abstract：AIMS:Epidermal growth factor receptor (EGFR) T790M mutations can be detected in the circulating tumour DNA from plasma of patients with non-small cell lung cancer (NSCLC) to triage patients for osimertinib eligibility and monitor patients longitudinally for development of T790M-mediated resistance. METHODS:Using dropl...

journal_title：Journal of clinical pathology

authors： Spence T,Perera S,Weiss J,Grenier S,Ranich L,Shepherd F,Stockley TL

更新日期：2021-02-01 00:00:00

abstract：AIMS:EGFR tyrosine kinase inhibitors (TKIs) are first-line molecularly targeted therapies in patients with advanced non-small cell lung cancer (NSCLC) who carry sensitising EGFR mutations, due to its superior survival outcomes compared with conventional chemotherapy regimens. In this study, we sought to identify clinic...

journal_title：Journal of clinical pathology

authors： Ng IK,Kumarakulasinghe NB,Syn NL,Soo RA

更新日期：2021-02-01 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

authors： Uranga A,González C,Furundarena JR,Robado N,Rey M,Aragon L,Urreta I,Aranbarri A,De Juan MD,Araiz M

更新日期：2021-01-21 00:00:00

abstract：:TLE 1 is the human homologue belonging to a family of four genes and is located on chromosome 9q21. It consists of 19 exons. Although it does not bind directly to DNA, it acts as a repressor of several signalling pathways via transcription factors. TLE1 protein has several physiological roles in embryogenesis, haemato...

journal_title：Journal of clinical pathology

authors： Pinto K,Chetty R

更新日期：2021-01-13 00:00:00

abstract：AIMS:The histopathological diagnosis of low-grade dysplasia (LGD) in Barrett's oesophagus (BO) is associated with poor interobserver agreement and guidelines dictate expert review. To facilitate nationwide expert review in the Netherlands, a web-based digital review panel has been set up, which currently consists of ei...

journal_title：Journal of clinical pathology

authors： Klaver E,van der Wel M,Duits L,Pouw R,Seldenrijk K,Offerhaus J,Visser M,Ten Kate F,Biermann K,Brosens L,Doukas M,Huysentruyt C,Karrenbeld A,Kats-Ugurlu G,van der Laan J,van Lijnschoten I,Moll F,Ooms A,Tijssen J,Meij

更新日期：2021-01-01 00:00:00

abstract：AIMS:Positive direct antiglobulin tests (DATs) are valuable in identifying the aetiology of autoimmune haemolysis and in guiding therapeutic intervention. However, in HIV-positive individuals with background polyclonal gammopathy, a positive DAT in the absence of haemolysis is common. In this setting, IgG quantificatio...

journal_title：Journal of clinical pathology

authors： Chetty T,Bouwer N,Wan YO,Mahlangu J

更新日期：2020-12-16 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

authors： Patel SB,McCormack C,Hodge JC

更新日期：2020-12-01 00:00:00

abstract：:Here, we report the pathological findings of nine complete autopsies of individuals who died in community settings in the UK, three of which were positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), three tested negative for SARS-CoV-2 but are likely false negatives, and three died of other respi...

journal_title：Journal of clinical pathology

authors： Youd E,Moore L

更新日期：2020-12-01 00:00:00

abstract：:Transmembrane serine protease 2 is encoded by the TMPRSS2 gene. The gene is widely conserved and has two isoforms, both being autocatalytically activated from the inactive zymogen form. A fusion gene between the TMPRSS2 gene and ERG (erythroblast-specific-related gene), an oncogenic transcription factor, is the most c...

journal_title：Journal of clinical pathology

authors： Thunders M,Delahunt B

更新日期：2020-12-01 00:00:00

abstract：:In an era when immunohistochemistry (IHC) is increasingly depended on for histological subtyping, and IHC-determined biomarker informing rapid treatment choices is on the horizon; reproducible, quantifiable techniques are required. This study aimed to compare automated IHC scoring to quantify 6 DNA damage response pro...

