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Journal of Clinical Pathology

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https://www.readbyqxmd.com/read/28213561/primary-care-requests-for-anaemia-chemistry-tests-in-spain-potential-iron-transferrin-and-folate-over-requesting
#1
Maria Salinas, Maite López-Garrigós, Emilio Flores, Carlos Leiva-Salinas
AIM: To study the regional variability of requests for anaemia chemistry tests in primary care in Spain and the associated economic costs of potential over-requesting. METHODS: Requests for anaemia tests were examined in a cross-sectional study. Clinical laboratories from different autonomous communities (AACCs) were invited to report on primary care anaemia chemistry tests requested during 2014. Demand for iron, ferritin, vitamin B12 and folate tests per 1000 inhabitants and the ratios of the folate/vitamin B12 and transferrin/ferritin requests were compared between AACCs...
February 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28209662/the-impact-of-between-analytical-platform-variability-on-the-classification-of-pleural-effusions-into-exudate-or-transudate-using-light-s-criteria
#2
Michael P Cornes, Andrew J Chadburn, Claire Thomas, Catherine Darby, Rachel Webster, Clare Ford, Rousseau Gama
BACKGROUND: Light's criteria are ratios of pleural fluid to serum total protein (TP), pleural fluid to serum lactate dehydrogenase (LDH) and pleural fluid LDH to the upper reference limit for serum LDH. They are used to classify pleural effusions into an exudate or transudate when pleural fluid protein is 25-35 g/L. We evaluated the impact of between analytical platforms on the classification of pleural effusions using Light's criteria. METHODS: Light's criteria were used to classify pleural effusions with fluid TP between 25 and 35 g/L into exudate and transudate...
February 16, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28202495/expression-of-grk2-and-igf1r-in-hepatocellular-carcinoma-clinicopathological-and-prognostic-significance
#3
Song-Bai Lin, Li Zhou, Zhi-Yong Liang, Wei-Xun Zhou, Ye Jin
AIM: It has been shown that G-protein-coupled receptor kinase 2 (GRK2) negatively regulates the insulin-like growth factor 1 receptor (IGF1R) signalling pathway in hepatocellular carcinoma (HCC). The aim of this study was to evaluate the clinicopathological and prognostic significance of GRK2 and IGF1R in HCC. METHODS: Expression of GRK2 and IGF1R was first detected by tissue microarray-based immunohistochemistry in 156 patients with HCC. Staining results, termed the H-score, were then correlated with clinicopathological variables and patient survival...
February 15, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28183782/telomere-maintenance-in-soft-tissue-sarcomas
#4
REVIEW
Nicholas Eastley, Barbara Ottolini, Carmen Garrido, Jacqueline A Shaw, Thomas Alasdair McCulloch, Robert U Ashford, Nicola J Royle
Soft tissue sarcomas (STS) are a diverse group of heterogeneous malignant tumours derived from mesenchymal tissues. Over 50 different STS subtypes are recognised by WHO, which show a wide range of different biological behaviours and prognoses. At present, clinicians managing this complex group of tumours face several challenges. This is reflected by the relatively poor outcome of patients with STSs compared with many other solid malignant tumours. These include difficulties securing accurate diagnoses, a lack of effective systemic treatments and absence of any sensitive circulating biomarkers to monitor patients throughout their treatment and follow-up...
February 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28183781/aligning-the-flow-cytometric-evaluation-with-the-diagnostic-need-an-evidence-based-approach
#5
Dawn Williams-Voorbeijpel, Francisco Sanchez, Christine G Roth
AIMS: Elimination of non-value added testing without compromising high-quality clinical care is an important mandate for laboratories in a value-based reimbursement system. The goal of this study was to determine the optimal combination of flow cytometric markers for a screening approach that balances efficiency and accuracy. METHODS: An audit over 9 months of flow cytometric testing was performed, including rereview of all dot plots from positive cases. RESULTS: Of the 807 cases in which leukaemia/lymphoma testing was performed, 23 were non-diagnostic and 189 represented bronchoalveolar lavage specimens...
