However, the relationship between GATA3 expression and different breast carcinoma intrinsic subtypes has not been specifically defined in the literature despite a few reports with a small number of cases. The aim of the current investigation is to clarify GATA3 expression among different histological subtypes and surrogate molecular breast carcinoma subtypes in a large series of cases...
April 20, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28428284/acute-presentation-of-autoimmune-hepatitis-a-multicentre-study-with-detailed-histological-evaluation-in-a-large-cohort-of-patients
#2
Hiep Nguyen Canh, Kenichi Harada, Hirofumi Ouchi, Yasunori Sato, Koichi Tsuneyama, Masayoshi Kage, Masayuki Nakano, Kaname Yoshizawa, Atsushi Takahashi, Masanori Abe, Jong-Hon Kang, Kazuhiko Koike, Ayano Inui, Tomoo Fujisawa, Akinobu Takaki, Teruko Arinaga-Hino, Takuji Torimura, Yoshiyuki Suzuki, Keiichi Fujiwara, Mikio Zeniya, Hiromasa Ohira, Atsushi Tanaka, Hajime Takikawa
AIMS: Although liver biopsy is crucial to diagnose and guide treatment decisions, a detailed histological analysis of autoimmune hepatitis (AIH) with clinically acute presentations has not yet been performed. This study aimed to characterise the histological features and explore potential histological hallmarks to diagnose the acute presentation of AIH. METHODS: We systematically evaluated liver specimens of 87 adult patients with acute presentation of AIH retrospectively enrolled from Japanese multicentre facilities...
April 20, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28424237/absence-of-smad9-v90m-mutation-in-juvenile-polyposis-syndrome
#3
LETTER
Lysanne D C Graafmans, Folkert H M Morsink, G Johan A Offerhaus, Francis M Giardiello, Lodewijk A A Brosens
No abstract text is available yet for this article.
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28424236/hyalinizing-trabecular-tumour-of-the-thyroid-fine-needle-aspiration-cytological-diagnosis-and-correlation-with-histology
#4
REVIEW
Chiara Saglietti, Simonetta Piana, Stefano La Rosa, Massimo Bongiovanni
Hyalinizing trabecular tumour (HTT) is a rare thyroid neoplasm of follicular cell origin characterised by a trabecular growth pattern and prominent intratrabecular and intertrabecular hyalinisation. These peculiar histological features allow the prompt recognition of this neoplasm in surgical specimens. However, cytological diagnosis of HTT remains elusive and misleading because of overlapping characteristics with other thyroid tumours, particularly papillary thyroid carcinoma (PTC), medullary thyroid carcinoma (MTC) and the newly described non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)...
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28424235/increased-alloimmunisation-and-transfusion-reaction-reporting-in-patients-with-solid-phase-panreactivity
#5
Andrea M Olofson, Rachael M Chandler, Cynthia R Marx-Wood, Craig A Babcock, Nancy M Dunbar
BACKGROUND: Automated solid-phase antibody screening uses red blood cell (RBC) membranes immobilised on polystyrene test wells to detect RBC specific antibodies. Despite its time-saving and labour-saving benefits, this method produces a higher rate of nonspecific reactivity compared with manual screening. Solid-phase panreactivity (SPP) is characterised by panreactivity (ie, all test cells reacting) in solid-phase testing accompanied by a negative autocontrol and a lack of reactivity when the same screening cells are tested in tube...
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28424234/braf-v600-mutation-detection-in-melanoma-a-comparison-of-two-laboratory-testing-methods
#6
Odharnaith O'Brien, Tomas Lyons, Sandra Murphy, Linda Feeley, Derek Power, Cynthia C B B Heffron
AIMS: The assessment of B-raf proto-oncogene, serine/threonine kinase (BRAF) gene status is now standard practice in patients diagnosed with metastatic melanoma with its presence predicting a clinical response to treatment with BRAF inhibitors. The gold standard in determining BRAF status is currently by DNA-based methods. More recently, a BRAF V600E antibody has been developed. We aim to investigate whether immunohistochemical detection of BRAF mutation is a suitable alternative to molecular testing by polymerase chain reaction (PCR)...
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28416641/unusual-presentation-of-a-skin-rash
#7
Rajendra Singh, David Teranno
No abstract text is available yet for this article.
April 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28416640/microsatellite-analysis-of-sporadic-and-hereditary-gynaecological-cancer-in-routine-diagnostics
#8
Laura Libera, Nora Sahnane, Ileana Wanda Carnevali, Laura Cimetti, Roberta Cerutti, Anna Maria Chiaravalli, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Daniela Furlan
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, were analysed for MSI by a mononucleotide repeats pentaplex (MRP). We identified 13 ambiguous cases that did not fully meet MSI criteria ('borderline' cases, B-MSI), which were mainly represented by MSH2/MSH6-deficient and Lynch syndrome cases...