journal_title：Journal of clinical pathology

authors： Gentles L,Howarth R,Lee WJ,Sharma-Saha S,Ralte A,Curtin N,Drew Y,O'Donnell RL

更新日期：2020-11-19 00:00:00

abstract：OBJECTIVE:To compare the whole genomes sequencing (WGS) results in the 100K Genomes project with the results of routine molecular diagnostics in precision medicine. MATERIALS AND METHODS:We analysed 374 cancers including a high tumour mutational burden (TMB-high) subgroup, defined as >10 non-synonymous single nucleoti...

journal_title：Journal of clinical pathology

authors： Echejoh G,Liu Y,Chung-Faye G,Charlton J,Moorhead J,Clark B,Davidson P,Sarker D,Ross P,Ooft ML

更新日期：2020-10-29 00:00:00

abstract：AIMS:Mitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to describe the genetics underlying mitochondrial disease in South Africa. ...

journal_title：Journal of clinical pathology

authors： Meldau S,Owen EP,Khan K,Riordan GT

更新日期：2020-10-28 00:00:00

abstract：:Clinical trials have shown that many patients with breast cancer with limited sentinel lymph node (SLN) metastatic disease can safely avoid axillary lymph node dissection. Ultra-staging of initially negative SLNs may not confer additional clinical benefit. Despite this, protocols of 'enhanced pathological examination'...

journal_title：Journal of clinical pathology

authors： Murray C,Al Shehhi A,Ó'Riain C,Dunne B,Maguire A

更新日期：2020-10-22 00:00:00

abstract：OBJECTIVE:We explore factors such as the blood sampling site (capillary vs venous), the equipment (HemoCue vs automated haematology analyser) and the model of the HemoCue device (201+ vs 301) that may impact haemoglobin measurements in capillary and venous blood. METHODS:Eleven studies were identified, and bias, conco...

journal_title：Journal of clinical pathology

authors： Rappaport AI,Karakochuk CD,Hess SY,Whitehead RD Jr,Namaste SML,Dary O,Parker ME,Neufeld LM,Larson LM,Newton S,Wegmuller R,Moorthy D

更新日期：2020-10-06 00:00:00

abstract：AIM:The immunoproteasome is a specific proteasome isoform whose proteolytic activity enhances the generation of antigenic peptides to be presented by major histocompatibility complex class I molecules to CD8+ T cells. Physiologically, it is expressed abundantly in immune cells and is induced in somatic cells by cytokin...

journal_title：Journal of clinical pathology

authors： Kiuchi T,Tomaru U,Ishizu A,Imagawa M,Iwasaki S,Suzuki A,Otsuka N,Ohhara Y,Kinoshita I,Matsuno Y,Dosaka-Akita H,Kasahara M

更新日期：2020-09-17 00:00:00

abstract：AIMS:Optical microscopic (OM) evaluation of peripheral blood (PB) cells is still a crucial step of the laboratory haematological workflow. The morphological cell analysis is time-consuming and expensive and it requires skilled operator. To address these challenges, automated image-processing systems, as digital morphol...

journal_title：Journal of clinical pathology

authors： Da Rin G,Benegiamo A,Di Fabio AM,Dima F,Francione S,Fanelli A,Germagnoli L,Lorubbio M,Marzoni A,Pajola R,Pipitone S,Rolla R,Seghezzi M,Baigorria Vaca MDC,Bartolini A,Buoro S

更新日期：2020-09-14 00:00:00

abstract：AIMS:Diffuse large B-cell lymphoma (DLBCL) is the most common type of aggressive non-Hodgkin's lymphoma that represents a heterogeneous group of disease that is differentially characterised by clinical, molecular and cytogenetic features. MYC, BCL2 and BCL6 gene rearrangements have been identified as prognostic factors...

journal_title：Journal of clinical pathology

authors： Tourneret A,Alame M,Rigau V,Bauchet L,Fabbro M,De Oliveira L,Cacheux V,Costes V,Lacheretz-Szablewski V

更新日期：2020-09-10 00:00:00

abstract：AIMS:Next Generation Sequencing (NGS)-based BRCA tumour tissue testing poses several challenges. As a first step of its implementation within a regional health service network, an in-house validation study was compared with published recommendations. METHODS:Epithelial ovarian cancer (EOC) formalin-fixed paraffin-embe...

journal_title：Journal of clinical pathology

authors： Rivera D,Paudice M,Gismondi V,Anselmi G,Vellone VG,Varesco L,Ligurian BRCA Working Group.