February 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28167490/a-snake-in-the-grass
#6
Rhiannon Trefor, Murali Varma
A 77-year-old man presented with haematuria. Cystoscopy revealed a papillary tumour in the trigone region of the bladder. A TURBT was performed. Review the high-quality, interactive digital Aperio slide at http://virtualacp.com/JCPCases/jclinpath-2016-204015 and consider your diagnosis. WHAT IS YOUR DIAGNOSIS?: Urothelial carcinoma pTaUrothelial carcinoma pT1Metastatic carcinomaProstatic adenocarcinomaProstatic polyp.
February 6, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28159767/ticagrelor-reversal-in-vitro-assessment-of-four-haemostatic-agents
#7
Leyla Calmette, Anne-Céline Martin, Bernard Le Bonniec, Diane Zlotnik, Isabelle Gouin-Thibault, Christilla Bachelot-Loza, Pascale Gaussem, Anne Godier
AIM: Management of ticagrelor-induced bleeding is challenging as platelet transfusion is ineffective. An effective strategy is needed. This study aimed to investigate in vitro the efficacy of four haemostatic drugs (HDs), namely recombinant activated factor VII (rFVIIa), fibrinogen concentrate (Fib), tranexamic acid (TXA) and factor XIII concentrate (FXIII) to improve the haemostatic capacity in the presence of ticagrelor. METHODS: Blood was spiked with ticagrelor then supplemented by either HD or control...
February 3, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28153953/evaluation-of-a-fast-and-fully-automated-platform-to-diagnose-egfr-and-kras-mutations-in-formalin-fixed-and-paraffin-embedded-non-small-cell-lung-cancer-samples-in-less-than-one-day
#8
Laetitia Lambros, Charline Caumont, Briac Guibourg, Fanny Barel, Isabelle Quintin-Roué, Pascale Marcorelles, Jean-Philippe Merlio, Arnaud Uguen
AIMS: Searching for EGFR and KRAS mutations within non-small cell lung carcinoma (NSCLC) samples remains time-consuming and can delay treatment choices in patients with acute deterioration. We evaluated the performances of the fully automated Idylla platform to quickly detect these mutations in NSCLC samples. METHODS: We used the Idylla EGFR Mutation Assay and the Idylla KRAS Mutation Test to analyse 18 formalin-fixed paraffin-embedded NSCLC tumour samples with known EGFR and KRAS mutation status according to next-generation sequencing (NGS) and droplet digital PCR (ddPCR) for EGFRT790M mutations...
February 2, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28153952/qmc-pcrx-a-novel-method-for-rapid-mutation-detection
#9
Henry O Ebili, James Hassall, Abutaleb Asiri, Hersh Ham-Karim, Wakkas Fadhil, Ayodeji Johnson Agboola, Mohammad Ilyas
AIMS: We previously described the quick multiplex consensus PCR (QMC-PCR) as a method for rapid mutation screening in low-quality template. QMC-PCR has two-stages: a prediagnostic multiplex (PDM) reaction followed by a single specific diagnostic reaction with high-resolution melting (HRM) analysis. We aimed to develop QMC-PCRx in which second stage was multiplexed to allow testing of multiple targets. METHODS: The PDM reaction was retained without change. For the second stage, in silico design was used to identify targets amenable to a multiplex specific diagnostic reaction and multiplex HRM (mHRM) analysis...
February 2, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28143941/a-novel-molecular-assay-using-hybridisation-probes-and-melt-curve-analysis-for-calr-exon-9-mutation-detection-in-myeloproliferative-neoplasms
#10
Thomas Keaney, Louise O'Connor, Janusz Krawczyk, Moutaz A Abdelrahman, Amjad H Hayat, Margaret Murray, Michael O'Dwyer, Melanie Percy, Stehpen Langabeer, Karl Haslam, Barry Glynn, Ciara Mullen, Evelyn Keady, Sinéad Lahiff, Terry J Smith
AIMS: Somatic insertions/deletions in exon 9 of the calreticulin gene have been identified in patients with essential thrombocythemia and primary myelofibrosis. Over 55 mutations have been discovered, 80% of which consist of either type 1 52-bp deletion or type 2 5-bp insertion. Other mutations (types 3-5) in conjunction with types 1 and 2 account for >87% of identified mutations. The aim of this study was development of a rapid PCR-based assay using LightCycler Hybridisation Probes for the detection of type 1-5 CALR mutations...
