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Genetics vascular tumors

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https://www.readbyqxmd.com/read/28813676/pharmacologic-or-genetic-targeting-of-glutamine-synthetase-skews-macrophages-toward-an-m1-like-phenotype-and-inhibits-tumor-metastasis
#1
Erika M Palmieri, Alessio Menga, Rosa Martín-Pérez, Annamaria Quinto, Carla Riera-Domingo, Giacoma De Tullio, Douglas C Hooper, Wouter H Lamers, Bart Ghesquière, Daniel W McVicar, Attilio Guarini, Massimiliano Mazzone, Alessandra Castegna
Glutamine-synthetase (GS), the glutamine-synthesizing enzyme from glutamate, controls important events, including the release of inflammatory mediators, mammalian target of rapamycin (mTOR) activation, and autophagy. However, its role in macrophages remains elusive. We report that pharmacologic inhibition of GS skews M2-polarized macrophages toward the M1-like phenotype, characterized by reduced intracellular glutamine and increased succinate with enhanced glucose flux through glycolysis, which could be partly related to HIF1α activation...
August 15, 2017: Cell Reports
https://www.readbyqxmd.com/read/28802504/cutaneous-malignant-vascular-neoplasms
#2
REVIEW
Wonwoo Shon, Steven D Billings
Accurate diagnosis of cutaneous malignant vascular tumors, including angiosarcoma and epithelioid hemangioendothelioma, is critical for determination of appropriate clinical management and prognosis. Although there have been significant advances in understanding genetic aspects of cutaneous vascular biology, differential diagnosis of malignant vascular tumor involving skin and superficial soft tissue is a frequent source of difficulty. This brief overview highlights the clinicopathologic features of primary and secondary cutaneous angiosarcoma and epithelioid hemangioendothelioma and also provides a short summary of newer molecular data...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28801584/differences-of-protein-expression-profiles-kras-and-braf-mutation-and-prognosis-in-right-sided-colon-left-sided-colon-and-rectal-cancer
#3
Xian Hua Gao, Guan Yu Yu, Hai Feng Gong, Lian Jie Liu, Yi Xu, Li Qiang Hao, Peng Liu, Zhi Hong Liu, Chen Guang Bai, Wei Zhang
To compare protein expression levels, gene mutation and survival among Right-Sided Colon Cancer (RSCC), Left-Sided Colon Cancer (LSCC) and rectal cancer patients, 57 cases of RSCC, 87 LSCC and 145 rectal cancer patients were included retrospectively. Our results demonstrated significant differences existed among RSCC, LSCC and rectal cancer regarding tumor diameter, differentiation, invasion depth and TNM stage. No significant difference was identified in expression levels of MLH1, MSH2, MSH6, PMS2, β-Tubulin III, P53, Ki67 and TOPIIα, and gene mutation of KRAS and BRAF among three groups...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28796347/clinicopathological-analysis-of-atrx-daxx-and-notch-receptor-expression-in-angiosarcomas
#4
Gauri Panse, John S A Chrisinger, Cheuk H Leung, Davis R Ingram, Samia Khan, Khalida Wani, Heather Lin, Alexander J Lazar, Wei-Lien Wang
AIMS: Multiple genetic alterations including alternative lengthening of telomeres (ALT) and NOTCH mutations have been described in angiosarcoma. Loss of ATRX (α-thalessemia/mental retardation syndrome X-linked) and DAXX (death domain-associated 6) expression is frequently associated with the ALT phenotype. Additionally, inhibition of NOTCH signaling induces malignant vascular tumors in mice, indicating a tumor suppressive role of the NOTCH pathway in the pathogenesis of angiosarcoma...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28794363/renal-cell-carcinoma-and-a-pancreatic-neuroendocrine-tumor-a-coincidence-or-instance-of-von-hippel-lindau-disease
#5
Hiroyuki Matsubayashi, Masashi Niwakawa, Katsuhiko Uesaka, Keiko Sasaki, Yoshimi Kiyozumi, Hirotoshi Ishiwatari, Kinichi Hotta, Kenichiro Imai, Sayo Ito, Kohei Takizawa, Masaki Tanaka, Noboru Kawata, Naomi Kakushima, Hiroyuki Ono
We herein report a rare case of a 79-year-old man who presented with the simultaneous occurrence of pancreatic neuroendocrine tumors (PNET) and renal cell carcinomas (RCC), without any other Von Hippel-Lindau (VHL)-associated lesions or any pertinent family history. Computed tomography showed vascular-rich solid lesions in the left kidney and the pancreatic tail, measuring 72 mm and 15 mm in size, respectively. Preoperatively, RCC with pancreatic metastasis was suspected and laparotomy was performed. However, the resected specimens revealed a different tumor histology, namely renal clear cell carcinoma (G2, pT3) and PNET (G1, pT3)...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28756566/pten-hamartoma-of-the-soft-tissue-the-initial-manifestation-of-an-underlying-pten-hamartoma-tumor-syndrome-in-a-4-year-old-female
#6
Charles B Chism, Lindsay Crawford, Amanda Tchakarov, Alyaa Al-Ibraheemi, Nicholas M Beckmann
A 4-year-old female was referred to pediatric orthopedic surgery for left leg pain and limping for 3 months following a motor vehicle collision. Recently, the patient's mother had noted left knee swelling and dragging of the left leg when walking. Past medical history was significant for hip dysplasia with slight leg length discrepancy. The patient was otherwise healthy. Physical examination was remarkable for left pre-patellar soft tissue fullness with normal range of motion. There was no warmth or tenderness...