更新日期：2020-09-07 00:00:00

abstract：:Dilated cardiomyopathy (DCM) represents a common genetic cause of mechanical and/or electrical dysfunction leading to heart failure (HF) onset for which truncating variants in titin (TTN) gene result in the most frequent mutations. Moreover, myocyte and endothelial cell apoptosis is a key endophenotype underlying card...

journal_title：Journal of clinical pathology

authors： Mansueto G,Benincasa G,Della Mura N,Nicoletti GF,Napoli C

更新日期：2020-09-01 00:00:00

abstract：:Cancer lineage/tissue-of-origin assignment in cancers of unknown primary remains a challenge even when aided by massively parallel sequencing. The stakes are high for patients as many contemporary therapeutic strategies are disease-specific, and the biological differences can influence the patients' responses. Herein,...

journal_title：Journal of clinical pathology

authors： Yoon JY,Rosenbaum JN,Vergara N,Cohen RB,Wilson RB

更新日期：2020-08-27 00:00:00

abstract：AIMS:Sinusoidal dilatation and congestion (SDC) in liver biopsy may be obstructive (due to venous outflow impairment) or non-obstructive in nature. The significance of this finding in the post-liver transplant setting remains unexplored. METHODS:We herein retrospectively analysed all post-transplant liver biopsies sho...

journal_title：Journal of clinical pathology

authors： Bakshi N,Rastogi A,Pamecha V,Bihari C

更新日期：2020-08-24 00:00:00

abstract：:During the last decade, a dramatic rise in the development and application of artificial intelligence (AI) tools for use in pathology services has occurred. This trend is often expected to continue and reshape the field of pathology in the coming years. The deployment of computational pathology and applications of AI ...

journal_title：Journal of clinical pathology

authors： Rakha EA,Toss M,Shiino S,Gamble P,Jaroensri R,Mermel CH,Chen PC

更新日期：2020-08-06 00:00:00

abstract：AIM:The aim of this study was to evaluate the risk factors for proximal resection margin involvement and its impact on survival outcome in patients with proximal gastric cancer. METHODS:A total of 488 patients who underwent potentially curative resection for proximal gastric cancer were retrospectively reviewed. Clini...

journal_title：Journal of clinical pathology

authors： Zhao B,Lu H,Bao S,Luo R,Mei D,Xu H,Huang B

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND/AIMS:The programmed cell death receptor 1 (PD-1) checkpoint inhibitor, nivolumab, has been approved for the treatment of metastatic renal cell carcinoma (RCC). However, the understanding of the expression and distribution of PD ligand 1 (PD-L1) in the tumour immune microenvironment and its prognostic role in...

journal_title：Journal of clinical pathology

authors： Yeong J,Zhao Z,Lim JCT,Li H,Thike AA,Koh VCY,Teh BT,Kanesvaran R,Toh CK,Tan PH,Khor LY

更新日期：2020-08-01 00:00:00

abstract：AIMS:Lung cancer predictive biomarker testing is essential to select advanced-stage patients for targeted treatments and should be carried out without delays even during health emergencies, such as the coronavirus (COVID-19) outbreak. METHODS:Fifteen molecular laboratories from seven different European countries compa...

