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https://www.readbyqxmd.com/read/28933335/re-evaluating-ttf-1-immunohistochemistry-in-diffuse-gliomas-expression-is-clonedependent-and-associated-with-tumor-location
#1
Drew Pratt, Nina Afsar, Michael Allgauer, Patricia Fetsch, Maryknoll Palisoc, Stefania Pittaluga, Martha Quezado
TTF-1 is widely used as a marker in routine surgical pathology in the work-up of malignancy. Aberrant expression of TTF-1 in extrapulmonary and extrathyroidal malignancies is a frequently reported phenomenon. In addition to the recently characterized pituicyte-derived tumors of the sella, immunoreactivity has been reported in diffuse gliomas with the SPT24 clone. Here, we sought to evaluate TTF-1 expression with three commercially available clones in a large series of gliomas. Expression was compared across the newly defined diagnostic entities in the 2016 WHO Classification of CNS Tumors...
September 21, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28912153/comprehensive-genomic-profiling-of-282-pediatric-low-and-high-grade-gliomas-reveals-genomic-drivers-tumor-mutational-burden-and-hypermutation-signatures
#2
Adrienne Johnson, Eric Severson, Laurie Gay, Jo-Anne Vergilio, Julia Elvin, James Suh, Sugganth Daniel, Mandy Covert, Garrett M Frampton, Sigmund Hsu, Glenn J Lesser, Kimberly Stogner-Underwood, Ryan T Mott, Sarah Z Rush, Jennifer J Stanke, Sonika Dahiya, James Sun, Prasanth Reddy, Zachary R Chalmers, Rachel Erlich, Yakov Chudnovsky, David Fabrizio, Alexa B Schrock, Siraj Ali, Vincent Miller, Philip J Stephens, Jeffrey Ross, John R Crawford, Shakti H Ramkissoon
BACKGROUND: Pediatric brain tumors are the leading cause of death for children with cancer in the U.S. Incorporating next-generation sequencing data for both pediatric low-grade (pLGGs) and high-grade gliomas (pHGGs) can inform diagnostic, prognostic, and therapeutic decision-making. MATERIALS AND METHODS: We performed comprehensive genomic profiling on 282 pediatric gliomas (157 pHGGs, 125 pLGGs), sequencing 315 cancer-related genes and calculating the tumor mutational burden (TMB; mutations per megabase [Mb])...
September 14, 2017: Oncologist
https://www.readbyqxmd.com/read/28905256/erratum-to-imaging-correlates-for-the-2016-update-on-who-classification-of-grade-ii-iii-gliomas-implications-for-idh-1p-19q-and-atrx-status
#3
Rachel L Delfanti, David E Piccioni, Jason Handwerker, Naeim Bahrami, AnithaPriya Krishnan, Roshan Karunamuni, Jona A Hattangadi-Gluth, Tyler M Seibert, Ashwin Srikant, Karra A Jones, Vivian S Snyder, Anders M Dale, Nathan S White, Carrie R McDonald, Nikdokht Farid
In the initial online publication, the values in the last two rows in Table 1 were in the wrong rows. The original article has been corrected.
September 13, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28880421/diffuse-midline-gliomas-with-histone-h3-k27m-mutation-a-rare-case-with-pnet-like-appearance-and-neuropil-like-islands
#4
Yue Gao, Yang-Yang Feng, Juan-Han Yu, Qing-Chang Li, Xue-Shan Qiu, En-Hua Wang
Diffuse midline glioma with histone H3-K27M mutation is a new tumor entity defined by the 2016 WHO Classification of Tumors of the Central Nervous System. A 51-year-old Chinese woman presented with neck pain for a month. Subsequent MRI revealed an intramedullary neoplasm extending from C5 to C7. Histologically, the cellular area of the tumor was composed of primitive, poorly differentiated, small cells with scant cytoplasm, nuclear molding, and brisk mitotic activity, exhibiting PNET-like appearance, while in the hypocellular area, oligodendroglioma-like cells were observed...