January 31, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28137728/novel-exon-exon-breakpoint-in-cic-dux4-fusion-sarcoma-identified-by-anchored-multiplex-pcr-archer-fusionplex-sarcoma-panel
#11
Benjamin Nathanael Loke, Victor Kwan Min Lee, Jain Sudhanshi, Meng Kang Wong, Chik Hong Kuick, Mark Puhaindran, Kenneth Tou En Chang
AIMS: We describe the clinical and pathological features and novel genetic findings of a case of CIC-DUX4 sarcoma occurring in the thigh of a 35-year-old man. METHODS: Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was used to identify the novel fusion breakpoints of this CIC-DUX4 sarcoma using formalin-fixed and paraffin-embedded tumour material. RESULTS: This CIC-DUX4 sarcoma has a novel fusion breakpoint between exon 20 of the CIC gene and exon 1 of the DUX4 gene...
January 30, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28119349/expression-of-pten-and-its-pseudogene-ptenp1-and-promoter-methylation-of-pten-in-non-tumourous-thymus-and-thymic-tumours
#12
Atsuko Masunaga, Mutsuko Omatsu, Toshiaki Kunimura, Shugo Uematsu, Yoshito Kamio, Akihiko Kitami, Yohei Miyagi, Kenzo Hiroshima, Takashi Suzuki
AIMS: Mutation or promoter methylation of the phosphatase tensin homologue deleted on chromosome 10 tumour suppressor gene (PTEN) promotes some cancers. Moreover, PTENP1 (PTEN pseudogene) transcript regulates PTEN expression and is thought to be associated with tumourigenesis in some cancers. Here, we investigated PTEN expression in thymic epithelium and thymic epithelial tumours. METHODS: Immunohistochemical analysis of PTEN was performed on two non-tumourous thymus (NT) samples, 33 thymomas (three type A, eight type AB, 11 type B1, six type B2, and five type B3), and four thymic carcinomas (TCs)...
January 24, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28119348/a-pragmatic-approach-to-vasculitis-in-the-gastrointestinal-tract
#13
REVIEW
Runjan Chetty, Stefano Serra
Although vasculitis involving the gastrointestinal tract (GIT) is an uncommon occurrence, occasionally vasculitis can present as haemorrhagic infarction or ischaemia for which a length of bowel is removed. Invariably, the appropriate clinical history is not forthcoming, or vasculitis is not clinically suspected. The purpose of this overview is to provide the practising gastrointestinal (GI) pathologist with a framework to recognise and diagnose vasculitides within the GIT. The classification may be approached by aetiological agent or size of vessel involved; an international consensus group now favours the latter approach...
January 24, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28108473/expression-of-the-interleukin-21-and-phosphorylated-extracellular-signal-regulated-kinase-1-2-in-kimura-disease
#14
Qing-Li Chen, Chen-Xi Li, Bo Shao, Zhong-Cheng Gong, Hui Liu, Bin Ling, Keremu Abasi, Lu-Lu Hu, Bing Wang, Xiao-Peng Yin
OBJECTIVE: To investigate the expressions of interleukin (IL)-21 and phosphorylated extracellular signal regulated kinase 1/2 (pERK1/2) in Kimura disease (KD) and to correlate the findings with clinical and prognostic variables. METHODS: Immunohistochemical analysis of IL-21 and pERK1/2 was performed in 18 cases of KD and five gender- and age-matched control samples. Clinical data were extracted and patients followed up for a mean period of 32.1 months. RESULTS: After a mean follow-up period of 32...