April 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28416639/absent-progesterone-receptor-expression-in-the-lymph-node-metastases-of-er-positive-her2-negative-breast-cancer-is-associated-with-relapse-on-tamoxifen
#9
Cameron E Snell, Madeline Gough, Kathryn Middleton, Michael Hsieh, Lauren Furnas, Brenton Seidl, Kristen Gibbons, Christopher Pyke, Catherine Shannon, Natasha Woodward, Jane E Armes
AIMS: Progesterone receptor (PR) expression is prognostic in early stage breast cancer. There are several reports of discordant expression between primary tumour and axillary lymph node (ALN) metastasis expression of oestrogen receptor (ER) and PR. We sought to determine whether expression of these biomarkers in the synchronous ALN metastases of ER positive (+), HER2 negative (-) breast cancer could provide more accurate prognostic information. METHODS: The retrospective cohort included 229 patients from a single institution with ER+, HER2- breast cancer who had synchronous ALN metastatic disease (2005-2014)...
April 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28408436/cyclin-d1-overexpression-in-proliferation-centres-of-small-lymphocytic-lymphoma-chronic-lymphocytic-leukaemia
#10
Larissa Sena Teixeira Mendes, Natalie Peters, Ayoma D Attygalle, Andrew Wotherspoon
The recent publication reviewing the updated WHO classification commented on the presence of cyclin D1-positive cells in the proliferation centres (PC) of small lymphocytic lymphoma/chronic lymphocytic leukaemia (SLL/CLL). The figure quoted was 30%, which appeared higher than our experience. To assess cyclin D1 expression in PC of SLL/CLL cases, we performed a review of SLL/CLL cases diagnosed at the Royal Marsden Hospital between 1996 and 2009. Of 105 SLL/CLL cases, 16.2% showed expression of cyclin D1 in PC with none carrying the translocation t(11;14)(q13;q32)...
April 13, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28404817/hypoxia-inducible-factor-1%C3%AE-predicts-recurrence-in-high-grade-soft-tissue-sarcoma-of-extremities-and-trunk-wall
#11
H Nyström, M Jönsson, L Werner-Hartman, M Nilbert, A Carneiro
BACKGROUND AND AIM: Sarcomas are of mesenchymal origin and typically show abundant tumour stroma and presence of necrosis. In search for novel biomarkers for personalised therapy, we determined the prognostic impact of stromal markers, hypoxia and neovascularity in high-grade soft tissue leiomyosarcoma and pleomorphic undifferentiated sarcoma. METHOD: We evaluated CD163, colony-stimulating factor (CSF)-1, CD16 and hypoxia-inducible factor 1 (HIF-1)α using immunohistochemical staining and assessed microvessel density using CD31 in 73 high-grade leiomyosarcomas and undifferentiated pleomorphic sarcomas of the extremities and the trunk wall...
April 12, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28400468/the-diagnostic-value-of-hyperammonaemia-induced-by-the-non-ischaemic-forearm-exercise-test
#12
Jean-Yves Hogrel, Jorien B E Janssen, Isabelle Ledoux, Gwenn Ollivier, Anthony Béhin, Tanya Stojkovic, Bruno Eymard, Nicol C Voermans, Pascal Laforet
AIMS: The non-ischaemic forearm exercise test (NIFET) is used as a diagnostic tool for the screening of patients with exercise intolerance and for the diagnosis of various metabolic muscle disorders. The production of lactate and ammonia are generally analysed to guide the diagnosis. The aim of this retrospective study was to determine the level of ammonia rise, which can be suggestive of a muscle disease. METHODS: This retrospective study involved 1440 patients who underwent NIFET...
April 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28400467/use-of-the-genereader-ngs-system-in-a-clinical-pathology-laboratory-a-comparative-study
#13
Ulrike Koitzsch, Carina Heydt, Hans Attig, Isabelle Immerschitt, Sabine Merkelbach-Bruse, Alessandro Fammartino, Reinhard H Büttner, Yi Kong, Margarete Odenthal
Despite its successful use in academic research, next-generation sequencing (NGS) still represents many challenges for routine clinical adoption due to its inherent complexity and specialised expertise typically required to set-up, test and operate a complete workflow.This study aims to evaluate QIAGEN's newly launched GeneReader NGS System solution in a pathology laboratory setting by assessing the system's ease of use, sequencing accuracy and data reproducibility. Our laboratory was able to implement the system and validate its performance using clinical samples in direct comparison to an approved Sanger sequencing platform and to an alternative in-house NGS technology...
