journal
MENU ▼
Read by QxMD icon Read
search

Journal of Pathology. Clinical Research

journal
https://www.readbyqxmd.com/read/29659200/atypical-tuberous-sclerosis-complex-presenting-as-familial-renal-cell-carcinoma-with-leiomyomatous-stroma
#1
Ismaël Bah, Somayyeh Fahiminiya, Louis R Bégin, Nancy Hamel, Maria Daniela D'Agostino, Simon Tanguay, William D Foulkes
We report an atypical tuberous sclerosis complex phenotype presenting as familial multiple renal cell carcinomas with (angio)leiomyomatous stroma (5/7 familial renal cell carcinomas) on a background of multiple angiomyolipomas, hypopigmented skin macules and absence of neurological anomalies. In the index case and 3 relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G>A, (p.Arg905Gln)], a rare TSC-associated alteration which has previously been associated with a milder TSC phenotype...
April 16, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29659191/optimised-arid1a-immunohistochemistry-is-an-accurate-predictor-of-arid1a-mutational-status-in-gynaecological-cancers
#2
Saira Khalique, Kalnisha Naidoo, Ayoma D Attygalle, Divya Kriplani, Frances Daley, Anne Lowe, James Campbell, Thomas Jones, Michael Hubank, Kerry Fenwick, Nicholas Matthews, Alistair G Rust, Christopher J Lord, Susana Banerjee, Rachael Natrajan
ARID1A is a tumour suppressor gene that is frequently mutated in clear cell and endometrioid carcinomas of the ovary and endometrium and is an important clinical biomarker for novel treatment approaches for patients with ARID1A defects. However, the accuracy of ARID1A immunohistochemistry (IHC) as a surrogate for mutation status has not fully been established for patient stratification in clinical trials. Here we tested whether ARID1A immunohistochemistry could reliably predict ARID1A mutations identified by next-generation sequencing...
April 16, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29633575/anaplastic-lymphoma-kinase-alk-gene-rearrangements-in-radiation-related-human-papillary-thyroid-carcinoma-after-the-chernobyl-accident
#3
Annette Arndt, Konrad Steinestel, Alexis Rump, Manveer Sroya, Tetiana Bogdanova, Leonila Kovgan, Matthias Port, Michael Abend, Stefan Eder
Childhood radiation exposure has been associated with increased papillary thyroid carcinoma (PTC) risk. The role of ALK gene rearrangements in radiation-related PTC remains unclear, but STRN-ALK fusions have recently been detected in PTCs from radiation-exposed persons after Chernobyl using targeted next-generation sequencing and RNA-seq. We investigated ALK and RET gene rearrangements as well as known driver point mutations in PTCs from 77 radiation-exposed patients (mean age at surgery 22.4 years) and PTCs from 19 non-exposed individuals after the Chernobyl accident...
April 6, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29654716/vascularization-of-colorectal-carcinoma-liver-metastasis-insight-into-stratification-of-patients-for-anti-angiogenic-therapies
#4
Anthoula Lazaris, Abdellatif Amri, Stephanie K Petrillo, Paublo Zoroquiain, Nisreen Ibrahim, Ayat Salman, Zu-Hua Gao, Peter B Vermeulen, Peter Metrakos
Current treatment for metastatic disease targets angiogenesis. With the increasing data demonstrating that cancer cells do not entirely rely on angiogenesis but hijack the existing vasculature through mechanisms such as co-option of existing blood vessels, identification of targets has become of utmost importance. Our study looks at the vasculature of chemonaïve and treated colorectal carcinoma liver metastases (CRCLMs) to obtain a basic understanding of the microvessel density, type of vasculature (mature versus immature), and correlation with histopathological growth patterns that demonstrate unique patterns of angiogenesis...
