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Journal of Pathology

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https://www.readbyqxmd.com/read/28608987/smarca4-inactivating-mutations-cause-concomitant-coffin-siris-syndrome-microphthalmia-and-small-cell-carcinoma-of-the-ovary-hypercalcemic-type
#1
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi
SMARCA4 chromatin remodeling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small cell carcinoma of the ovary hypercalcemic type (SCCOHT) tumors. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28608929/high-grade-serous-carcinomas-arise-in-the-mouse-oviduct-via-defects-linked-to-the-human-disease
#2
Yali Zhai, Rong Wu, Rork Kuick, Michael S Sessine, Stephanie Schulman, Megan Green, Eric R Fearon, Kathleen R Cho
Recent studies suggest that the most common and lethal type of "ovarian" cancer, high-grade serous carcinoma (HGSC), usually arises from epithelium on the fallopian tube fimbriae, and not from the ovarian surface epithelium (OSE). We have developed Ovgp1-iCreER(T2) mice in which the Ovgp1 promoter controls expression of tamoxifen (TAM)-regulated Cre recombinase in oviductal epithelium - the murine equivalent of human fallopian tube epithelium (FTE). We employed Ovgp1-iCreER(T2) mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widely metastatic disease in a subset of mice...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28608921/whole-exome-sequencing-reveals-critical-genes-underlying-metastasis-in-esophageal-squamous-cell-carcinoma
#3
Wei Dai, Josephine Mun Yee Ko, Sheyne Sta Ana Choi, Zhouyou Yu, Luwen Ning, Hong Zheng, Vinod Gopalan, Kin Tak Chan, Nikki Pui-Yue Lee, Kwok Wah Chan, Simon Ying-Kit Law, Alfred King-Yin Lam, Maria Li Lung
Esophageal squamous cell carcinoma (ESCC) is one of the most lethal cancers due to a high frequency of metastasis. However, little is known about the genomic landscape of metastatic ESCC. To identify the genetic alterations that underlie ESCC metastasis, whole-exome sequencing (WES) was performed for 41 primary tumors and 15 lymph nodes (LNs) with metastatic ESCC. Eleven cases included matched primary tumors, synchronous LN metastases and non-neoplastic mucosa. Approximately 50-76% of the mutations identified in primary tumors appeared in the synchronous LN metastases...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28608476/pro-migratory-and-tgf-%C3%AE-activating-functions-of-%C3%AE-v%C3%AE-6-integrin-in-pancreatic-cancer-are-differentially-regulated-via-an-eps8-dependent-gtpase-switch
#4
Jo Tod, Christopher J Hanley, Mark R Morgan, Marta Rucka, Toby Mellows, Maria-Antoinette Lopez, Philip Kiely, Karwan A Moutasim, Steven J Frampton, Durgagauri Sabnis, David R Fine, Colin Johnson, John F Marshall, Giorgio Scita, Veronika Jenei, Gareth J Thomas
The integrin αvβ6 is upregulated in numerous carcinomas, where expression commonly correlates with poor prognosis. αvβ6 promotes tumour invasion, partly through regulation of proteases and cell migration, and is also the principal mechanism by which epithelial cells activate TGF-β1; this latter function complicates therapeutic targeting of αvβ6, since TGF-β1 has both tumour-promoting and -suppressive effects. It is unclear how these different αvβ6 functions are linked; both require actin cytoskeletal reorganisation, and it is suggested that tractive forces generated during cell migration activate TGF-β1 by exerting mechanical tension on the ECM-bound latent complex...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28608501/targeting-hypoxia-mediated-yap1-nuclear-translocation-ameliorates-pathogenesis-of-endometriosis-without-compromising-maternal-fertility
#5
Shih-Chieh Lin, Hsiu-Chi Lee, Pei-Chi Hou, Jhao-Lin Fu, Meng-Hsing Wu, Shaw-Jenq Tsai
Endometriosis is a highly prevalent gynecological disease that severely reduces women's health and quality of life. Ectopic endometriotic lesions have evolved mechanisms to survive in the hypoxic peritoneal microenvironment by regulating the expression of a significant subset of genes. However, the master regulator controlling these genes remains to be characterized. Herein, by using bioinformatics analysis and experimental verification, we identified Yes-Associated Protein 1 (YAP1) as a master regulator of endometriosis...
