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https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#1
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#2
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28499784/gsk-3-as-a-novel-prognostic-indicator-in-leukemia
#3
REVIEW
Peter P Ruvolo
While leukemias represent a diverse set of diseases with malignant cells derived from myeloid or lymphoid origin, a common feature is the dysregulation of signal transduction pathways that influence leukemogeneisis, promote drug resistance, and favor leukemia stem cells. Mutations in PI3K, PTEN, RAS, or other upstream regulators can activate the AKT kinase which has central roles in supporting cell proliferation and survival. A major target of AKT is Glycogen Synthase Kinase 3 (GSK3). GSK3 has two isoforms (alpha and beta) that were studied as regulators of metabolism but emerged as central players in cancer in the early 1990s...
May 8, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28488123/ido-pten-expressing-tregs-and-control-of-antigen-presentation-in-the-murine-tumor-microenvironment
#4
REVIEW
David H Munn, Madhav D Sharma, Theodore S Johnson, Paulo Rodriguez
The tumor microenvironment is profoundly immunosuppressive. This creates a major barrier for attempts to combine immunotherapy with conventional chemotherapy or radiation, because the tumor antigens released by these cytotoxic agents are not cross-presented in an immunogenic fashion. In this Focused Research Review, we focus on mouse preclinical studies exploring the role of immunosuppressive Tregs expressing the PTEN lipid phosphatase, and the links between PTEN+ Tregs and the immunoregulatory enzyme indoleamine 2,3-dioxygenase (IDO)...
May 9, 2017: Cancer Immunology, Immunotherapy: CII
https://www.readbyqxmd.com/read/28477068/the-role-of-mir-130a-in-cancer
#5
REVIEW
He-da Zhang, Lin-Hong Jiang, Da-Wei Sun, Jian Li, Zhen-Ling Ji
MicroRNAs (miRs) are short and highly conserved non-coding RNAs molecules consisting of 18-25 nucleotides that regulate gene expression at post-transcriptional level by direct binding to complementary binding sites within the 3'untranslated region (3'UTR) of target mRNAs. New evidences have demonstrated that miRNAs play an important role in diverse physiological processes, including regulating cell growth, apoptosis, metastasis, drug resistance, and invasion. In chromosomes 11 and 22 of the miR-130 family, paralogous miRNA sequences, miR-130a and miR-130b are situated, respectively...
May 5, 2017: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/28446316/-prognostic-value-of-recurrent-molecular-genetics-and-epigenetics-abnormity-in-t-lymphoblastic-lymphoma-leukemia-review
#6
Wei Guan, Yu Jing, Li Yu
T lymphoblastic lymphoma / leukemia is a strong invasive and has a high incidence of various molecular genetic abnormalities. The NOTCH1 / FBXW7 mutation is one of the most common mutations, and related with good prognosis in T-LBL / ALL. PTEN mutation, a poor prognostic factor, could be overcome by NOTCH1 mutations in pediatric patients to some extent. Patients with MLL gene abnormality and loss of heterozygosity 6q have worse prognosis than those with normal karyotype. The incidence of MLL gene abnormality, RUNX1 mutation and DNMT3A mutation in early precursor T-lymphoblastic leukemia was higher than that of other mature subtypes, which could be used as risk stratification factors...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#7
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28413152/loss-of-pten-expression-is-associated-with-high-microrna-24-level-and-poor-prognosis-in-patients-with-tongue-squamous-cell-carcinoma
#8
Jingzhu Zhao, Jiadong Chi, Ming Gao, Jingtai Zhi, Yigong Li, Xiangqian Zheng
PURPOSE: The aim of this study was to detect the relationship between phosphatase and tensin homolog deletion on chromosome 10 (PTEN) and microRNA 24 (miR-24) and correlate PTEN expression with important clinical parameters of patients with tongue squamous cell carcinoma (TSCC). MATERIALS AND METHODS: In this retrospective case series, all TSCC patients treated at Tianjin Medical University Cancer Institute and Hospital between March 2005 and October 2011 were retrospectively reviewed...
