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Vascular tumors mutations

J H Francis, T Milman, H Grossniklaus, D M Albert, R Folberg, G M Levitin, S E Coupland, F Catalanotti, D Rabady, C Kandoth, K J Busam, D H Abramson
PURPOSE: GNAQ mutations have been identified in port wine stains (both syndromic and non-syndromic) and melanocytic ocular neoplasms. This study investigates the presence of GNAQ mutations in diffuse- (those associated with Sturge-Weber syndrome (SWS)) and solitary choroidal hemangiomas. PARTICIPANTS: Tissue from 11 patients with the following diagnoses: port wine stain (n = 3), diffuse choroidal hemangioma (n = 1), solitary choroidal hemangioma (n = 6), choroidal nevus (n =1) METHODS: Ten specimens were interrogated with Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT), a hybridization capture-based next-generation sequencing assay for targeted deep sequencing of all exons and selected introns of 468 key cancer genes in formalin-fixed, paraffin-embedded tumors...
December 8, 2018: Ophthalmology
Beth A Hellerstedt, Nicholas J Vogelzang, Harriet M Kluger, Christopher A Yasenchak, Dana T Aftab, David A Ramies, Michael S Gordon, Primo Lara
INTRODUCTION: Cabozantinib, an orally bioavailable tyrosine kinase inhibitor with activity against MET, vascular endothelial growth factor receptor 2, AXL, ROS1, and RET was assessed in patients with non-small-cell lung carcinoma (NSCLC) as part of a phase II randomized discontinuation trial with cohorts from 9 tumor types. PATIENTS AND METHODS: Patients received cabozantinib 100 mg/day during a 12-week open-label lead-in stage. Those with stable disease per Response Evaluation Criteria in Solid Tumors version 1...
October 24, 2018: Clinical Lung Cancer
Tatsuya Nagano, Motoko Tachihara, Yoshihiro Nishimura
Lung cancer is the leading cause of cancer death worldwide. Molecular targeted therapy has greatly advanced the field of treatment for non-small cell lung cancer (NSCLC), which accounts for the majority of lung cancers. Indeed, gefitinib, which was the first molecular targeted therapeutic agent, has actually doubled the survival time of NSCLC patients. Vigorous efforts of clinicians and researchers have revealed that lung cancer develops through the activating mutations of many driver genes including the epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), c-ros oncogene 1 (ROS1), v-Raf murine sarcoma viral oncogene homolog B (BRAF), and rearranged during transfection (RET) genes...
December 9, 2018: Current Cancer Drug Targets
Abdulaziz Oqalaa Almubarak, Anwar Ul Haq, Ibrahim Alzahrani, Essam Al Shail
Lhermitte-Duclos disease is a rare condition with less than 250 cases reported in the literature. It was considered a neoplastic or hamartomatous growth in the cerebellum. It commonly presents with symptoms of high intracranial pressure or obstructive hydrocephalus. Surgical resection is often curative. The lesion is associated with PTEN gene mutation, and it is considered to be one of the diagnostic criteria of Cowden's syndrome. Vascular tumors are reported in this syndrome, including glioblastomas and meningiomas...
December 5, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
Rohan Garje, Josiah J An, Kevin Sanchez, Austin Greco, Jeffrey Stolwijk, Eric Devor, Youcef Rustum, Yousef Zakharia
In the last two decades, the discovery of various pathways involved in renal cell carcinoma (RCC) has led to the development of biologically-driven targeted therapies. Hypoxia-inducible factors (HIFs), angiogenic growth factors, von Hippel⁻Lindau ( VHL ) gene mutations, and oncogenic microRNAs (miRNAs) play essential roles in the pathogenesis and drug resistance of clear cell renal cell carcinoma. These insights have led to the development of vascular endothelial growth factor (VEGF) inhibitors, Mechanistic target of rapamycin (mTOR) inhibitors, and immunotherapeutic agents, which have significantly improved the outcomes of patients with advanced RCC...