January 20, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28100593/clinical-implications-of-dnmt3a-mutations-in-a-southeast-asian-cohort-of-acute-myeloid-leukaemia-patients
#15
Marcus Tan, Isaac K S Ng, Zhaojin Chen, Kenneth Ban, Christopher Ng, Lily Chiu, Elaine Seah, Mingxuan Lin, Bee Choo Tai, Benedict Yan, Chin Hin Ng, Wee-Joo Chng
AIMS: In recent years, genomic technologies have enabled the identification of mutations in acute myeloid leukaemia (AML). DNMT3A is a recurrently mutated epigenetic modifier gene in AML. To date, the prognostic significance of DNMT3A mutations has not been studied in a Southeast Asian AML population. We sought to investigate the clinical implications of DNMT3A mutations in a Southeast Asian cohort of AML patients. METHODS: DNMT3A mutations were identified using a targeted next-generation sequencing panel in 157 AML patients...
January 18, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28096273/mortalin-promotes-cell-proliferation-and-epithelial-mesenchymal-transition-of-intrahepatic-cholangiocarcinoma-cells-in-vitro
#16
Qiang Kang, Jia-Bin Cai, Rui-Zhao Dong, Li-Xin Liu, Chi Zhang, Peng-Fei Zhang, Hao Zou, Nan Xie, Lu Zhang, Xin-Yu Zhang, Zheng-Ji Song, Zhao-Ru Dong, Mei-Yu Hu, Xiao-Yong Huang, Xiao-Wen Zhang, Ai-Wu Ke, Guo-Ming Shi
AIMS: The prognosis of patients with intrahepatic cholangiocarcinoma (ICC) remains poor in terms of overall survival (OS) and recurrence rate. Mortalin, a stress chaperone, has been reported to be involved in carcinogenesis and metastasis. However, its role in ICC has not been defined. METHODS: Mortalin expression in tumour samples from patients with ICC was examined by Western blot and immunohistochemistry, and correlation between its expression and clinicopathological features was assessed...
January 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28082414/thyroid-cytology-histology-correlation-using-the-rcpath-terminology-for-thyroid-cytology-reporting
#17
D Parkinson, S Aziz, R Bentley, S J Johnson
AIMS: The Royal College of Pathologists Thy1-5 thyroid cytology guidance, 2009, second edition 2016, invites audits of its use. This report documents the experience of one department, assessing percentage usage of each Thy category, correlation with subsequent histology and comparison with other published studies. METHODS: Thyroid cytology and subsequent histology reports for 7 years (1 January 2008-31 December 2014) were reviewed, excluding referrals. Years 2008-2010 were compared with 2011-2014...
January 12, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28073996/estimate-of-false-positive-breast-cancer-diagnoses-from-accuracy-studies-a-systematic-review
#18
REVIEW
Nereo Segnan, Silvia Minozzi, Antonio Ponti, Cristina Bellisario, Sara Balduzzi, Marien González-Lorenzo, Silvia Gianola, Paola Armaroli
BACKGROUND: False-positive histological diagnoses have the same consequences of overdiagnosis in terms of unnecessary treatment. The aim of this systematic review is to assess their frequency at needle core biopsy (CB) and/or surgical excision of the breast. METHODS: PubMed, Embase, Cochrane Library were systematically searched up to 30 October 2015. Eligibility criteria: cross-sectional studies assessing diagnostic accuracy of CB compared with surgical excision; studies assessing reproducibility of pathologists reading the same slides...
January 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#19
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
January 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28069628/cushing-s-syndrome-a-practical-approach-to-diagnosis-and-differential-diagnoses
#20
Joseph M Pappachan, Christian Hariman, Mahamood Edavalath, Julian Waldron, Fahmy W Hanna
Diagnosis of Cushing's syndrome (CS) and identification of the aetiology of hypercortisolism can be challenging. The Endocrine Society clinical practice guidelines recommends one of the four tests for initial screening of CS, namely, urinary-free cortisol, late night salivary cortisol, overnight dexamethasone suppression test or a longer low-dose dexamethasone suppression test, for 48 hours. Confirmation and localisation of CS requires additional biochemical and radiological tests. Radiological evaluation involves different imaging modalities including MRI with or without different radio-nuclear imaging techniques...
January 9, 2017: Journal of Clinical Pathology
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