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Journal of Pathology

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https://www.readbyqxmd.com/read/27925213/the-p53-inhibitor-mdm4-cooperates-with-multiple-genetic-lesions-in-tumorigenesis
#1
Shunbin Xiong, Vinod Pant, Yun Zhang, Neeraj K Aryal, M James You, Donna Kusewitt, Guillermina Lozano
The p53 inhibitor Mdm4 is present at high levels in multiple human cancers. Overexpression of Mdm4 in mice drives spontaneous development of mostly lymphomas and sarcomas. In this study, we explored the ability of Mdm4 to cooperate with other lesions in tumour development. The Mdm4 transgene contributed to mammary tumour development in a BALB/cJ background. High levels of Mdm4 enhanced tumour development in a mutant p53R172H heterozygous background and reduced the need to lose the wild type p53 allele as compared to the mice heterozygous only for the p53R172H mutation...
December 7, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27925203/the-genetic-landscape-of-breast-carcinomas-with-neuroendocrine-differentiation
#2
Caterina Marchiò, Felipe C Geyer, Charlotte Ky Ng, Salvatore Piscuoglio, Maria R De Filippo, Marco Cupo, Anne M Schultheis, Raymond S Lim, Kathleen A Burke, Elena Guerini-Rocco, Mauro Papotti, Larry Norton, Anna Sapino, Britta Weigelt, Jorge S Reis-Filho
Neuroendocrine breast carcinomas (NBCs) account for 2-5% of all invasive breast cancers and are histologically similar to neuroendocrine tumours from other sites. They typically express oestrogen receptor (ER), are HER2-negative and of luminal subtype. Here we sought to define the mutational profile of NBCs, and to investigate whether NBCs and common forms of luminal (ER+/HER2-) breast cancer display distinct repertoires of somatic mutations. Eighteen ER+/HER2- NBCs, defined as harbouring >50% of tumour cells expressing chromogranin A and/or synaptophysin, and matched normal tissue were microdissected and subjected to massively parallel sequencing targeting all exons of 254 genes most frequently mutated in breast cancer and/or related to DNA repair...
December 7, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27917469/association-of-dysfunctional-synapse-defective-1-syde1-with-restricted-fetal-growth-syde1-regulates-placental-cell-migration-and-invasion
#3
Hsiao-Fan Lo, Ching-Yen Tsai, Chie-Pein Chen, Liang-Jie Wang, Yun-Shien Lee, Chia-Yu Chen, Chung-Tiang Liang, Mei-Leng Cheong, Hungwen Chen
The transcription factor glial cells missing 1 (GCM1) regulates trophoblast differentiation and function during placentation. Decreased GCM1 expression is associated with preeclampsia, suggesting that abnormal expression of GCM1 target genes may contribute to the pathogenesis of pregnancy complications. Here we identified a novel GCM1 target gene, synapse defective 1 (SYDE1), which encodes a RhoGAP that is highly expressed in human placenta, and demonstrated that SYDE1 promotes cytoskeletal remodelling and cell migration and invasion...
December 5, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27874193/alk-oncoproteins-in-atypical-inflammatory-myofibroblastic-tumours-novel-rrbp1-alk-fusions-in-epithelioid-inflammatory-myofibroblastic-sarcoma
#4
Jen-Chieh Lee, Chien-Feng Li, Hsuan-Ying Huang, Mei-Jun Zhu, Adrián Mariño-Enríquez, Chung-Ta Lee, Wen-Bin Ou, Jason L Hornick, Jonathan A Fletcher
ALK oncogenic activation mechanisms were characterized in four conventional spindle-cell inflammatory myofibroblastic tumours (IMT) and five atypical IMT, each of which had ALK genomic perturbations. Constitutively activated ALK oncoproteins were purified by ALK immunoprecipitation and electrophoresis, and were characterized by mass spectrometry. The four conventional IMT had TPM3/4-ALK fusions (two cases) or DCTN1-ALK fusions (two cases), whereas two atypical spindle-cell IMT had TFG-ALK and TPM3-ALK fusion in one case each, and three epithelioid inflammatory myofibroblastic sarcomas had RANBP2-ALK fusions in two cases, and a novel RRBP1-ALK fusion in one case...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27873319/lung-neuroendocrine-tumours-deep-sequencing-of-the-four-who-histotypes-reveals-chromatin-remodelling-genes-as-major-players-and-a-prognostic-role-for-tert-rb1-men1-and-kmt2d