December 1, 2018: International Journal of Molecular Sciences
Jiyoon Seok, Soo-Hyun Yoon, Sun-Hee Lee, Jong Hwa Jung, You Mie Lee
The mutation of isocitrate dehydrogenase (IDH)1 (R132H) and IDH2 (R172K) and the induction of hypoxia in various solid tumors results in alterations in metabolic profiles, including the production of the d‑ or l‑forms of 2‑hydroxyglutarate (2HG) from α‑ketoglutarate in aerobic metabolism in the tricarboxylic acid (TCA) cycle. However, it is unclear whether the oncometabolite d‑2HG increases angiogenesis in endothelial cells. Therefore, in this study, we analyzed the levels of various metabolites, including d‑2HG, under hypoxic conditions and in IDH2R172K mutant breast cancer cells by mass spectrometry...
November 27, 2018: International Journal of Oncology
Jianbo Huang, Xiangyu Wang, Ying Zhu, Zheng Wang, Jianhua Li, Da Xu, Shenghao Wang, Tian-En Li, Lu Lu
BACKGROUND: The hepatitis B virus (HBV)-related intrahepatic cholangiocarcinoma (iCCA) was recognized as a unique subtype of iCCA, within particular features in demography, clinicopathology, and genealogy. However, how they predict prognosis, in particular, for HBV- and non-HBV-related iCCA is still unclear. METHODS: Demographic, clinicopathologic, and genetic features were retrospectively collected and reviewed to determine the specific prognostic factors, precisely predicting the overall survival (OS) in HBV-related (n = 119) and non-HBV-related ( n = 149) iCCA patients, respectively...
November 27, 2018: Journal of Surgical Oncology
Christopher D'Avella, Phillip Abbosh, Sumanta K Pal, Daniel M Geynisman
Renal cell carcinoma (RCC) is a commonly diagnosed and histologically diverse urologic malignancy. Clear cell RCC (ccRCC) is by far the most common, followed by the papillary and chromophobe subtypes. Sarcomatoid differentiation is a morphologic change that can be seen in all subtypes that typically portends a poor prognosis. In the past, treatment options for RCC were limited to cytokine-based therapy with a high-toxicity profile and low response rate. An increased understanding of the molecular basis of RCC has led to substantial improvement in treatment options in the form of targeted therapy and immunotherapy...
November 23, 2018: Urologic Oncology
Sylvie Négrier, Guillaume Moriceau, Valéry Attignon, Véronique Haddad, Daniel Pissaloux, Nicole Guerin, Christian Carrie
BACKGROUND: Renal cell carcinoma represents 3-5% of adult malignant tumors. Metastases are found in 30-40% of patients and brain metastases occurred in more than 10% of them. Despite significant progress in medical treatment, patients with brain metastases still have a limited survival. Cabozantinib, a tyrosine kinase inhibitor directed against vascular endothelial growth factor receptors, was recently registered for the treatment of metastatic renal cell carcinoma. Almost no data are, however, available on patients with brain metastases...
November 25, 2018: Journal of Medical Case Reports
Z Ping Lin, Yong-Lian Zhu, Ying-Chun Lo, Jake Moscarelli, Amy Xiong, Yasmin Korayem, Pamela H Huang, Smith Giri, Patricia LoRusso, Elena S Ratner
PARP inhibitors target BRCA mutations and defective homologous recombination repair (HRR) for the treatment of epithelial ovarian cancer (EOC). However, the treatment of HRR-proficient EOC with PARP inhibitors remains challenging. The objective of this study was to determine whether the combination of triapine (ribonucleotide reductase inhibitor), cediranib (vascular endothelial growth factor receptor tyrosine kinase inhibitor), and the PARP inhibitor olaparib synergized against BRCA wild-type and HRR-proficient EOC in xenograft mouse models...
