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Journal of Clinical Pathology

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https://www.readbyqxmd.com/read/30425122/ras-genes-in-colorectal-carcinoma-pathogenesis-testing-guidelines-and-treatment-implications
#1
Omer Saeed, Antonio Lopez-Beltran, Kurt W Fisher, Marina Scarpelli, Rodolfo Montironi, Alessia Cimadamore, Francesco Massari, Matteo Santoni, Liang Cheng
The RAS family is among the most commonly mutated genes in all human malignancies including colon cancer. In normal cells, RAS proteins act as a link in the intracellular signal transduction initiated by binding of growth factors to cell membrane receptors mediating cell survival. RAS isoproteins have great morphological similarities, but despite that, they are thought to have different functions in different tissues. RAS mutations, as supported by several studies including animal models, have a role in the development and progression of colorectal cancer...
November 13, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30425121/apocrine-lesions-of-the-breast-part-2-of-a-two-part-review-invasive-apocrine-carcinoma-the-molecular-apocrine-signature-and-utility-of-immunohistochemistry-in-the-diagnosis-of-apocrine-lesions-of-the-breast
#2
Clare D'Arcy, Cecily M Quinn
Pure apocrine carcinoma of the breast is rare and has been defined by using a combination of morphologic (apocrine morphology in >90% of tumour cells) and immunohistochemical criteria (oestrogen receptor (ER) and progesterone receptor (PR) negative and androgen receptor (AR) positive). Recent advances in the molecular classification of breast tumours have uncovered a subset of breast tumours associated with high expression of androgen receptor mRNA including the so-called 'luminal androgen receptor (LAR) tumours' and 'molecular apocrine tumours' (MATs)...
November 13, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30409840/apocrine-lesions-of-the-breast-part-1-of-a-two-part-review-benign-atypical-and-in-situ-apocrine-proliferations-of-the-breast
#3
Clare D'Arcy, Cecily Quinn
Apocrine morphology is a common phenomenon encountered in everyday breast pathology practice, and is defined as cuboidal or columnar cells exhibiting abundant eosinophilic granular cytoplasm, prominent apical granules, a low nuclear-cytoplasmic ratio, and round nuclei with pale chromatin and prominent nucleoli. Apocrine morphology is recognised in benign, atypical and malignant lesions of the breast. The morphology of apocrine atypia and non-high-grade apocrine ductal carcinoma in situ (DCIS) is less well defined due to the relative rarity of these lesions...
November 8, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30409839/tumour-heterogeneity-in-triplet-paired-metastatic-tumour-tissues-in-metastatic-renal-cell-carcinoma-concordance-analysis-of-target-gene-sequencing-data
#4
Sung Han Kim, Weon Seo Park, Jinsoo Chung
AIMS: The aim of the present study was to determine the concordant correlation in the expression of 88 target genes from triple-paired metastatic tissues in individual patients with metastatic renal carcinoma (mRCC) using a target gene sequencing (TGS) approach. METHODS: Between 2002 and 2017, a total of 350 triple-paired metastatic tissue samples from 262 patients with mRCC obtained from either nephrectomy or metastasectomy were used for TGS of 88 candidate genes...
November 8, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30385479/diagnosis-of-intrathyroidal-ectopic-thymus-in-thyroid-fine-needle-aspiration-samples
#5
Weijie Li, Daniel Dim, Lorien Paulson, Douglas Rivard
AIMS: Intrathyroidal ectopic thymus (ITET) is a rare cause of paediatric thyroid nodules. Although ultrasonography of ITET demonstrates a characteristic appearance similar to that of normal thymus, accurate differentiation from other thyroid nodule etiologies by ultrasonography is difficult, and so that fine needle aspiration (FNA) is usually performed for further analysis. The aim of this study was to evaluate the utility of flow cytometry (FCM) in confirming the diagnosis of ITET in thyroid FNA samples...