March 3, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665326/towards-developing-a-meaningful-grading-system-for-cervical-squamous-cell-carcinoma
#5
W Glenn McCluggage
Cervical cancer is one of the commonest cancers worldwide, especially in developing countries. In early stage disease, a variety of pathological parameters are of prognostic value but currently this does not include tumour grade which, for a number of reasons, is of limited or no value in cervical squamous cell carcinomas. In a recent article in this journal, Jesinghaus and colleagues investigated a novel histopathological grading system based on tumour budding and cell nest size, which has been shown to outperform conventional grading systems for squamous cell carcinoma at several other sites such as lung, oral cavity, and oesophagus in terms of patient prognostication...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665325/a-gene-signature-associated-with-pten-activation-defines-good-prognosis-intermediate-risk-prostate-cancer-cases
#6
Chee W Ong, Pamela Maxwell, Muhammad A Alvi, Stephen McQuaid, David Waugh, Ian Mills, Manuel Salto-Tellez
Accurate identification of intermediate risk (Gleason 3 + 4 = 7) prostate cancer patients with low risk of disease progression is an unmet challenge in treatment decision making. Here we describe a gene signature that could guide clinicians in the selection of patients with intermediate stage clinically localized prostate cancer for active surveillance. We examined six major drivers of aggressive disease - PTEN, MYC, RB1, TP53, AURKA, AR - by immunohistochemistry in a focused (N = 69) cohort predominantly consisting of intermediate risk prostate cancer...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665324/rapid-amplification-of-prions-from-variant-creutzfeldt-jakob-disease-cerebrospinal-fluid
#7
Marcelo A Barria, Andrew Lee, Alison Je Green, Richard Knight, Mark W Head
Human prion diseases constitute a group of infectious and invariably fatal neurodegenerative disorders associated with misfolding of the prion protein. Variant Creutzfeldt-Jakob disease (vCJD) is a zoonotic prion disease linked to oral exposure to the infectious agent that causes bovine spongiform encephalopathy (BSE) in cattle. The most recent case of definite vCJD was heterozygous (MV) at polymorphic codon 129 of the prion protein gene PRNP while all of the previous 177 definite or probable vCJD cases who underwent genetic analysis were methionine homozygous (MM)...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665323/introducing-a-novel-highly-prognostic-grading-scheme-based-on-tumour-budding-and-cell-nest-size-for-squamous-cell-carcinoma-of-the-uterine-cervix
#8
Moritz Jesinghaus, Johanna Strehl, Melanie Boxberg, Frido Brühl, Adrian Wenzel, Björn Konukiewitz, Anna M Schlitter, Katja Steiger, Arne Warth, Andreas Schnelzer, Marion Kiechle, Matthias W Beckmann, Aurelia Noske, Arndt Hartmann, Grit Mehlhorn, Martin C Koch, Wilko Weichert
A novel histopathological grading system based on tumour budding and cell nest size has recently been shown to outperform conventional (WHO-based) grading algorithms in several tumour entities such as lung, oral, and oesophageal squamous cell carcinoma (SCC) in terms of prognostic patient stratification. Here, we tested the prognostic value of this innovative grading approach in two completely independent cohorts of SCC of the uterine cervix. To improve morphology-based grading, we investigated tumour budding activity and cell nest size as well as several other histomorphological factors (e...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665322/tumour-cell-expression-of-interleukin-6-receptor-%C3%AE-is-associated-with-response-rates-in-patients-treated-with-sunitinib-for-metastatic-clear-cell-renal-cell-carcinoma
#9
Martin Pilskog, Leif Bostad, Reidunn J Edelmann, Lars A Akslen, Christian Beisland, Oddbjørn Straume
Clear cell renal cell carcinoma (ccRCC) is the most common type of renal cell carcinoma, and anti-angiogenic treatment is currently first line therapy for metastatic ccRCC (mccRCC). Response rates and duration of response show considerable variation, and adverse events have a major influence on patient quality of life. The need for predictive biomarkers to select responders to receptor tyrosine kinase inhibitors upfront is urgent. We investigated the predictive value of immunohistochemical biomarkers associated with angiogenesis and systemic inflammation in mccRCC...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665321/a-novel-ano5-splicing-variant-in-a-lgmd2l-patient-leads-to-production-of-a-truncated-aggregation-prone-ano5-peptide
#10
Jing Xu, Li Xu, Yeh S Lau, Yandi Gao, Steven A Moore, Renzhi Han
Mutations in ANO5 cause several human diseases including gnathodiaphyseal dysplasia 1 (GDD1), limb-girdle muscular dystrophy 2L (LGMD2L), and Miyoshi myopathy 3 (MMD3). Previous work showed that complete genetic disruption of Ano5 in mice did not recapitulate human muscular dystrophy, while residual expression of mutant Ano5 in a gene trapped mouse developed muscular dystrophy with defective membrane repair. This suggests that truncated Ano5 expression may be pathogenic. Here, we screened a panel of commercial anti-Ano5 antibodies using a recombinant adenovirus expressing human Ano5 with FLAG and YFP at the N- and C-terminus, respectively...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29665320/reduced-lymphotoxin-beta-production-by-tumour-cells-is-associated-with-loss-of-follicular-dendritic-cell-phenotype-and-diffuse-growth-in-follicular-lymphoma
#11
Giuseppina Pepe, Arianna Di Napoli, Claudia Cippitelli, Stefania Scarpino, Emanuela Pilozzi, Luigi Ruco
Cytokine production is essential for follicular dendritic cell (FDC) maintenance and organization of germinal centres. In follicular lymphoma, FDCs are often disarrayed and may lack antigens indicative of terminal differentiation. We investigated the in situ distribution of cells producing lymphotoxin-beta (LTB), lymphotoxin-alpha (LTA), and tumour necrosis factor-alpha (TNFA) transcripts in human reactive lymph nodes and in follicular lymphomas with follicular or diffuse growth pattern. LTB was the cytokine most abundantly produced in germinal centres...