2018: PloS One
Ying Ma, Danrui Cui, Xiufang Xiong, Hiroyuki Inuzuka, Wenyi Wei, Yi Sun, Brian J North, Yongchao Zhao
The ATR/CHK1 pathway is a key effector of cellular response to DNA damage and therefore is a critical regulator of genomic stability. While the ATR/CHK1 pathway is often inactivated by mutations, CHK1 itself is rarely mutated in human cancers. Thus, cellular levels of CHK1 likely play a key role in the maintenance of genomic stability and preventing tumorigenesis. Glucose deprivation is observed in many solid tumors due to high glycolytic rates of cancer cells and insufficient vascularization, yet cancer cells have devised mechanisms to survive in conditions of low glucose...
November 14, 2018: Molecular Oncology
X R Hu, C Xu, Y Kang, T Wang, Y Zhang, X H Yang
Objective: To investigate the expression of mismatch repair (MMR) proteins (MLH1, MSH2, MSH6 and PMS2) in colorectal cancers and to explore the relationship between MMR expression and clinicopathologic features. Methods: Six hundred and fifty-eight colon cancers were collected from January 2016 to January 2017 at Shengjing Hospital of China Medical University. Of the 658 patients there were 409 male and 249 female. The patients were 20 to 92 years old, with average age of (63±5) years old. Expression of MLH1, MSH2, MSH6 and PMS2 protein was detected by immunohistochemical method...
November 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Yusuke Ishida, Masumi Tsuda, Yutaka Sawamura, Kyoko Fujii, Hiroshi Murai, Naruyoshi Horiuchi, Yasuko Orba, Hirofumi Sawa, William W Hall, Kazuo Nagashima, Shinya Tanaka
A 24 year-old female presented with a mass lesion in the right temporal lobe. This case was difficult to diagnose using histological and immunological methods and therefore molecular analyses were applied to provide a definitive diagnosis. The tumor was well-demarcated, partially cystic, and irregularly-enhanced on gadolinium-enhanced T1-weighted magnetic resonance images. Pathologically, a large part of the tumor consisted of cells with fine cytoplasmic processes on a myxoid and mucinous background. Cells formed a microcystic structure around the mucinous tissue...
November 12, 2018: Pathology International
Hanumant Chouhan, Tarik Sammour, Michelle L Thomas, James W Moore
PURPOSE: The predictive role of biomarkers in colon cancer is still being defined. The aim of this study is to determine the interaction between BRAF mutation and microsatellite instability (MSI) status in determining survival benefit after adjuvant 5-FU based chemotherapy in stage III colon cancer. METHODS: We performed a retrospective cohort study including all curatively resected stage III colon cancer cases over a 33-year period. A clinicopathological database was collated (adjuvant chemotherapy, age, gender, obstruction, perforation, tumor location, grade, mucin, nodal stage, extramural vascular, and perineural invasion)...
November 6, 2018: Journal of Surgical Oncology
Ilona Kaszak, Anna Ruszczak, Szymon Kanafa, Kamil Kacprzak, Magdalena Król, Piotr Jurka
Mammary tumors are the second most common neoplasia in dogs. Due to the high similarity of canine mammary tumors (CMT) to human breast cancers (HBC), human biomarkers of HBC are also detectable in cases of CMT. The evaluation of biomarkers enables clinical diagnoses, treatment options and prognosis for bitches suffering from this disease. The aim of this article is to give a short summary of the biomarkers of CMT based on current literature. Very promising biomarkers are miRNAs, cancer stem cells, and circulating tumor cells, as well as mutations of the breast cancer 1 gene (BRCA1) and breast cancer 2 gene (BRCA2)...