journal_title：Journal of clinical pathology

authors： Malapelle U,Pisapia P,Iaccarino A,Barberis M,Bellevicine C,Brunnström H,de Biase D,De Maglio G,Ericson Lindquist K,Fassan M,Fontanini G,Gruppioni E,Hofman P,Merkelbach-Bruse S,Molina Vila MA,Pujals A,Rapa I,Righi L,Ro

更新日期：2020-07-31 00:00:00

abstract：:There is growing evidence of histopathological changes in autopsied individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2); however, data on histopathological changes in autopsied patients with eradicated COVID-19 are limited. We performed an autopsy on a Caucasian female in her 80s, wh...

journal_title：Journal of clinical pathology

authors： Schwensen HF,Borreschmidt LK,Storgaard M,Redsted S,Christensen S,Madsen LB

更新日期：2020-07-28 00:00:00

abstract：:Numerous clinical pathology departments are deploying or planning to deploy digital pathology systems for all or part of their diagnostic output. Digital pathology is an evolving technology, and it is important that departments uphold or improve on current standards. Leeds Teaching Hospitals NHS Trust has been scannin...

journal_title：Journal of clinical pathology

authors： Williams BJ,Treanor D

更新日期：2020-07-01 00:00:00

abstract：AIMS:Inflammatory bowel disease (IBD)-associated precancerous lesions may be adenomatous or non-adenomatous with various histomorphologies. We aim to validate the newly proposed classification, to explore the neoplastic nature of the non-adenomatous lesions and to elucidate the molecular mechanisms underlying the diffe...

journal_title：Journal of clinical pathology

authors： Gui X,Köbel M,Ferraz JG,Iacucci M,Ghosh S,Liu S,Ou Y,Perizzolo M,Winkfein RJ,Rambau P,Demetrick DJ

更新日期：2020-07-01 00:00:00

abstract：AIMS:Congenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a deficiency of mature neutrophils. They are usually caused by heterozygous ELANE mutations although mutations in other genes like HAX-1, G6PC3 and GFI1 have also been reported. Identifyi...

journal_title：Journal of clinical pathology

authors： Arunachalam AK,Suresh H,Edison ES,Korula A,Aboobacker FN,George B,Shaji RV,Mathews V,Balasubramanian P

更新日期：2020-06-01 00:00:00

abstract：AIMS:In the time of COVID-19, predictive molecular pathology laboratories must still timely select oncological patients for targeted treatments. However, the need to respect social distancing measures may delay results generated by laboratory-developed tests based on sequential steps a long hands-on time. Laboratory wo...

journal_title：Journal of clinical pathology

authors： Malapelle U,De Luca C,Iaccarino A,Pepe F,Pisapia P,Russo M,Sgariglia R,Nacchio M,Vigliar E,Bellevicine C,Schmitt FC,Troncone G

更新日期：2020-05-19 00:00:00

abstract：AIMS:The aim of this study was to evaluate the mismatch repair gene expression and their correlation with NF-kB in patients with oral squamous cell carcinoma (SCC). METHODS:Total RNA was isolated from 28 biopsy samples. A control group was composed of 20 volunteers. Differential expression of hMSH2, hMSH6 and NF-kB ge...

journal_title：Journal of clinical pathology

authors： Fonseca A,Perez M,Veiga G,Prosdócimi F,Nunes F,Bianco B,Fonseca F,Alves B

更新日期：2020-05-01 00:00:00

abstract：AIM:The prognostic significance of perineural invasion (PNI) in oesophageal adenocarcinoma (EAC) is unclear. We examined the association of PNI with clinical outcomes in patients treated with neoadjuvant chemoradiotherapy (nCRT) and surgery. METHODS:We performed a single institutional retrospective study. We evaluated...

journal_title：Journal of clinical pathology

authors： Patel AK,Pan X,Vila DM,Frankel WL,Chen W,Perry KA,Merritt RE,D'Souza DM,Wuthrick EJ,Williams TM

更新日期：2020-04-21 00:00:00

abstract：INTRODUCTION:The role of single mutations has been extensively studied myelodysplastic syndromes (MDS), but the impact of genetic aberrations in the context of other mutations is less well understood. BCOR is an epigenetic transcriptional corepressor. In MDS, BCOR mutations are rare and certain mutations are associated...