July 29, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28753786/tumor-xenografts-of-human-clear-cell-renal-cell-carcinoma-but-not-corresponding-cell-lines-recapitulate-clinical-response-to-sunitinib-feasibility-of-using-biopsy-samples
#7
Yiyu Dong, Brandon J Manley, Maria F Becerra, Almedina Redzematovic, Jozefina Casuscelli, Daniel M Tennenbaum, Ed Reznik, Song Han, Nicole Benfante, Ying-Bei Chen, Maria E Arcila, Omer Aras, Martin H Voss, Darren R Feldman, Robert J Motzer, Nicola Fabbri, John H Healey, Patrick J Boland, Mohit Chawla, Jeremy C Durack, Chung-Han Lee, Jonathan A Coleman, Paul Russo, A Ari Hakimi, Emily H Cheng, James J Hsieh
BACKGROUND: Parallel development of preclinical models that recapitulate treatment response observed in patients is central to the advancement of personalized medicine. OBJECTIVE: To evaluate the use of biopsy specimens to develop patient-derived xenografts and the use of corresponding cell lines from renal cell carcinoma (RCC) tumors for the assessment of histopathology, genomics, and treatment response. DESIGN, SETTING, AND PARTICIPANTS: A total of 74 tumor specimens from 66 patients with RCC were implanted into immunocompromised NOD-SCID IL2Rg(-/-) mice...
August 25, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28749108/snp-and-haplotype-analysis-of-vascular-endothelial-growth-factor-vegf-gene-in-lung-cancer-patients-of-kashmir
#8
Niyaz A Naikoo, Dil Afroze, Roohi Rasool, Sonaullah Shah, A G Ahangar, Imtiyaz A Bhat, Iqbal Qasim, Mushtaq A Siddiqi, Zafar A Shah
Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis involving tumor growth and metastasis. In this large case-control study, we investigated whether functional polymorphisms (+405C>G, +936C>T) in the VEGF gene are associated with the risk of lung cancer. The study investigates the association between variants of VEGF gene and lung cancer. We performed single nucleotide polymorphism (SNP), haplotype and linkage disequilibrium studies on 100 patients and 128 healthy controls with 2 SNPs in the VEGF gene...
July 27, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28745442/modification-of-pedicle-lengthening-through-perforator-transposition-in-free-anterolateral-thigh-flaps-with-pedicle-size-discrepancy-a-case-report
#9
Hyun Ho Han, Daiwon Jun, Goo Hyun Mun, Suk-Ho Moon
In spite of thorough presurgical planning, emergency situations requiring longer pedicle length may arise during anterolateral thigh (ALT) free flap surgeries. While performing vessel graft for pedicle lengthening, discrepancy may occur because of a certain genetic predisposition or vascular variation at the anastomosis site of the graft vessel and the flap pedicle. A 76-year-old male patient with neurofibromatosis type I had a 15 x 10 cm defect, which was caused by radical excision of a malignant peripheral nerve sheath tumor on his back...
July 26, 2017: Microsurgery
https://www.readbyqxmd.com/read/28743531/metabolic-regulation-of-glioma-stem-like-cells-in-the-tumor-micro-environment
#10
Tom M Thomas, John S Yu
Cancer metabolism has emerged as one of the most interesting old ideas being revisited from a new perspective. In the early 20th century Otto Warburg declared metabolism the prime cause in a disease of many secondary causes, and this statement seems more prescient in view of modern expositions into the true nature of tumor evolution. As the complexity of tumor heterogeneity becomes more clear from a genetic perspective, it is important to consider the inevitably heterogeneous metabolic components of the tumor and the tumor microenvironment...