April 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29624903/lupus-nephritis-low-urinary-dnase-i-levels-reflect-loss-of-renal-dnase-i-and-may-be-utilized-as-a-biomarker-of-disease-progression
#12
Hege L Pedersen, Kjersti D Horvei, Dhivya Thiyagarajan, Gudrun E Norby, Natalya Seredkina, Gabriella Moroni, Gro Ø Eilertsen, Hallvard Holdaas, Erik H Strøm, Gunnstein Bakland, Pier-Luigi Meroni, Ole P Rekvig
Renal DNase I is lost in advanced stages of lupus nephritis. Here, we determined if loss of renal DNase I reflects a concurrent loss of urinary DNase I, and whether absence of urinary DNase I predicts disease progression. Mouse and human DNase I protein and DNase I endonuclease activity levels were determined by western blot, gel, and radial activity assays at different stages of the murine and human forms of the disease. Cellular localization of DNase I was analyzed by immunohistochemistry, immunofluorescence, confocal microscopy, and immunoelectron microscopy...
February 21, 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416878/genomic-profiling-identifies-gpc5-amplification-in-association-with-sarcomatous-transformation-in-a-subset-of-uterine-carcinosarcomas
#13
M Herman Chui, Cherry Have, Lien N Hoang, Patricia Shaw, Cheng-Han Lee, Blaise A Clarke
Uterine carcinosarcoma, also known as Malignant Mixed Müllerian Tumour, is a high-grade biphasic neoplasm composed of sarcomatous elements thought to originate via transdifferentiation from high-grade endometrial carcinoma. To identify molecular factors contributing to the histogenesis of this tumour, we analyzed DNA extracted from matched carcinoma and sarcoma components from 12 cases of carcinosarcoma by a molecular inversion probe microarray to assess genomic copy number alterations (CNAs) and allelic imbalances...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416877/idk1-is-a-rat-monoclonal-antibody-against-hypoglycosylated-bone-sialoprotein-with-application-as-biomarker-and-therapeutic-agent-in-breast-cancer-skeletal-metastasis
#14
Michael Zepp, Marineta Kovacheva, Munkhtsetseg Altankhuyag, Gabriela Westphal, Irina Berger, Katharina S Gather, Heidegard Hilbig, Jochen Neuhaus, Gertrud M Hänsch, Franz P Armbruster, Martin R Berger
Changes in glycosylation are salient features of cancer cells. Here, we report on the diagnostic and therapeutic properties of IDK1, an antibody against tumour associated, hypoglycosylated bone sialoprotein (hypo-BSP). The affinity of the rat monoclonal antibody IDK1 for hypo-BSP, as determined by microscale thermophoresis, was three orders of magnitude higher than for mature BSP, whereas the mouse monoclonal antibody used had similar affinity for both BSP forms. IDK1 showed no activity against the proliferation or migration of normal or cancer cells growing in vitro ...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416876/histological-scoring-of-immune-and-stromal-features-in-breast-and-axillary-lymph-nodes-is-prognostic-for-distant-metastasis-in-lymph-node-positive-breast-cancers
#15
Anita Grigoriadis, Patrycja Gazinska, Trupti Pai, Sheeba Irhsad, Yin Wu, Rosemary Millis, Kalnisha Naidoo, Julie Owen, Cheryl E Gillett, Andrew Tutt, Anthonius Cc Coolen, Sarah E Pinder
The prognostic importance of lymph node (LN) status and tumour-infiltrating lymphocytes (TILs), is well established, particularly TILs in triple negative breast cancers (TNBCs). So far, few studies have interrogated changes in involved and uninvolved LNs and evaluated if their morphological patterns add valuable information for the prediction of disease progression in breast cancer. In a cohort of 309 patients enriched for TNBCs (170/309), we histologically characterised immune and stromal features in primary tumours and associated involved and uninvolved axillary LNs on routine haematoxylin and eosin stained sections...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416875/patterns-of-bap1-protein-expression-provide-insights-into-prognostic-significance-and-the-biology-of-uveal-melanoma
#16
Neil Farquhar, Sophie Thornton, Sarah E Coupland, Judy M Coulson, Joseph J Sacco, Yamini Krishna, Heinrich Heimann, Azzam Taktak, Colleen M Cebulla, Mohamed H Abdel-Rahman, Helen Kalirai