September 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28877067/diagnostic-and-prognostic-biomarkers-of-adrenal-cortical-carcinoma
#5
Ozgur Mete, Hasan Gucer, Mehmet Kefeli, Sylvia L Asa
The diagnosis of low-grade adrenal cortical carcinoma (ACC) confined to the adrenal gland can be challenging. Although there are diagnostic and prognostic molecular tests for ACC, they remain largely unutilized. We examined the diagnostic and prognostic value of altered reticulin framework and the immunoprofile of biomarkers including IGF-2, proteins involved in cell proliferation and mitotic spindle regulation (Ki67, p53, BUB1B, HURP, NEK2), DNA damage repair (PBK, γ-H2AX), telomere regulation (DAX, ATRX), wnt-signaling pathway (beta-catenin) and PI3K signaling pathway (PTEN, phospho-mTOR) in a tissue microarray of 50 adenomas and 43 carcinomas that were characterized for angioinvasion as defined by strict criteria, Weiss score, and mitotic rate-based tumor grade...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28871469/imaging-correlates-for-the-2016-update-on-who-classification-of-grade-ii-iii-gliomas-implications-for-idh-1p-19q-and-atrx-status
#6
Rachel L Delfanti, David E Piccioni, Jason Handwerker, Naeim Bahrami, AnithaPriya Krishnan, Roshan Karunamuni, Jona A Hattangadi-Gluth, Tyler M Seibert, Ashwin Srikant, Karra A Jones, Vivian S Snyder, Anders M Dale, Nathan S White, Carrie R McDonald, Nikdokht Farid
The 2016 World Health Organization Classification of Tumors of the Central Nervous System incorporates the use of molecular information into the classification of brain tumors, including grade II and III gliomas, providing new prognostic information that cannot be delineated based on histopathology alone. We hypothesized that these genomic subgroups may also have distinct imaging features. A retrospective single institution study was performed on 40 patients with pathologically proven infiltrating WHO grade II/III gliomas with a pre-treatment MRI and molecular data on IDH, chromosomes 1p/19q and ATRX status...
September 4, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28869450/idh1-status-is-significantly-different-between-high-grade-thalamic-and-superficial-gliomas
#7
Mingrong Zuo, Mao Li, Ni Chen, Tianping Yu, Bing Kong, Ruofei Liang, Xiang Wang, Qing Mao, Yanhui Liu
BACKGROUND: While major progress has been made in diagnosis and treatment of gliomas based on molecules, molecular features of thalamic glioma have rarely been reported till now. OBJECTIVE: IDH1 mutation is important for prognosis of gliomas and represents a distinctive category of glioma. We intended to survey specific molecular abnormalities in high-grade thalamic gliomas (WHO III-IV). METHODS: We collected data of 50 and 93 newly diagnosed high-grade thalamic and superficial glioma patients respectively and conducted a comparative analysis of molecular characteristics between them...
August 23, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28855512/atrx-is-a-regulator-of-therapy-induced-senescence-in-human-cells
#8
Marta Kovatcheva, Will Liao, Mary E Klein, Nicolas Robine, Heather Geiger, Aimee M Crago, Mark A Dickson, William D Tap, Samuel Singer, Andrew Koff
Senescence is a state of stable cell cycle exit with important implications for development and disease. Here, we demonstrate that the chromatin remodeling enzyme ATRX is required for therapy-induced senescence. ATRX accumulates in nuclear foci and is required for therapy-induced senescence in multiple types of transformed cells exposed to either DNA damaging agents or CDK4 inhibitors. Mobilization into foci depends on the ability of ATRX to interact with H3K9me3 histone and HP1. Foci form soon after cells exit the cell cycle, before other hallmarks of senescence appear...
August 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28823098/modified-rapid-immunohistochemical-staining-for-intraoperative-diagnosis-of-malignant-brain-tumors
#9
Akane Suzuki, Takashi Maruyama, Masayuki Nitta, Takashi Komori, Soko Ikuta, Takakazu Kawamata, Yoshihiro Muragaki
Rapid immunohistochemistry (R-IHC) has been developing mainly as a support technique in the rapid diagnosis of central nervous system tumors; however, there have been problems regarding instability in specimen preparation and immunostaining. To overcome the weakness of this technology, the instability of immunostaining, we developed a modified R-IHC. This was achieved by switching to 4% paraformaldehyde as the fixative solution and utilizing a commercially available Polymer Refine Detection Kit, as a high-sensitivity kit, in place of the secondary antibodies...
August 19, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28823044/diagnostic-implications-of-tert-promoter-mutation-status-in-diffuse-gliomas-in-a-routine-clinical-setting
#10
Ekkehard Hewer, Nadine Prebil, Sabina Berezowska, Marielena Gutt-Will, Philippe Schucht, Matthias S Dettmer, Erik Vassella
IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong to the IDH-wildtype category, which is defined by exclusion. TERT (telomerase reverse transcriptase gene) promoter mutations have been suggested as a molecular marker for primary glioblastomas. We analyzed molecular, histopathological, and clinical profiles of a series of 110 consecutive diffuse gliomas (WHO grades II-IV) diagnosed at our institution, in which TERT promoter mutation analysis had been performed as part of diagnostic work-up...