June 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28603917/a-rare-castration-resistant-progenitor-cell-population-is-highly-enriched-in-pten-null-prostate-tumors
#6
Lucila Sackmann Sala, Florence Boutillon, Giulia Menara, Andréa De Goyon-Pélard, Mylène Leprévost, Julie Codzamanian, Natalie Lister, Jan Pencik, Ashlee Clark, Nicolas Cagnard, Christine Bole-Feysot, Richard Moriggl, Gail P Risbridger, Renea A Taylor, Lukas Kenner, Jacques-Emmanuel Guidotti, Vincent Goffin
Castration-resistant prostate cancer is a lethal disease. The cell type(s) that survive androgen-deprivation remain poorly described despite global efforts to understand the various mechanisms of therapy resistance. We recently identified in wild-type (WT) mouse prostates a rare population of luminal progenitor cells that we called LSC(med) according to their FACS profile (Lin(-) /Sca-1(+) /CD49f(med) ). Here we investigated the prevalence and castration-resistance of LSC(med) in various mouse models of prostate tumorigenesis (Pb-PRL, Pten(pc-/-) , Hi-Myc mice)...
June 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28585302/rictor-mtorc2-promotes-macrophage-activation-and-kidney-fibrosis
#7
Jiafa Ren, Jianzhong Li, Ye Feng, Bingyan Shu, Yuan Gui, Wei Wei, Weichun He, Junwei Yang, Chunsun Dai
Mammalian target of rapamycin (mTOR) signaling controls many essential cellular functions. However, the role for Rictor/mTORC2 in regulating macrophage activation and kidney fibrosis remains largely unknown. We report here that Rictor/mTORC2 was activated in macrophages from the fibrotic kidneys of mice. Ablation of Rictor in macrophages diminished kidney fibrosis, inflammatory cell accumulation, macrophage proliferation and polarization after unilateral ureter obstruction (UUO) or ischemia/reperfusion injury (IRI)...
June 6, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28543074/wwc3-regulates-the-wnt-and-hippo-pathways-via-dvls-and-lats1-to-suppress-lung-cancer-invasion-and-metastasis
#8
Qiang Han, Xuyong Lin, Xiupeng Zhang, Guiyang Jiang, Yong Zhang, Yuan Miao, Xuezhu Rong, Xiaoying Zheng, Yong Han, Xu Han, Jingjing Wu, Joachim Kremerskothen, Enhua Wang
The scaffolding protein WWC (WW and C2-domain containing) family is known to regulate cell proliferation and organ size via the Hippo signalling pathway. However, the expression level of WWC3 in human tumours and the mechanisms underlying its role in cellular signal transduction have not yet been reported. Herein, we explored the potential roles of WWC3 in lung cancer cells and the corresponding molecular mechanisms. We found low WWC3 expression in both lung cancer cell lines and lung cancer specimens, which was associated with low differentiation, advanced p-TNM stage, positive lymph node metastasis, and poor prognosis in patients with lung cancer...
May 25, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28543514/angioimmunoblastic-t-cell-lymphoma-more-than-a-disease-of-t-follicular-helper-cells
#9
François Lemonnier, Tak W Mak
Angioimmunoblastic T cell lymphoma (AITL) is one of the most frequent entities of peripheral T cell lymphoma. An AITL has two components: the AITL tumor cells that have a T follicular helper (TFH) cell phenotype, and a surrounding and extensive tumor microenvironment that is populated with various reactive cell types, including B cells. Recurrent TET2 mutations have been described in 50-80% of AITLs, possibly occurring in a hematopoietic progenitor cell. An article published recently in The Journal of Pathology describes the use of microdissection to isolate PD1(+) AITL tumor cells and CD20(+) B cells from the AITL microenvironment and to show that TET2 mutations are actually more frequent in these diseases than previously thought...
May 24, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28497579/modulation-of-basal-cell-fate-during-productive-and-transforming-hpv16-infection-is-mediated-by-progressive-e6-driven-depletion-of-notch
#10
Christian Kranjec, Christina Holleywood, Diane Libert, Heather Griffin, Radma Mahmood, Erin Isaacson, John Doorbar
In stratified epithelia such as the epidermis, homeostasis is maintained by the proliferation of cells in the lower epithelial layers, and the concomitant loss of differentiated cells from the epithelial surface. These differentiating keratinocytes progressively stratify, and form a self-regenerating multi-layered barrier that protects the underlying dermis. In such tissue, the continual loss and replacement of differentiated cells also limits the accumulation of oncogenic mutations within the tissue. Inactivating mutations in key driver genes, such as TP53 and NOTCH1, reduce the proportion of differentiating cells allowing for the long-term persistence of expanding mutant clones in the tissue...