October 29, 2018: Acta Veterinaria Scandinavica
James J Hsieh, Valerie H Le, Toshinao Oyama, Christopher J Ricketts, Thai Huu Ho, Emily H Cheng
Clear cell renal cell carcinoma (ccRCC) is the most common renal cell carcinoma subtype, and metastatic ccRCC is associated with 5-year survival rates of 10% to 20%. Genetically, ccRCC originates from sequential losses of multiple tumor suppressor genes. Remarkably, chromosome 3p loss occurs in more than 90% of sporadic ccRCCs. This results in concurrent one-copy loss of four tumor suppressor genes that are also mutated individually at high frequency in ccRCC (ie, VHL, 80%; PBRM1, 29% to 46%; BAP1, 6% to 19%; and SETD2, 8% to 30%)...
October 29, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Bo-Lun Zhang, Xu Ji, Ling-Xiang Yu, Yuan Gao, Chao-Hui Xiao, Jia Liu, De-Xi Zhao, Yi Le, Guang-Hao Diao, Jia-Yi Sun, Gao-Hua Li, Guang-Lin Lei, Peng Yu, Rui-Lan Wang, Jian-Zhong Wu, Peng-Hui Yang, Jin Yan, Jing-Yu Li, Jia-Jia Xu, Shao-Geng Zhang, Hu Tian
Liver and biliary cancers are highly lethal cancer types lacking effective treatments. The somatic mutations, particularly those with low mutant allele frequencies, in Chinese patients with liver and biliary cancer have not been profiled, and the frequency of patients benefiting from targeted therapy has not been studied. The present study evaluated the tumor tissues of 45 Chinese patients with hepatocellular carcinoma (HCC) and 12 Chinese patients with biliary tract cancer (BTC) by targeted next generation sequencing, with an average coverage of 639×, to identify alterations in 372 cancer-related genes...
November 2018: Oncology Letters
Jiao Xu, Tuochen Zheng, Wenli Hong, Haifeng Ye, Chuan Hu, Yuehui Zheng
The ovary is surrounded by a whitish layer of mesodermally derived ovarian surface epithelium (OSE) that lines the intraembryonic celom and comprises simple squamous to cuboidal to low pseudostratified columnar epithelial cells. Its integrity is maintained by simple desmosomes, incomplete tight junctions, several integrins and cadherins. Recent research has found that ovarian stem cells (OSCs) exist within the OSE and may be responsible for both neo-oogenesis and ovarian cancer during adult life. The factors determining whether OSCs undergo neo-oogenesis or ovarian cancer are of great interest to researchers and clinicians...
2018: Cellular Physiology and Biochemistry
Yanelys Morera-Díaz, Jorge V Gavilondo, Mónica Bequet-Romero, Javier Sánchez Ramírez, Francisco Hernández-Bernal, Katty-Hind Selman-Housein, Lincidio Perez, Marta Ayala-Ávila
HEBERSaVax is a cancer therapeutic vaccine candidate based on the combination of a recombinant antigen representative of human vascular endothelial growth factor (VEGF), and clinically tested adjuvants. The vaccine has been shown to inhibit tumor growth and metastases in mice, and to induce VEGF-blocking antibodies and specific T-cell responses in several animal species, all with an excellent safety profile. After preclinical studies, two sequential phase 1 clinical trials were conducted with HEBERSaVax to assess safety, tolerance, and immunogenicity in patients with advanced solid tumors, at different antigen doses, and combined with two distinct adjuvants...
January 2018: Seminars in Oncology
Ana M Bolivar, Rajyalakshmi Luthra, Meenakshi Mehrotra, Wei Chen, Bedia A Barkoh, Peter Hu, Wei Zhang, Russell R Broaddus
There is currently no blood-based marker in routine use for endometrial cancer patients. Such a marker could potentially be used for early detection, but it could also help to track tumor recurrence following hysterectomy. This is important, as extra-vaginal recurrence of endometrial endometrioid adenocarcinoma is usually incurable. This proof-of-principle study was designed to determine if tumor-associated mutations could be detected in cell-free DNA from the peripheral blood of early and late stage endometrial endometrioid carcinoma patients...
October 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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