November 1, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30361395/positive-association-of-pik3ca-mutation-with-kras-mutation-but-not-braf-mutation-in-colorectal-cancer-suggests-co-selection-is-gene-specific-but-not-pathway-specific
#6
Susanti Susanti, Wakkas Fadhil, Shamayal Murtaza, James C Hassall, Henry O Ebili, Anca Oniscu, Mohammad Ilyas
No abstract text is available yet for this article.
October 25, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30361394/hba1c-a-review-of-non-glycaemic-variables
#7
Leon Campbell, Tessa Pepper, Kate Shipman
Identification of the correlation between HbA1c and diabetic complications has yielded one of the most clinically useful biomarkers. HbA1c has revolutionised the diagnosis and monitoring of diabetes mellitus. However, with widespread adoption of HbA1c has come increasing recognition that non-glycaemic variables can also affect HbA1c, with varying clinical significance. Furthermore, the identification of a discrepancy between predicted and measured HbA1c in some individuals, the so-called 'glycation gap', may be clinically significant...
October 25, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30355587/diagnostic-predictive-value-of-xpert-bladder-cancer-monitor-in-the-follow-up-of-patients-affected-by-non-muscle-invasive-bladder-cancer
#8
Carolina D Elia, Alexander Pycha, Decio M Folchini, Christine Mian, Esther Hanspeter, Christine Schwienbacher, Egils Vjaters, Armin Pycha, Emanuela Trenti
AIMS: Cystoscopy and urine cytology represent the gold standard for monitoring superficial bladder cancer (BC). Xpert BC Monitor is a new urinary marker based on the evaluation of five target mRNAs overexpressed in patients with bladder cancer. The aim of our study was to evaluate the diagnostic accuracy of Xpert BC Monitor in follow-up of patients with non-muscle invasive bladder cancer (NMIBC). METHODS: 230 patients were included in this prospective study. Xpert BC Monitor cut-off was set to 0...
October 24, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30355586/benign-notochordal-cell-tumour-clinicopathology-and-molecular-profiling-of-13-cases
#9
Jiang Du, Li Xu, Yun Cui, Zhaoxia Liu, Yujin Su, Guilin Li
AIMS: To study the clinicopathological and molecular features of benign notochordal cell tumours (BNCTs) and their differential diagnosis from chordoma. METHODS: 13 cases of BNCT were investigated. The genome-wide copy number imbalances were performed using Oncoscan CNV array in three cases and fluorescence in situ hybridisation (FISH) detection of epidermal growth factor receptor (EGFR)/chromosome 7 enumeration probe (CEP7), LSI1p36/1q21, LSI19p13/19q13, CEP3/CEP12 and Telvysion 6 P was performed in 13 cases...
October 24, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30352913/fat-clearance-of-upper-gastrointestinal-resection-specimens-increases-lymph-node-yield-and-may-result-in-nodal-upstaging
#10
Jon Griffin, Clare Bunning, Asha Dubé
INTRODUCTION: Lymph node retrieval and quantification is an important element in staging upper gastrointestinal cancers. Our department introduced fat clearance for oesophagectomy and gastrectomy specimens in 2014. This study assessed the impact of this change on lymph node yield and upstaging. METHODS: We reviewed histopathology data for upper gastrointestinal resection specimens. Patient demographics, clinical, macroscopic and microscopic data were compared with a historical cohort who did not undergo fat clearance...
October 23, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30352912/feasibility-and-safety-of-targeting-the-anterior-superior-iliac-spine-to-perform-a-bone-marrow-procedure-a-prospective-clinical-study
#11
Loius J Reed, Shirin Attarian, Todd R Olson, Shashi Singh, Alexander Shestopalov, Ellen W Friedman
AIMS: The bone marrow procedure (BMP) has been performed worldwide for years. Nonetheless, no generally accepted standards or guidelines for the performance of the BMP exist. Recent studies suggested that the lateral angulation technique (LAT), targeting the anterior superior iliac spine (ASIS) after penetration of the posterior superior iliac spine, yields longer biopsy cores and is safer for patients. We assessed the feasibility and safety of targeting the ASIS in the prone and lateral decubitus positions...