May 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28497484/cd44-variant-isoform-9-emerges-in-response-to-injury-and-contributes-to-the-regeneration-of-the-gastric-epithelium
#11
Nina Bertaux-Skeirik, Mark Wunderlich, Emma Teal, Jayati Chakrabarti, Jacek Biesiada, Maxime Mahe, Nambirajan Sundaram, Joel Gabre, Jennifer Hawkins, Jian Gao, Amy C Engevik, Li Yang, Jiang Wang, James R Goldenring, Joseph E Qualls, Mario Medvedovic, Michael A Helmrath, Tayyab Diwan, James C Mulloy, Yana Zavros
Cluster-of-differentiation gene 44, in particular CD44 variant isoform 9 (CD44v9), emerges during regeneration of the gastric epithelium in response to injury. In particular, CD44v9 is expressed within Spasmolytic Polypeptide/TFF2-Expressing Metaplasia (SPEM) glands during gastric repair, but the function is unknown. Here we tested the hypothesis that age dependent expression of CD44v9 marks a regenerative cell lineage responsive to infiltrating macrophages during regeneration of the gastric epithelium. Acetic acid injury was induced in CD44-deficient (CD44KO) and C57BL/6 (BL6) mice...
May 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28493484/cytoplasmic-overexpression-of-rna-binding-protein-hur-is-a-marker-of-poor-prognosis-in-meningioma-and-hur-knockdown-decreases-meningioma-cell-growth-and-resistance-to-hypoxia
#12
Guillaume Gauchotte, Sébastien Hergalant, Charlène Vigouroux, Jean-Matthieu Casse, Rémi Houlgatte, Tony Kaoma, Déborah Helle, Lydia Brochin, Fabien Rech, Matthieu Peyre, François Labrousse, Laurent Vallar, Jean-Louis Gueant, Jean-Michel Vignaud, Shyue-Fang Battaglia-Hsu
HuR regulates cytoplasmic mRNA stability and translatability, and the HuR expression level has been shown to correlate with poor disease outcome in several cancer types; however, the prognostic value and potential pro-oncogenic properties of HuR in meningioma remain unclear. Thus, in the present study we analyzed 85 meningioma tissue samples to establish the relationship between HuR expression, tumor-cell proliferation, and/or patient survival. In addition, we examined the anti-proliferative effects of HuR knockdown in two meningioma cell lines (IOMM-Lee and Ben-Men1), and conducted transcriptome-wide analyses (IOMM-Lee cells) to elucidate the molecular consequences of HuR knockdown...
May 11, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28493366/frequent-idh2-r172-mutations-in-undifferentiated-and-poorly-differentiated-sinonasal-carcinomas
#13
Snjezana Dogan, Deborah J Chute, Bin Xu, Ryan N Ptashkin, Raghu Chandramohan, Jacklyn Casanova-Murphy, Khedoudja Nafa, Justin A Bishop, Simion I Chiosea, Edward B Stelow, Ian Ganly, David G Pfister, Nora Katabi, Ronald A Ghossein, Michael F Berger
Sinonasal undifferentiated carcinoma (SNUC) is a high-grade malignancy with limited treatment options and poor outcome. A morphological spectrum of 47 sinonasal tumours including 17 (36.2%) SNUCs was analysed at genomic level. Thirty carcinomas (cohort 1) were subjected to a hybridization exon-capture next-generation sequencing assay (MSK-IMPACT(TM) ) to interrogate somatic variants in 279 or 410 cancer-related genes. Seventeen sinonasal tumours (cohort 2) were examined only for the presence of IDH1/2 exon 4 mutations by Sanger sequencing...
May 11, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28466555/hic1-loss-promotes-prostate-cancer-metastasis-by-triggering-epithelial-mesenchymal-transition
#14
Mingang Hao, Yue Li, Jinglong Wang, Jun Qin, Yingying Wang, Yufeng Ding, Min Jiang, Xueqing Sun, Lidong Zu, Kun Chang, Guowen Lin, Jiangyuan Du, Vladimir Korinek, Din-Wei Ye, Jianhua Wang
Metastatic disease is the leading cause of death due to prostate cancer (PCa). Although the HIC1 (hypermethylated in cancer 1) gene has been observed to be epigenetically modified in PCa, its intrinsic role and mechanism in PCa metastasis still remain unsettled. Here we show that hypermethylation of the HIC1 promoter markedly reduces its suppressive function in metastatic PCa tissues compared to primary and adjacent normal prostate tissues, and is associated with poor patient survival. Prostate cancers in cancer-prone mice homozygous for a prostate-targeted Hic1 conditional knockout displayed stronger metastatic behaviour than heterozygous animals, as a result of epithelial-mesenchymal transition (EMT)...
May 3, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28466475/prognostic-role-of-m2-tumour-associated-macrophages-in-lymphoproliferative-disorders
#15
LETTER
Emanuele Cencini, Alberto Fabbri, Monica Bocchia
We read with great interest the recently published paper by De Beule and colleagues showing tumour-associated macrophages (TAMs) influenced survival of multiple myeloma (MM) cells through STAT3 activation.