July 22, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28741069/microrna-100-shuttled-by-mesenchymal-stem-cell-derived-exosomes-suppresses-in-vitro-angiogenesis-through-modulating-the-mtor-hif-1%C3%AE-vegf-signaling-axis-in-breast-cancer-cells
#11
Katayoon Pakravan, Sadegh Babashah, Majid Sadeghizadeh, Seyed Javad Mowla, Majid Mossahebi-Mohammadi, Farangis Ataei, Nasim Dana, Mohammad Javan
BACKGROUND: Human mesenchymal stem cells (MSCs) have been shown to be involved in the formation and modulation of tumor stroma and in interacting with tumor cells, partly through their secretome. Exosomes are nano-sized intraluminal multi-vesicular bodies secreted by most types of cells and have been found to mediate intercellular communication through the transfer of genetic information via coding and non-coding RNAs to recipient cells. Since exosomes are considered as protective and enriched sources of shuttle microRNAs (miRNAs), we hypothesized that exosomal transfer of miRNAs from MSCs may affect tumor cell behavior, particularly angiogenesis...
July 24, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/28733541/a-validated-transitional-and-translational-porcine-model-of-hepatocellular-carcinoma
#12
Kyle M Schachtschneider, Regina M Schwind, Kwame A Darfour-Oduro, Arun K De, Lauretta A Rund, Kuldeep Singh, Daniel R Principe, Grace Guzman, Charles E Ray, Howard Ozer, Ron C Gaba, Lawrence B Schook
Difficult questions are confronting clinicians attempting to improve hepatocellular carcinoma (HCC) outcomes. A large animal model with genetic, anatomical, and physiological similarities to humans is required to transition from mouse models to human clinical trials to address unmet clinical needs. To validate our previously reported inducible porcine cancer model (Oncopig) as a transitional HCC model, Oncopig hepatocyte cultures were transformed using Cre recombinase. The resulting porcine HCC cells (pHCC) expressed oncogenic TP53R167H and KRASG12D, and displayed nuclear pleomorphisms with pale to granular cytoplasm arranged in expanded plates similar to human HCC histopathology...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28693405/genetics-and-immunodysfunction-underlying-beh%C3%A3-et-s-disease-and-immunomodulant-treatment-approaches
#13
Arash Salmaninejad, Arezoo Gowhari, Seyedmojtaba Hosseini, Saeed Aslani, Meysam Yousefi, Tayyeb Bahrami, Masoume Ebrahimi, Abolfazl Nesaei, Masoud Zal
Behçet's disease (BD) is a chronic autoimmune condition primarily prevalent in populations along the Mediterranean Sea. The exact etiology of BD has not been fully explained yet, but the disease occurrence is associated with a genetic factor, human leukocyte antigen (HLA)-B51 antigen. Among the various immunodysfunctions that are found in BD, patients are increased neutrophil motility and superoxide production, as well as elevated production of tumor necrosis factor (TNF)-α and decreased production of interleukin (IL)-10...
December 2017: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/28685747/assessing-tumor-angiogenesis-in-colorectal-cancer-by-quantitative-contrast-enhanced-endoscopic-ultrasound-and-molecular-and-immunohistochemical-analysis
#14
Elena-Tatiana Cartana, Dan Ionuţ Gheonea, Irina Florina Cherciu, Ioana Streaţa, Constantin-Daniel Uscatu, Elena-Raluca Nicoli, Mihai Ioana, Daniel Pirici, Claudia-Valentina Georgescu, Dragoş-Ovidiu Alexandru, Valeriu Şurlin, Gabriel Gruionu, Adrian Săftoiu
BACKGROUND AND OBJECTIVES: Data on contrast-enhanced endoscopic ultrasound (CE-EUS) for colorectal cancer (CRC) evaluation are scarce. Therefore, we aimed to assess the vascular perfusion pattern in CRC by quantitative CE-EUS and compare it to immunohistochemical and genetic markers of angiogenesis. PATIENTS AND METHODS: We performed a retrospective analysis of CE-EUS examinations of 42 CRC patients, before any therapy. CE-EUS movies were processed using a dedicated software...