March 23, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28399347/conjunctival-tumors-review-of-clinical-features-risks-biomarkers-and-outcomes-the-2017-j-donald-m-gass-lecture
#9
Carol L Shields, Jason L Chien, Thamolwan Surakiatchanukul, Kareem Sioufi, Sara E Lally, Jerry A Shields
Conjunctival tumors encompass a broad range of diagnoses. The 3 most important malignant tumors include ocular surface squamous neoplasia (OSSN) (14%), melanoma (12%), and lymphoma (7%). Conjunctival malignancies are rarely found in children. Regarding OSSN, pre-disposing conditions include chronic solar radiation, immune deficiency (HIV), organ transplant, autoimmune conditions, xeroderma pigmentosum, and chronic exposure to cigarette smoke. OSSN is managed surgically or with topical/injection immunotherapy or chemotherapy...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28396890/cowden-syndrome-%C3%A2-oral-presentations-of-a-paraneoplastic-syndrome-%C3%A2-case-report-and-review-of-the-literature
#10
Snober Tariq, Joseph Katz
Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors with unique oral manifestations. We present a case of Cowden syndrome in a patient diagnosed with breast cancer, traumatic fibromas, bronchial asthma, and multiple papillomatous fibromatosis of the oral cavity. Close association between oral papillomatosis associated with Cowden syndrome and PTEN gene mutation may increase the risk for malignant transformation. Therefore, patients of Cowden syndrome should be monitored carefully for all kinds of cancers...
2017: Quintessence International
https://www.readbyqxmd.com/read/28377483/vulvar-squamous-cell-carcinoma-vscc-as-two-diseases-hpv-status-identifies-distinct-mutational-profiles-including-oncogenic-fibroblast-growth-factor-receptor-3
#11
Johanne I Weberpals, Bryan Lo, Marc M Duciaume, Johanna N Spaans, Aisling A Clancy, Jim Dimitroulakos, Glenwood D Goss, Harman S Sekhon
PURPOSE: Patients with advanced or recurrent invasive vulvar squamous cell carcinoma (VSCC) have limited treatment options and a grave prognosis. Understanding the genomic landscape may facilitate the identification of new therapies and improve clinical outcomes. EXPERIMENTAL DESIGN: A retrospective chart review and molecular analysis of patients with VSCC from 2000-2016 was performed at the Ottawa Hospital Research Institute. The presence of oncogenic HPV was determined by nested PCR and amplified DNA was sequenced using the Ion AmpliSeq Cancer Hotspot v2 Panel...
April 4, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28289089/molecular-pathways-oncologic-pathways-and-their-role-in-t-cell-exclusion-and-immune-evasion-a-new-role-for-the-axl-receptor-tyrosine-kinase
#12
Todd A Aguilera, Amato J Giaccia
With the clinical impact of CTLA-4 and PD-1/PD-L1 immune checkpoint therapies, widespread interest in cancer immunotherapy has been ignited. However, the rate and extent of clinical responses to approved therapies are limited and often non-existent in many solid tumors. This is partially because immune checkpoint therapies are most effective against T-cell inflamed tumors, and non-T-cell inflamed or T-cell excluded tumors remain a significant barrier. New strategies are needed to overcome immune resistance mechanisms that arise during tumor development which result in T-cell exclusion...
March 13, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#13
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28277880/genomic-tests-to-guide-prostate-cancer-management-following-diagnosis
#14
Michele Colicchia, Alessandro Morlacco, John C Cheville, R Jeffrey Karnes
Prostate cancer (PCa) is a common cancer in men, but variable clinical behaviors make its management challenging. Risk stratification is a key issue in disease management. Patient-tailored strategies are strongly advocated to reduce unnecessary treatment while maximizing the oncological outcomes of patient who need active treatment in the primary, adjuvant or salvage setting. Recently, tissue-based biomarkers or genomic tests have become available to improve the clinical decision-making. Areas covered: In this review, the authors present recent evidence about these tissue-based biomarkers, discussing the application of each of them in the clinical setting, focusing on the tests aimed to provide a better risk stratification and to guide decision-making after the diagnosis of PCa (i...