October 23, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30337328/molecular-diagnosis-of-unexplained-haemolytic-anaemia-using-targeted-next-generation-sequencing-panel-revealed-p-ala337thr-novel-mutation-in-gpi-gene-in-two-indian-patients
#12
Prabhakar S Kedar, Vinod Gupta, Rashmi Dongerdiye, Ashish Chiddarwar, Prashant Warang, Manisha R Madkaikar
Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing congenital haemolytic anaemia (CHA). Diagnosis of GPI deficiency by the biochemical method is unpredicted. Molecular diagnosis by identifying genetic mutation is the gold standard method for confirmation of disease, but causative genes involved in CHA are numerous, and identifying a gene-by-gene approach using Sanger sequencing is also cumbersome, expensive and labour intensive. Recently, next-generation targeted sequencing is more useful in the diagnosis of unexplained haemolytic anaemia...
October 18, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30315136/clinicopathological-features-and-outcome-of-antibody-negative-anti-glomerular-basement-membrane-disease
#13
Dandan Liang, Shaoshan Liang, Feng Xu, Mingchao Zhang, Xiaomei Li, Yiyao Tu, Zhihong Liu, Caihong Zeng
AIM: To explore the clinicopathological characteristics of patients with anti-GBM antibody-negative anti-GBM disease. METHODS: The clinical and renal pathological findings were retrospectively studied in 19 patients. All patients met the following inclusion criteria: linear GBM IgG deposition on immunofluorescence(IF); and lack of serum anti-GBM antibodies by ELISA and indirect immunofluorescence assay. RESULTS: There were 17 male and two female patients, with a median age of 36 years (range 15-61 years)...
October 12, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30315135/hb-palencia-a-novel-%C3%AE-%C3%AE-%C3%AE-type-two-way-fusion-variant-with-%C3%AE-globin-like-expression-levels
#14
Jorge M Nieto, Fernando Ataúlfo González, José María Alonso, Eva Golvano, Lucia Guerrero, Beatriz Albarrán, Ana Villegas, Rafael B Martínez, Paloma Ropero
AIMS: Fusion proteins of unequal recombination events at the β-globin locus have pathological effect. The haemoglobin (Hb) variants of type Lepore are fusion proteins characterised by β-like globin chains with a δ-globin ( HBD ) N-terminus and a β-globin ( HBB ) C-terminus, whereas reciprocal products of underlying crossover events hold a HBB N-terminus and HBD C-terminus instead. Finally, Hb Parchman contains a β-like globin chain with a central HBB fragment and HBD -derived N-termini and C-termini, whereas reciprocal hybrid proteins are as yet unknown...
October 12, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30315134/evaluation-of-a-novel-liquid-biopsy-based-coloscape-assay-for-mutational-analysis-of-colorectal-neoplasia-and-triage-of-fit-patients-a-pilot-study
#15
Mauro Scimia, Jinwei Du, Francesco Pepe, Maria Antonia Bianco, Silvana Russo Spena, Farah Patell-Socha, Qing Sun, Michael J Powell, Umberto Malapelle, Giancarlo Troncone
Circulating cell free tumour derived nucleic acids are becoming recognised as clinically significant and extremely useful biomarkers for detection of cancer and for monitoring the progression of targeted drug therapy and immunotherapy. Screening programmes for colorectal cancer in Europe use the Fetal Immunochemical Test (FIT) test as a primary screener. FIT+ patients are referred to immediate colonoscopy and the positive predictive value (PPV) is usually 25%. In this article, we report a study employing the ColoScape assay panel to detect mutations in the APC, KRAS, BRAF and CTNNB1 genes, in order to collect preliminary performance indicators and plan a future, larger population study...