July 6, 2017: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/28685434/computational-simulation-of-tumor-hypoxia-based-on-in-vivo-microvasculature-assessed-in-a-dorsal-skin-window-chamber
#15
Lina Xu, Peter Vaupel, Siwei Bai, Bjoern Menze, Kuangyu Shi
Malignant growth usually leads to the depletion of oxygen (O2) supply in most solid tumors. Hypoxia can cause resistance to standard radiotherapy, some chemotherapy and immunotherapy. Furthermore, it can also trigger malignant progression by modulating gene expression and inducing genetic instability. The relationship between microvasculature, perfusion and tumor hypoxia has been intensively studied and many computational simulations have been developed to model tissue O2 transport. Usually simplified 2D phantoms are used to investigate tumor hypoxia and it is assumed that vessels are perpendicular to the region of interest and randomly distributed across the domain...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28677655/epithelial-to-pericyte-transition-in-cancer
#16
REVIEW
Jianrong Lu, Anitha K Shenoy
During epithelial-to-mesenchymal transition (EMT), cells lose epithelial characteristics and acquire mesenchymal properties. These two processes are genetically separable and governed by distinct transcriptional programs, rendering the EMT outputs highly heterogeneous. Our recent study shows that the mesenchymal products generated by EMT often express multiple pericyte markers, associate with and stabilize blood vessels to fuel tumor growth, thus phenotypically and functionally resembling pericytes. Therefore, some EMT events represent epithelial-to-pericyte transition (EPT)...
July 4, 2017: Cancers
https://www.readbyqxmd.com/read/28672935/next-generation-sequencing-reveals-lymph-node-metastasis-associated-genetic-markers-in-colorectal-cancer
#17
Ni Xie, Yujiang Yao, Lili Wan, Ting Zhu, Litao Liu, Jianhui Yuan
Colorectal cancer is the third most prevalent type of cancer in the United States. Early diagnosis of lymph node metastases is essential to improve the prognosis for patients with colorectal cancer. Therefore, the present study aimed to screen genetic markers, including single nucleotide polymorphisms (SNPs), copy number variations (CNVs) and mRNA expression, associated with lymph node metastases in patients with colorectal cancer to enable an early diagnosis. Targeted next-generation sequencing was applied to capture SNPs and CNVs in tumor-related candidate genes within tumor tissues from 39 colorectal cancer patients; reverse transcription-quantitative polymerase chain reaction was used to detect the specific mRNA level of tumor-related candidate genes, including vascular endothelial growth factor C, cyclin-A2, Interleukin-2, ATP-binding cassette sub-family G member 2, epidermal growth factor (EGF) and nuclear factor kappa B subunit 1 (NFKB1) on chromosome 4...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28670139/younger-age-is-an-independent-predictor-of-worse-prognosis-among-lebanese-nonmetastatic-breast-cancer-patients-analysis-of-a-prospective-cohort
#18
Alissar El Chediak, Raafat S Alameddine, Ayman Hakim, Lara Hilal, Sarah Abdel Massih, Lana Hamieh, Deborah Mukherji, Sally Temraz, Maya Charafeddine, Ali Shamseddine
BACKGROUND: Several retrospective studies have reported that younger age at presentation is associated with a worse prognosis for nonmetastatic breast cancer patients. In this study, we prospectively assessed the association between different baseline characteristics (age, tumor characteristics, mode of treatment, etc) and outcomes among newly diagnosed nonmetastatic Lebanese breast cancer patients. METHODS: We recruited a sample of 123 women newly diagnosed with nonmetastatic breast cancer presenting to American University of Beirut Medical Center...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28667334/3-utr-polymorphisms-of-carbonic-anhydrase-ix-determine-the-mir-34a-targeting-efficiency-and-prognosis-of-hepatocellular-carcinoma
#19
Kuo-Tai Hua, Yu-Fan Liu, Chia-Lang Hsu, Tsu-Yao Cheng, Ching-Yao Yang, Jeng-Shou Chang, Wei-Jiunn Lee, Michael Hsiao, Hsueh-Fen Juan, Ming-Hsien Chien, Shun-Fa Yang
Carbonic anhydrase IX (CA9) expression level has been considered as a poor prognostic factor in hepatocellular carcinoma (HCC) patients. However, the judging criteria of CA9 level is hard to define for potential clinical applications. Unlike CA9 expression level, CA9 polymorphism is poorly documented in HCC. Here, we found that people carry A allele at CA9 rs1048638, a 3'UTR SNP, has higher risk of HCC. rs1048638-CA correlates with advanced stages, larger tumor sizes, more vascular invasion, and shorter survival of HCC patients...
June 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28655553/variant-discovery-in-patients-with-mendelian-vascular-anomalies-by-next-generation-sequencing-and-their-use-in%C3%A2-patient-clinical-management
#20
Raul Mattassi, Elena Manara, Pier Giuseppe Colombo, Sofia Manara, Antonella Porcella, Giulia Bruno, Alice Bruson, Matteo Bertelli
OBJECTIVE: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes...
June 24, 2017: Journal of Vascular Surgery
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