March 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28273718/mechanisms-of-parkinson-s-disease-related-proteins-in-mediating-secondary-brain-damage-after-cerebral-ischemia
#15
TaeHee Kim, Raghu Vemuganti
Both Parkinson's disease (PD) and stroke are debilitating conditions that result in neuronal death and loss of neurological functions. These two conditions predominantly affect aging populations with the deterioration of the quality of life for the patients themselves and a tremendous burden to families. While the neurodegeneration and symptomology of PD develop chronically over the years, post-stroke neuronal death and dysfunction develop rapidly in days. Despite the discrepancy in the pathophysiological time frame and severity, both conditions share common molecular mechanisms that include oxidative stress, mitochondrial dysfunction, inflammation, endoplasmic reticulum stress, and activation of various cell death pathways (apoptosis/necrosis/autophagy) that synergistically modulate the neuronal death...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28271698/ovarian-cancer-in-endometriosis-an-update-on-the-clinical-and-molecular-aspects
#16
Rachel Ruderman, Mary Ellen Pavone
While endometriosis is a benign condition, the presence of endometriosis has been associated with the development of several types of cancers, including ovarian. Endometriomas, or ovarian endometriotic cysts, are found in 17-44% of patients with endometriosis, and may be a common precursor lesions to ovarian cancer. Endometriosis associated ovarian cancer is especially prominent in endometrioid and clear cell ovarian tumor histological subtypes. Several common pathways linking endometriosis and ovarian cancer have been elucidated, including the dominance of certain cytokines, oxidative stress, and a hyper-estrogenic hormonal milieu, which propagate both endometriosis and endometriosis associated ovarian cancer...
June 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28263037/loss-of-phosphatase-and-tensin-homolog-expression-correlates-with-clinicopathological-features-of-non-small-cell-lung-cancer-patients-and-its-impact-on-survival-a-systematic-review-and-meta-analysis
#17
Yongsheng Zhao, Renyan Zheng, Jian Li, Feng Lin, Lunxu Liu
BACKGROUND: Phosphatase and tensin homolog ( PTEN ), regarded as a tumor suppressor gene, may act as a prognostic biomarker in human cancers. METHODS: All eligible studies from MEDLINE, Embase, CENTRAL, and the Chinese BioMedical Literature Database to October 2016 were incorporated. Two reviewers independently screened the literature according to inclusion and exclusion criteria, extracted the data, assessed the methodological quality of the included studies, and conducted meta-analysis...
May 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28262306/immunohistochemical-analysis-of-pten-her2-neu-and-ki67-expression-in-patients-with-gastric-cancer-and-their-association-with-survival
#18
Dalia M Badary, Mostafa E Abdel-Wanis, Mohamed Z Hafez, Noha A Aboulhagag
BACKGROUND: Considering the poor prognosis of patients with gastric cancer, molecular diagnostic and prognostic markers for this cancer should be established. The aims of our study were to assess the correlations between PTEN, HER2/neu, and Ki67 expressions and clinicopathological factors of gastric cancer patients in upper Egypt, as well as their influence on OS and DFS. PATIENTS AND METHODS: In this descriptive-analytic study, 42 patients with gastric carcinoma treated by postioerative chemoradiation between 2004 and 2014...
February 24, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28259754/mc1r-signaling-intracellular-partners-and-pathophysiological-implications
#19
REVIEW
Cecilia Herraiz, Jose C Garcia-Borron, Celia Jiménez-Cervantes, Conchi Olivares
The melanocortin-1 receptor (MC1R) preferentially expressed in melanocytes is best known as a key regulator of the synthesis of epidermal melanin pigments. Its paracrine stimulation by keratinocyte-derived melanocortins also activates DNA repair pathways and antioxidant defenses to build a complex, multifaceted photoprotective response. Many MC1R actions rely on cAMP-dependent activation of two transcription factors, MITF and PGC1α, but pleiotropic MC1R signaling also involves activation of mitogen-activated kinases and AKT...
March 1, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28222667/curcumin-inhibits-cancer-progression-through-regulating-expression-of-micrornas
#20
REVIEW
Siying Zhou, Sijie Zhang, Hongyu Shen, Wei Chen, Hanzi Xu, Xiu Chen, Dawei Sun, Shanliang Zhong, Jianhua Zhao, Jinhai Tang
Curcumin, a major yellow pigment and spice in turmeric and curry, is a powerful anti-cancer agent. The anti-tumor activities of curcumin include inhibition of tumor proliferation, angiogenesis, invasion and metastasis, induction of tumor apoptosis, increase of chemotherapy sensitivity, and regulation of cell cycle and cancer stem cell, indicating that curcumin maybe a strong therapeutic potential through modulating various cancer progression. It has been reported that microRNAs as small noncoding RNA molecules are related to cancer progression, which can be regulated by curcumin...
February 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
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