#5
Michele Simbolo, Andrea Mafficini, Katarzyna O Sikora, Matteo Fassan, Stefano Barbi, Vincenzo Corbo, Luca Mastracci, Borislav Rusev, Federica Grillo, Caterina Vicentini, Roberto Ferrara, Sara Pilotto, Federico Davini, Giuseppe Pelosi, Rita T Lawlor, Marco Chilosi, Giampaolo Tortora, Emilio Bria, Gabriella Fontanini, Marco Volante, Aldo Scarpa
Next-generation sequencing (NGS) was applied to 148 lung neuroendocrine tumours (LNET) comprising the 4 WHO classification categories: 53 typical carcinoid (TC), 35 atypical carcinoid (AC), 27 large cell neuroendocrine carcinoma (LCNEC), and 33 small cell lung carcinoma (SCLC). A discovery screen was conducted on 46 samples using whole-exome sequencing and high-coverage targeted sequencing of 418 genes. Eighty-eight recurrently mutated genes from both the discovery screen and current literature were verified in the 46 cases of the discovery screen and validated on additional 102 LNET by targeted NGS, and their prevalence was evaluated on the whole series...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27873317/b-cell-activating-factor-signalling-pathway-is-associated-with-h-pylori-independence-in-gastric-malt-lymphoma-without-t-11-18-q21-q21
#6
Sung-Hsin Kuo, Hui-Jen Tsai, Chung-Wu Lin, Kun-Huei Yeh, Hsiao-Wei Lee, Ming-Feng Wei, Chia-Tung Shun, Ming-Shiang Wu, Ping-Ning Hsu, Li-Tzong Chen, Ann-Lii Cheng
We previously reported that activation of the B cell-activating factor (BAFF) pathway upregulates NF-κB and induces BCL3 and BCL10 nuclear translocation in H. pylori (HP)-independent gastric diffuse large B-cell lymphoma (DLBCL) tumours with evidence of mucosa-associated lymphoid tissue (DLBCL [MALT]). However, the significance of BAFF expression in HP-independence of gastric low-grade MALT lymphomas (MALT lymphoma) without t(11;18)(q21;q21) remains unexplored. Sixty-four patients who underwent successful HP eradication for localized HP-positive gastric MALT lymphomas without t(11;18)(q21;q21) were studied...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27873306/activated-leukocyte-cell-adhesion-molecule-alcam-is-a-marker-of-recurrence-and-promotes-cell-migration-invasion-and-metastasis-in-early-stage-endometrioid-endometrial-cancer
#7
Laura Devis, Cristian P Moiola, Nuria Masia, Elena Martinez-Garcia, Maria Santacana, Tomita Vasilica Stirbat, Françoise Brochard-Wyart, Ángel García, Francesc Alameda, Silvia Cabrera, Jose Palacios, Gema Moreno-Bueno, Miguel Abal, William Thomas, Sylvie Dufour, Xavier Matias-Guiu, Anna Santamaria, Jaume Reventos, Antonio Gil-Moreno, Eva Colas
Endometrial cancer is the most common gynaecological cancer in western countries, being the most common subtype of endometrioid tumours. Most patients are diagnosed at an early stage and present an excellent prognosis. However, a number of those continue to suffer recurrence, without means of identification by risk classification systems. Thus, finding a reliable marker to predict recurrence becomes an important unmet clinical issue. ALCAM is a cell-cell adhesion molecule and member of the Immunoglobulin superfamily that has been associated with genesis of many cancers...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27868197/expression-of-a-hepatitis-b-virus-pre-s2-deletion-mutant-in-the-liver-results-in-hepatomegaly-and-hepatocellular-carcinoma-in-mice
#8
Yuan-Chi Teng, Jenq Chyuan Neo, Jaw-Ching Wu, Yi-Fan Chen, Cheng-Heng Kao, Ting-Fen Tsai
Hepatocellular carcinoma (HCC) is the most common form of liver cancer and has a poor prognosis and a low survival rate; its incidence is on the rise. Hepatitis B virus (HBV) infection is one of the main causes of HCC. A high prevalence of pre-S deletions of HBV surface antigen, which encompass T-cell and/or B-cell epitopes, is found in HBV carriers; antiviral therapy and viral immune escape may cause and select for these HBV mutants. In particular, the presence of pre-S2 deletion mutants is an important risk factor associated with cirrhosis and HCC...