August 19, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28801347/a-simple-algorithmic-approach-using-histology-and-immunohistochemistry-for-the-current-classification-of-adult-diffuse-glioma-in-a-resource-limited-set-up
#11
R T Rajeswarie, Shilpa Rao, Bevinahalli N Nandeesh, T Chickabasaviah Yasha, Vani Santosh
AIMS: The WHO 2016 classification of diffuse gliomas combines histological and molecular parameters for diagnosis. However, in view of cost constraints for molecular testing, an economical working formula is essential to reach a meaningful diagnosis in a resource-limited setting. The aim of this study was to establish a practical algorithmic approach using histology and immunohistochemistry (IHC) in the classification of diffuse gliomas in such a set-up. METHODS: Diffuse gliomas of WHO grade II and III diagnosed in our institute in the year 2016 were analysed for histological and IHC features, using the markers isocitrate dehydrogenase 1 (IDH1R132H) and α thalassemia/mental retardation syndrome X-linked gene (ATRX)...
August 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28796347/clinicopathological-analysis-of-atrx-daxx-and-notch-receptor-expression-in-angiosarcomas
#12
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/28795231/radiation-induced-gliomas-a-report-of-four-cases-and-analysis-of-molecular-biomarkers
#13
Tsunehito Nakao, Yasuo Sasagawa, Sumihito Nobusawa, Yasushi Takabatake, Hemragul Sabit, Masashi Kinoshita, Katsuyoshi Miyashita, Yasuhiko Hayashi, Hideaki Yokoo, Mitsutoshi Nakada
Radiation-induced glioma (RIG) is a rare secondary glioma. The tumors morphologically resemble their sporadically arising counterparts. Recently, the WHO classification of tumors of the central nervous system was revised to incorporate molecular biomarkers together with classic histological features. The status of molecular biomarkers in RIG, however, remains unclear. The objective of this study was to investigate if commonly accepted glioma-specific biomarkers are relevant in RIGs. Among 269 gliomas diagnosed as WHO grade 2, 3 and 4 in our institution, four were diagnosed as RIGs...
August 9, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28776573/pancreatic-intraductal-tubulopapillary-neoplasm-is-genetically-distinct-from-intraductal-papillary-mucinous-neoplasm-and-ductal-adenocarcinoma
#14
Olca Basturk, Michael F Berger, Hiroshi Yamaguchi, Volkan Adsay, Gokce Askan, Umesh K Bhanot, Ahmet Zehir, Fatima Carneiro, Seung-Mo Hong, Giuseppe Zamboni, Esra Dikoglu, Vaidehi Jobanputra, Kazimierz O Wrzeszczynski, Serdar Balci, Peter Allen, Naoki Ikari, Shoko Takeuchi, Hiroyuki Akagawa, Atsushi Kanno, Tooru Shimosegawa, Takanori Morikawa, Fuyuhiko Motoi, Michiaki Unno, Ryota Higuchi, Masakazu Yamamoto, Kyoko Shimizu, Toru Furukawa, David S Klimstra
Intraductal tubulopapillary neoplasm is a relatively recently described member of the pancreatic intraductal neoplasm family. The more common member of this family, intraductal papillary mucinous neoplasm, often carries genetic alterations typical of pancreatic infiltrating ductal adenocarcinoma (KRAS, TP53, and CDKN2A) but additionally has mutations in GNAS and RNF43 genes. However, the genetic characteristics of intraductal tubulopapillary neoplasm have not been well characterized. Twenty-two intraductal tubulopapillary neoplasms were analyzed by either targeted next-generation sequencing, which enabled the identification of sequence mutations, copy number alterations, and selected structural rearrangements involving all targeted (≥300) genes, or whole-exome sequencing...