May 3, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28444909/the-histone-methyltransferase-ezh2-is-a-therapeutic-target-in-small-cell-carcinoma-of-the-ovary-hypercalcaemic-type
#16
Yemin Wang, Shary Yuting Chen, Anthony N Karnezis, Shane Colborne, Nancy Dos Santos, Jessica D Lang, William Pd Hendricks, Krystal A Orlando, Damian Yap, Friedrich Kommoss, Marcel B Bally, Gregg B Morin, Jeffrey M Trent, Bernard E Weissman, David G Huntsman
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a rare but aggressive and untreatable malignancy affecting young women. We and others recently discovered that SMARCA4, a gene encoding the ATPase of the SWI/SNF chromatin-remodelling complex, is the only gene recurrently mutated in the majority of SCCOHT. The low somatic complexity of SCCOHT genomes and the prominent role of the SWI/SNF chromatin-remodelling complex in transcriptional control of genes suggest that SCCOHT cells may rely on epigenetic rewiring for oncogenic transformation...
April 26, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28444899/focal-adhesion-kinase-fak-tyrosine-397e-mutation-restores-the-vascular-leakage-defect-in-endothelium-specific-fak-kinase-dead-mice
#17
Annika N Alexopoulou, Delphine M Lees, Natalia Bodrug, Tanguy Lechertier, Isabelle Fernandez, Gabriela D'Amico, Matthew Dukinfield, Silvia Batista, Bernardo Tavora, Bryan Serrels, Kairbaan Hodivala-Dilke
Focal adhesion kinase (FAK) inhibitors have been developed as potential anticancer agents and are undergoing clinical trials. In vitro activation of the FAK kinase domain triggers autophosphorylation of Y397, Src activation, and subsequent phosphorylation of other FAK tyrosine residues. However, how FAK Y397 mutations affect FAK kinase-dead (KD) phenotypes in tumour angiogenesis in vivo is unknown. We developed three Pdgfb-iCre(ert) -driven endothelial cell (EC)-specific, tamoxifen-inducible homozygous mutant mouse lines: FAK wild-type (WT), FAK KD, and FAK double mutant (DM), i...
April 26, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28418194/accelerated-tumour-metastasis-due-to-interferon-%C3%AE-receptor-mediated-dissociation-of-perivascular-cells-from-blood-vessels
#18
Chen Ni, Pan Ma, Liwei Qu, Fan Wu, Junfeng Hao, Ruirui Wang, Yu Lu, Wei Yang, Ulrike Erben, Zhihai Qin
Angiostasis mediated by interferon (IFN)-γ is a key mechanism of anti-tumour immunity; however, the effect of IFN-γ on host vascular endothelial growth factor A (VEGFA)-expressing cells during tumour progression is still elusive. Here, we developed transgenic mice with IFN-γ receptor (IFNγR) expression under control of the Vegfa promoter (V-γR). In these mice, the IFN-γ responsiveness of VEGFA-expressing cells led to dramatic growth suppression of transplanted lung carcinoma cells. Surprisingly, increased mortality and tumour metastasis were observed in the tumour-bearing V-γR mice, in comparison with the control wild-type and IFNγR-deficient mice...
April 18, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28418093/hypoxia-inducible-factor-1-alpha-does-not-regulate-osteoclastogenesis-but-enhances-bone-resorption-activity-via-prolyl-4-hydroxylase-2
#19
Philippa A Hulley, Tammie Bishop, Aude Vernet, Jurgen E Schneider, James R Edwards, Nick A Athanasou, Helen J Knowles
Osteogenic-angiogenic coupling is promoted by the hypoxia-inducible factor 1-alpha (HIF-1α) transcription factor, provoking interest in HIF activation as a therapeutic strategy to improve osteoblast mineralization and treat pathological osteolysis. However, HIF also enhances the bone-resorbing activity of mature osteoclasts. It is therefore essential to determine the full effect(s) of HIF on both the formation and the bone-resorbing function of osteoclasts in order to understand how they might respond to such a strategy...
April 18, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28418084/epstein-barr-virus-infection-induces-genome-wide-de-novo-dna-methylation-in-non-neoplastic-gastric-epithelial-cells
#20
Keisuke Matsusaka, Sayaka Funata, Masaki Fukuyo, Yasuyuki Seto, Hiroyuki Aburatani, Masashi Fukayama, Atsushi Kaneda
Epstein-Barr virus (EBV)-positive gastric cancer (GC) shows a higher DNA methylation epigenotype. EBV infection can causally induce genome-wide aberrant DNA methylation, as previously demonstrated by in vitro infection experiments in the low-methylation GC cell line MKN7. However, whether EBV exerts DNA methylation remodelling properties in non-neoplastic epithelial cells remains unclear. Here we performed post-infection time-series DNA methylation analyses using the immortalized normal gastric epithelial cell line GES1...
April 18, 2017: Journal of Pathology
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