Uveal melanoma (UM) is a rare aggressive intraocular tumour with a propensity for liver metastases, occurring in ∼50% of patients. The tumour suppressor BAP1 is considered to be key in UM progression. Herein, we present the largest study to date investigating cellular expression patterns of BAP1 protein in 165 UMs, correlating these patterns to prognosis. Full clinical, histological, genetic, and follow-up data were available for all patients. BAP1 gene sequencing was performed on a subset of 26 cases. An independent cohort of 14 UMs was examined for comparison...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416874/optimization-of-commercially-available-zika-virus-antibodies-for-use-in-a-laboratory-developed-immunohistochemical-assay
#17
Brigid C Bollweg, Luciana Silva-Flannery, Pamela Spivey, Gillian L Hale
Zika virus (ZIKV) infection during pregnancy can cause adverse fetal outcomes and severe irreversible congenital birth defects including microcephaly. Immunohistochemistry (IHC) is a valuable diagnostic tool for detecting ZIKV antigens in tissues from cases of fetal loss in women infected with ZIKV, and for providing insights into disease pathogenesis. As a result, there is increasing demand for commercially available ZIKV antibodies for use in IHC assays. ZIKV antibodies were selected and obtained from commercial sources to include both mouse and rabbit hosts, and a variety of antigenic targets...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416873/biomarker-discovery-for-renal-cancer-stem-cells
#18
REVIEW
Claudia Corrò, Holger Moch
Characterised by high intra- and inter-tumor heterogeneity, metastatic renal cell carcinoma (RCC) is resistant to chemo- and radiotherapy. Therefore, the development of new prognostic and diagnostic markers for RCC patients is needed. Cancer stem cells (CSCs) are a small population of neoplastic cells within a tumor which present characteristics reminiscent of normal stem cells. CSCs are characterised by unlimited cell division, maintenance of the stem cell pool (self-renewal), and capability to give rise to all cell types within a tumor; and contribute to metastasis in vivo (tumourigenicity), treatment resistance and recurrence...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29085668/evaluation-of-endometrial-carcinoma-prognostic-immunohistochemistry-markers-in-the-context-of-molecular-classification
#19
Anthony N Karnezis, Samuel Leung, Jamie Magrill, Melissa K McConechy, Winnie Yang, Christine Chow, Martin Kobel, Cheng-Han Lee, David G Huntsman, Aline Talhouk, Friederich Kommoss, C Blake Gilks, Jessica N McAlpine
Molecular subclassification of endometrial carcinoma (EC) with Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) identifies four subtypes [DNA polymerase epsilon ( POLE ) mutant, mismatch repair-deficient, p53 wild-type (wt), and p53 abnormal]. The aim of this study was to evaluate additional EC biomarkers in the context of these subtypes. Tissue microarrays encompassing 460 previously characterized ECs were assessed for L1-cell adhesion molecule (L1CAM), progesterone receptor (PR), estrogen receptor (ER) alpha, stathmin, and phosphatase and tensin homolog (PTEN), by immunohistochemistry (IHC)...
October 2017: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29085667/histopathological-and-genotypic-characterization-of-metastatic-colorectal-carcinoma-with-pd-l1-cd274-expression-possible-roles-of-tumour-micro-environmental-factors-for-cd274-expression
#20
Shingo Inaguma, Jerzy Lasota, Anna Felisiak-Golabek, Artur Kowalik, Zengfeng Wang, Sebastian Zieba, Joanna Kalisz, Hiroshi Ikeda, Markku Miettinen
Aberrant PD-L1 (CD274) expression has been described in different types of tumour and linked to tumour aggressiveness and a poor prognosis. In primary colorectal carcinomas (CRCs), CD274 expression was reported to be associated with mismatch repair (MMR)-deficiency, BRAF mutation, and "stem-like" immunophenotype defined by down-regulation of homeobox protein CDX2 and membranous expression of activated leukocyte cell adhesion molecule (ALCAM). However, the immunophenotype and genotype of CD274-positive metastatic CRC have not been extensively analysed...
October 2017: Journal of Pathology. Clinical Research
journal
journal
50183
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"