October 12, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30305316/cutaneous-immunohistochemical-staining-pattern-of-p53%C3%AE-isoforms
#16
Christine J Ko, Peggy Myung, David J Leffell, Jean-Christophe Bourdon
p53 is considered the guardian of the genome and as such has numerous functions. The TP53 gene is the most commonly mutated gene in cancer, and yet the exact biological significance of such mutations remains unclear. There are at least 12 different isoforms of p53, and the complexity of the p53 pathway may be in part related to these isoforms. Prior research has often not teased out what isoforms of p53 are being studied, and there is evidence in the literature that p53 isoforms are expressed differently. In this paper, we document the staining pattern of p53β isoforms in the skin and correlate it with mutational status in a subgroup of squamous proliferations of the skin...
October 10, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30282673/lysis-timer-a-new-sensitive-tool-to-diagnose-hyperfibrinolysis-in-liver-transplantation
#17
Stéphanie Roullet, Sylvie Labrouche, Christine Mouton, Alice Quinart, Karine Nouette-Gaulain, Christophe Laurent, Geneviève Freyburger
AIMS: Diagnosis of hyperfibrinolysis in orthotopic liver transplantation (OLT) remains challenging. Euglobulin clot lysis time (ECLT) is not adapted to clinical situations. ROTEM is specific but seldom sensitive to hyperfibrinolysis. The Lysis Timer assesses 'Global Fibrinolytic Capacity' in citrated plasma (GFC/LT). GFC/LT associates reagents for in vitro triggering of the clot (thrombin and calcium) and its lysis (tissue-plasminogenactivator (t-PA)), turbidity signal acquisition by the Lysis Timer, and dedicated software converting the digital signal into an optical curve...
October 3, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30279174/performance-analysis-of-sire-next-generation-sequencing-panel-in-diagnostic-setting-focus-on-nsclc-routine-samples
#18
Francesco Pepe, Caterina De Luca, Riccardo Smeraglio, Pasquale Pisapia, Roberta Sgariglia, Mariantonia Nacchio, Maria Russo, Nicola Serra, Danilo Rocco, Ciro Battiloro, Francesca Ambrosio, Gianluca Gragnano, Elena Vigliar, Claudio Bellevicine, Giancarlo Troncone, Umberto Malapelle
AIMS: Following the development for liquid biopsies of the SiRe next-generation sequencing (NGS) panel that covers 568 clinical relevant mutations in EGFR, KRAS, NRAS, BRAF, cKIT and PDGFRa genes, in this current study, we apply this small NGS panel on tissue samples of lung cancer. METHODS: A total of 322 specimens were prospectively tested. Technical parameters were analysed on both cytological and histological samples. In a subset of 75 samples, the EGFR SiRe results were compared with those generated by the European Community (CE)-IVD EGFR assay on Idylla platform...
October 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30275102/apoptotic-colopathy-a-pragmatic-approach-to-diagnosis
#19
Dipti M Karamchandani, Runjan Chetty
'Apoptotic colopathy' is an umbrella term signifying a pattern of injury where the gastrointestinal biopsy shows a colitic picture with apoptosis as the predominant histological feature. Although the entities within apoptotic colopathy share a common histological feature- 'apoptosis', there is a list of varied clinical differential diagnoses that produce this similar histological pattern of injury. These include graft-versus-host disease, drug-induced injury due to multiple drugs (in particular, mycophenolate mofetil, check point inhibitor therapy and some others), infections (particularly cytomegalovirus, adenovirus and some others), immune disorders and other miscellaneous causes...
October 1, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30275101/molecules-in-cancer-immunotherapy-benefits-and-side-effects
#20
Adrian C Bateman
This mini review describes some of the key interactions between cancer cells and the immune system. This includes the concept of tumour cell immunosurveillance, mechanisms of immune evasion by tumour cells and some of the novel immunology-based anticancer therapies that have recently been introduced. The latter are also set into the context of the enlarging spectrum of immunohistochemistry-based and molecular testing that can now be performed on formalin-fixed and paraffin-embedded tissues for predicting response to both well-established and newly developed agents...
October 1, 2018: Journal of Clinical Pathology
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