November 21, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27861902/the-molecular-basis-of-breast-cancer-pathological-phenotypes
#9
Yujing J Heng, Susan C Lester, Gary M K Tse, Rachel E Factor, Kimberly H Allison, Laura C Collins, Yunn-Yi Chen, Kristin C Jensen, Nicole B Johnson, Jong Cheol Jeong, Rahi Punjabi, Sandra J Shin, Kamaljeet Singh, Gregor Krings, David A Eberhard, Puay Hoon Tan, Konstanty Korski, Frederic M Waldman, David A Gutman, Melinda Sanders, Jorge S Reis-Filho, Sydney R Flanagan, Deena M A Gendoo, Gregory M Chen, Benjamin Haibe-Kains, Giovanni Ciriello, Katherine A Hoadley, Charles M Perou, Andrew H Beck
The histopathological evaluation of morphological features in breast tumours provides prognostic information to guide therapy. Adjunct molecular analyses provide further diagnostic, prognostic and predictive information. However, there is limited knowledge of the molecular basis of morphological phenotypes in invasive breast cancer. This study integrated genomic, transcriptomic and protein data to provide a comprehensive molecular profiling of morphological features in breast cancer. Fifteen pathologists assessed 850 invasive breast cancer cases from The Cancer Genome Atlas (TCGA)...
November 14, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859271/genetics-meets-pathology-an-increasingly-important-relationship
#10
EDITORIAL
David T Bonthron, William D Foulkes
The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of the Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics...
November 14, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859256/proinflammatory-effect-of-hmgb1-on-keratinocytes-an-autocrine-mechanism-underlying-psoriasis-development
#11
Weigang Zhang, Sen Guo, Bing Li, Lin Liu, Rui Ge, Tianyu Cao, Huina Wang, Tianwen Gao, Gang Wang, Chunying Li
Psoriasis is an autoimmune skin disease, in which keratinocytes play a crucial pathogenic role. High-mobility group protein B1 (HMGB1) is an inflammatory factor that can be released from keratinocyte nuclei in psoriatic lesions. We aimed to investigate the proinflammatory effect of HMGB1 on keratinocytes and the contribution of HMGB1 to psoriasis development. Normal human keratinocytes were treated with recombinant human HMGB1, and the production of inflammatory factors and the intermediary signaling pathways were examined...
November 14, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859253/the-many-faces-of-srpk1
#12
Nicholas Bullock, Sebastian Oltean
Serine-arginine protein kinase 1 (SRPK1) phosphorylates proteins involved in the regulation of several mRNA processing pathways including alternative splicing. SRPK1 has been recently reported to be over-expressed in multiple cancers including prostate, breast, lung and glioma. Several studies have shown that inhibition of SRPK1 has anti-tumoural effects and consequently SRPK1 has become a new candidate for targeted therapies. Interestingly, in terms of molecular mechanism, SRPK1 seems to act heterogeneously and has been reported to affect several processes in different cancers, for example angiogenesis in prostate and colon cancer, apoptosis in breast and colon cancer and migration in breast cancer...
November 14, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27861897/genome-evolution-in-ductal-carcinoma-in-situ-invasion-of-the-clones
#13
REVIEW
Anna Casasent, Mary Edgerton, Nicholas E Navin
Ductal Carcinoma In Situ (DCIS) is the most frequently diagnosed early stage breast cancer. Only a subset of patients progress to invasive ductal carcinoma (IDC), and this presents a formidable clinical challenge for determining which patients to treat aggressively and which patients to monitor without therapeutic intervention. Understanding the molecular and genomic basis of invasion has been difficult to study in DCIS cancers due to several technical obstacles, including low tumour cellularity, lack of fresh-frozen tissues, and intratumour heterogeneity...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859368/cancer-predisposition-syndromes-lessons-for-truly-precision-medicine
#14
REVIEW
Mark A Glaire, Matthew Brown, David N Church, Ian Tomlinson
Cancer predisposition syndromes are typically uncommon, monogenic, high-penetrance disorders. Despite their rarity, they have proven to be highly clinically relevant in directing cancer prevention strategies. As such, they share notable similarities with an expanding class of low-frequency somatic mutations that are associated with a striking prognostic or predictive effect in the tumours in which they occur. In this review, we highlight these commonalities, with particular reference to mutations in the proofreading domain of replicative DNA polymerases...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859310/the-pathobiology-of-vascular-malformations-insights-from-human-and-model-organism-genetics
#15
REVIEW
Sarah E Wetzel-Strong, Matthew R Detter, Douglas A Marchuk
Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859262/functional-and-prognostic-significance-of-the-genomic-amplification-of-frizzled-receptor-6-fzd6-in-breast-cancer
#16
Gabriele Corda, Gianluca Sala, Rossano Lattanzio, Manuela Iezzi, Michele Sallese, Giorgia Fragassi, Alessia Lamolinara, Hasan Mirza, Daniela Barcaroli, Sibylle Ermler, Elisabete Silva, Hemad Yasaei, Robert F Newbold, Paola Vagnarelli, Marcella Mottolese, Pier Giorgio Natali, Letizia Perracchio, Jelmar Quist, Anita Grigoriadis, Pierfrancesco Marra, Andrew N Tutt, Mauro Piantelli, Stefano Iacobelli, Vincenzo De Laurenzi, Arturo Sala
Frizzled receptors mediate Wnt ligands' signalling, which is crucially involved in regulating tissue development, differentiation and is often deregulated in cancer. In this study we found that the Wnt receptor frizzled 6 (FZD6) is frequently amplified in breast cancer, with an increased incidence in the triple negative breast cancer (TNBC) subtype. Ablation of FZD6 gene expression in mammary cancer cell lines: a) inhibited motility and invasion b) induced a more symmetric shape of organoid 3D cultures c) inhibited bone and liver metastasis in vivo...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859259/vessel-co-option-is-common-in-human-lung-metastases-and-mediates-resistance-to-anti-angiogenic-therapy-in-preclinical-lung-metastasis-models
#17
Victoria L Bridgeman, Peter B Vermeulen, Shane Foo, Agnes Bilecz, Frances Daley, Eleftherios Kostaras, Mark R Nathan, Elaine Wan, Sophia Frentzas, Thomas Schweiger, Balazs Hegedus, Konrad Hoetzenecker, Ferenc Renyi-Vamos, Elizabeth A Kuczynski, Naveen S Vasudev, James Larkin, Martin Gore, Harold F Dvorak, Sandor Paku, Robert S Kerbel, Balazs Dome, Andrew R Reynolds
Anti-angiogenic therapies have shown limited efficacy in the clinical management of metastatic disease, including lung metastases. Moreover, the mechanisms via which tumours resist anti-angiogenic therapies are poorly understood. Importantly, rather than utilising angiogenesis, some metastases may instead incorporate pre-existing vessels from surrounding tissue (vessel co-option). Since anti-angiogenic therapies were designed to target only new blood vessel growth, vessel co-option has been proposed as a mechanism that could drive resistance to anti-angiogenic therapy...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27859258/motile-and-non-motile-cilia-in-human-pathology-from-function-to-phenotypes
#18
REVIEW
Hannah M Mitchison, Enza Maria Valente
Ciliopathies are inherited human disorders caused by both motile and non-motile cilia dysfunction that form an important and rapidly expanding disease category. Ciliopathies are complex conditions to diagnose, being multisystem disorders characterised by extensive genetic heterogeneity and clinical variability with high levels of lethality. There is marked phenotypic overlap among distinct ciliopathy syndromes that presents a major challenge for their recognition, diagnosis, clinical management, in addition to posing an on-going task to develop the most appropriate family counselling...
November 9, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27801527/hif-1%C3%AE-triggers-long-lasting-glutamate-excitotoxicity-via-system-xc-in-cerebral-ischaemia-reperfusion
#19
Chia-Hung Hsieh, Yu-Jung Lin, Wei-Ling Chen, Yen-Chih Huang, Chi-Wei Chang, Fu-Chou Cheng, Ren-Shyan Liu, Woei-Cherng Shyu
Hypoxia-inducible factor 1α (HIF-1α) controls many genes involved in physiological and pathological processes. However, its roles in glutamatergic transmission and excitotoxicity are unclear. Here, we proposed that HIF-1α might contribute to glutamate-mediated excitotoxicity during cerebral ischaemia-reperfusion (CIR) and investigated its molecular mechanism. We showed that an HIF-1α conditional knockout mouse displayed an inhibition in CIR-induced elevation of extracellular glutamate and N-methyl-D-aspartate receptor (NMDAR) activation...
November 1, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27801498/reciprocal-androgen-receptor-interleukin-6-crosstalk-drives-oesophageal-carcinoma-progression-and-contributes-to-patient-prognosis
#20
Hongmei Dong, Jinjin Xu, Weiwei Li, Jinfeng Gan, Wan Lin, Jierong Ke, Jiali Jiang, Liang Du, Yuping Chen, Xueyun Zhong, Dianzheng Zhang, Sai-Ching Jim Yeung, Xiaotao Li, Hao Zhang
Oesophageal squamous cell carcinoma (ESCC), a leading lethal malignancy of the digestive tract, is characterized by marked gender disparity. Clarifying the roles of the function and regulatory pathway of the androgen receptor (AR) will improve our understanding of oesophageal cancer progression, thereby facilitating the personalized management of ESCC. Here we report evidence to show that AR is a key mediator of inflammatory signals in ESCC cancer progression. High AR expression was associated with poor overall survival in tobacco-using ESCC patients but not in ESCC patients not using tobacco...
November 1, 2016: Journal of Pathology
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