August 4, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28768910/sexual-dimorphism-in-glioma-glycolysis-underlies-sex-differences-in-survival
#15
Joseph E Ippolito, Aldrin Kay-Yuen Yim, Jingqin Luo, Prakash Chinnaiyan, Joshua B Rubin
The molecular bases for sex differences in cancer remain undefined and how to incorporate them into risk stratification remains undetermined. Given sex differences in metabolism and the inverse correlation between fluorodeoxyglucose (FDG) uptake and survival, we hypothesized that glycolytic phenotyping would improve glioma subtyping. Using retrospectively acquired lower-grade glioma (LGG) transcriptome data from The Cancer Genome Atlas (TCGA), we discovered male-specific decreased survival resulting from glycolytic gene overexpression...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28755323/detection-of-the-alternative-lengthening-of-telomeres-pathway-in-malignant-gliomas-for-improved-molecular-diagnosis
#16
Anne Fogli, Marie-Véronique Demattei, Laetitia Corset, Catherine Vaurs-Barrière, Emmanuel Chautard, Julian Biau, Jean-Louis Kémény, Catherine Godfraind, Bruno Pereira, Toufik Khalil, Nathalie Grandin, Philippe Arnaud, Michel Charbonneau, Pierre Verrelle
Human malignant gliomas exhibit acquisition of either one of two telomere maintenance mechanisms, resulting from either reactivation of telomerase expression or activation of an alternative lengthening of telomeres (ALT) mechanism. In the present study, we analyzed 63 human malignant gliomas for the presence of ALT-specific extrachromosomal circles of telomeric DNA (C-circles) and measured telomerase expression, telomeric DNA content (Telo/Alu method), and telomeric repeat-containing RNAs (TERRA) levels. We also assessed histomolecular markers routinely used in clinical practice...
July 28, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28755029/metastatic-malignant-pecoma-of-the-leg-with-identification-of-atrx-mutation-by-next-generation-sequencing
#17
Hussein Alnajar, Arlen Brickman, Lela Buckingham, Leonidas D Arvanitis
No abstract text is available yet for this article.
July 28, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28731042/molecular-alterations-of-coexisting-thyroid-papillary-carcinoma-and-anaplastic-carcinoma-identification-of-tert-mutation-as-an-independent-risk-factor-for-transformation
#18
Naoki Oishi, Tetsuo Kondo, Aya Ebina, Yukiko Sato, Junko Akaishi, Rumi Hino, Noriko Yamamoto, Kunio Mochizuki, Tadao Nakazawa, Hiroshi Yokomichi, Koichi Ito, Yuichi Ishikawa, Ryohei Katoh
Thyroid papillary carcinoma is the most common endocrine neoplasm and generally carries a favorable prognosis. However, a small subset of papillary carcinomas transforms into anaplastic carcinoma, an undifferentiated cancer with a dismal prognosis. Recent studies using next-generation sequencing revealed the genomic landscape of papillary carcinoma and anaplastic carcinoma. However, risk factors for anaplastic transformation in papillary carcinoma remain obscure. In the present study, we investigated molecular alterations of papillary carcinoma and anaplastic carcinoma components in 27 tumors in which anaplastic carcinoma coexisted with antecedent papillary carcinoma...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28719461/serotonin-atrx-and-daxx-expression-in-pituitary-adenomas-markers-in-the-differential-diagnosis-of-neuroendocrine-tumors-of-the-sellar-region
#19
Olivera Casar-Borota, Johan Botling, Dan Granberg, Jerker Stigare, Johan Wikström, Henning Bünsow Boldt, Bjarne Winther Kristensen, Fredrik Pontén, Jacqueline Trouillas
Differential diagnosis based on morphology and immunohistochemistry between a clinically nonfunctioning pituitary neuroendocrine tumor (NET)/pituitary adenoma and a primary or secondary NET of nonpituitary origin in the sellar region may be difficult. Serotonin, a frequently expressed marker in the NETs, has not been systematically evaluated in pituitary NETs. Although mutations in ATRX or DAXX have been reported in a significant proportion of pancreatic NETs, the mutational status of ATRX and DAXX and their possible pathogenetic role in pituitary NETs are unknown...
September 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28718400/histone-h3g34r-mutation-causes-replication-stress-homologous-recombination-defects-and-genomic-instability-in-s-pombe
#20
Rajesh K Yadav, Carolyn M Jablonowski, Alfonso G Fernandez, Brandon R Lowe, Ryan A Henry, David Finkelstein, Kevin J Barnum, Alison L Pidoux, Yin-Ming Kuo, Jie Huang, Matthew J O'Connell, Andrew J Andrews, Arzu Onar-Thomas, Robin C Allshire, Janet F Partridge
Recurrent somatic mutations of H3F3A in aggressive pediatric high-grade gliomas generate K27M or G34R/V mutant histone H3.3. H3.3-G34R/V mutants are common in tumors with mutations in p53 and ATRX, an H3.3-specific chromatin remodeler. To gain insight into the role of H3-G34R, we generated fission yeast that express only the mutant histone H3. H3-G34R specifically reduces H3K36 tri-methylation and H3K36 acetylation, and mutants show partial transcriptional overlap with set2 deletions. H3-G34R mutants exhibit genomic instability and increased replication stress, including slowed replication fork restart, although DNA replication checkpoints are functional...
July 18, 2017: ELife
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