journal_title：Journal of clinical pathology

authors： Badaat I,Mirza S,Padron E,Sallman D,Komrokji R,Song J,Hussaini MO

更新日期：2020-04-01 00:00:00

abstract：:The coronavirus disease 2019 (COVID-19) is a zoonotic viral infection originating from Wuhan, China in December 2019. The World Health Organization has classified this pandemic as a global health emergency due to its virulent nature of transmission, which may lead to acute respiratory distress syndrome. Singapore's he...

journal_title：Journal of clinical pathology

authors： Tan SS,Yan B,Saw S,Lee CK,Chong AT,Jureen R,Sethi S

更新日期：2020-03-20 00:00:00

abstract：AIMS:The cell block technique for assessing endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) specimens from pancreatic mucinous cystic lesions (MCLs) was systematically evaluated for the first time, including comparisons with three traditional methods of assessing such specimens. METHODS:The prospective a...

journal_title：Journal of clinical pathology

authors： Wong NACS,Gwiti P,Murigu T,Melegh Z,Beavers S,Gordon F,Alexandridis E,Norton S

更新日期：2020-02-01 00:00:00

abstract：OBJECTIVE:Cutaneous squamous cell carcinoma (cSCC) is the second most common malignancy, most frequently affecting the head and neck. Treatment often requires surgery and can have significant functional morbidity. Research into disease pathogenesis and second line medical management of cSCC is limited. We assess geneti...

journal_title：Journal of clinical pathology

authors： Zilberg C,Lee MW,Kraitsek S,Ashford B,Ranson M,Shannon K,Iyer NG,Ch'ng S,Low TH,Palme C,Clark J,Gupta R,Yu B

更新日期：2020-01-01 00:00:00

abstract：:Phosphate in both inorganic and organic form is essential for several functions in the body. Plasma phosphate level is maintained by a complex interaction between intestinal absorption, renal tubular reabsorption, and the transcellular movement of phosphate between intracellular fluid and bone storage pools. This home...

journal_title：Journal of clinical pathology

authors： Leung J,Crook M

更新日期：2019-11-01 00:00:00

abstract：:SF3B1 is the largest subunit of the Spliceosome Factor 3b (SF3B) complex and part of the U2 small nuclear ribosomal protein. It functions as an important part of spliceosomal assembly, converting precursor messenger RNA (mRNA) to mRNA ready for ribosomal translation. Mutations of SF3B1 are commonly seen in myelodyspla...

journal_title：Journal of clinical pathology

authors： Foy A,McMullin MF

更新日期：2019-11-01 00:00:00

abstract：AIM:The rapid and fully automated Idylla EGFR Mutation Assay has been specifically designed to process formalin-fixed, paraffin-embedded sections without requiring preliminary DNA extraction. This study evaluates whether this approach can also process archival smears from patients with non-small cell lung cancer (NSCLC...

journal_title：Journal of clinical pathology

authors： De Luca C,Conticelli F,Leone A,Gragnano G,Salatiello M,Galasso P,Pisapia P,Grillo LR,Iaccarino A,Vigliar E,Bellevicine C,Malapelle U,Troncone G

更新日期：2019-09-01 00:00:00

abstract：AIMS:Heightened B-cell receptor (BCR) activity in diffuse large B-cell lymphoma (DLBCL) is well established, and a subset of patients with relapsed DLBCL can benefit from BCR-targeted therapies. Universal outreach of such emerging therapies mandates forming a global landscape of BCR molecular signalling in DLBCL, inclu...

journal_title：Journal of clinical pathology

authors： Masir N,Akhter A,Roshan TM,Florence CS,Abdul-Rahman F,Tumian NR,Kean-Chang P,Elyamany G,Shabani-Rad MT,Mansoor A

更新日期：2019-09-01 00:00:00