April 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28396386/contradictory-coroners-decision-making-in-death-investigations
#14
Maxwell Mclean
AIM: National coroner data demonstrate differences in the rates at which coroners across England and Wales choose to investigate reported deaths and the frequency by which they record certain conclusions. This study sought to examine how decisions are made by coroners and whether they differed when faced with identical case information. METHODS: Three different clinical scenarios were circulated via a web link to all senior coroners. The case information was contained within a 'Decision Board' displayed on screen...
April 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28389441/diagnostic-accuracy-of-endometrial-biopsy-in-relation-to-the-amount-of-tissue
#15
Casper Reijnen, Nicole Cm Visser, Johan Bulten, Leon Fag Massuger, Louis Jm van der Putten, Johanna Ma Pijnenborg
AIMS: For the diagnostic workup of postmenopausal bleeding, histological examination of the endometrium is frequently performed. Failure of endometrial sampling due to insufficient material is often reported but objective criteria for quality assessment of endometrial biopsies are lacking. The aim of the present study is to evaluate the association between the amount of tissue obtained by endometrial sampling and the diagnostic accuracy, and to establish a cut-off level for a minimal amount of tissue required for a conclusive diagnosis...
April 7, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28389440/haematological-cancers-improving-outcomes-a-summary-of-updated-nice-service-guidance-in-relation-to-specialist-integrated-haematological-malignancy-diagnostic-services-sihmds
#16
John A Snowden, Susan O'Connell, James Hawkins, Chris Dalley, Andrew Jack, Deepak Mannari, Chris McNamara, Mike Scott, Geoff Shenton, Elizabeth Soilleux, Fergus Macbeth
Haematological malignancies are a diverse group of cancers that affect the blood, bone marrow and lymphatic systems. Laboratory diagnosis of haematological malignancies is dependent on combining several technologies, including morphology, immunophenotyping, cytogenetics and molecular genetics correlated clinical details and classification according to the current WHO guidelines. The concept of the Specialised Integrated Haematological Malignancy Diagnostic Services (SIHMDS) has evolved since the UK National Institute for Health and Care Excellence (NICE) Improving Outcomes Guidance (IOG) in 2003 and subsequently various models of delivery have been established...
April 7, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28389439/haematological-cancers-improving-outcomes-a-summary-of-updated-nice-service-guidance-in-relation-to-specialist-integrated-haematological-malignancy-diagnostic-services-sihmds
#17
LETTER
https://www.readbyqxmd.com/read/28385924/genotypic-analysis-of-tropheryma-whipplei-from-patients-with-whipple-disease-in-the-americas
#18
Dominique C Rollin, Christopher D Paddock, Bobbi S Pritt, Scott A Cunningham, Amy M Denison
Tropheryma whipplei, the agent of Whipple disease, causes a rare bacterial disease that may be fatal if not treated. The classical form of the disease includes diarrhoea, weight loss, arthritis, endocarditis and neurological manifestations. Genotyping studies done in Europe, Africa and Asia showed high genetic diversity with no correlation between genotypes and clinical features, but contributed to a better understanding of the epidemiology of the disease. More than 70 genotypes have been described. No similar assessment of T...
April 6, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28385923/phenotype-of-mutations-in-the-promoter-region-of-the-%C3%AE-globin-gene
#19
Paloma Ropero, Sara Erquiaga, Beatriz Arrizabalaga, Germán Pérez, Silvia de la Iglesia, María José Torrejón, Celia Gil, Cela Elena, María Tenorio, Jorge M Nieto, Félix de la Fuente-Gonzalo, Ana Villegas, Fernando-Ataúlfo González Fernández, Rafael Martínez
BACKGROUND: β(+)-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far...
April 6, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28385922/multiplex-digital-colour-coded-barcode-technology-on-rna-extracted-from-routine-cytological-samples-of-patients-with-non-small-cell-lung-cancer-pilot-study
#20
Roberta Sgariglia, Pasquale Pisapia, Mariantonia Nacchio, Caterina De Luca, Francesco Pepe, Maria Russo, Claudio Bellevicine, Giancarlo Troncone, Umberto Malapelle
In the advanced stages of non-small cell lung cancer (NSCLC), molecular testing is often performed on archival cytological smears. The nCounter system (NanoString Technologies) is a new promising multiplex digital colour-coded barcode technology. However, its feasibility to evaluate the RNA expression of clinical relevant biomarkers on routine cytological smears is still uncertain. To this end, RNA was extracted from 12 NSCLC routine stained cytological smears, and nCounter analysis performed by using a 48-gene panel...
April 6, 2017: Journal of Clinical Pathology
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