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https://www.readbyqxmd.com/read/28295484/who-2016-classification-changes-and-advancements-in-the-diagnosis-of-miscellaneous-primary-cns-tumours
#1
Felix Sahm, David E Reuss, Caterina Giannini
This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal non-meningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding "hybrid nerve sheath tumours" to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term solitary SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells...
March 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28248732/the-role-of-mutation-rates-of-gnaq-or-gna11-in-cases-of-uveal-melanoma-in-japan
#2
Jun Ominato, Takeo Fukuchi, Ayako Sato, Naoyuki Yamaguchi, Kazue Kobayashi, Hiroyuki Cho, Tokuhide Oyama, Yoichi Ajioka
GNAQ and GNA11 mutations are thought to be important for the tumorigenesis of uveal melanoma. Although previous studies have reported on mutation rates in cases of uveal melanoma, presently, no such report for the Japanese population exists. In this study, we examined the frequency of GNAQ and GNA11 somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods. The study involved 19 cases of uveal melanoma...
February 28, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28229253/the-biology-of-uveal-melanoma
#3
Adriana Amaro, Rosaria Gangemi, Francesca Piaggio, Giovanna Angelini, Gaia Barisione, Silvano Ferrini, Ulrich Pfeffer
Uveal melanoma (UM), a rare cancer of the eye, is distinct from cutaneous melanoma by its etiology, the mutation frequency and profile, and its clinical behavior including resistance to targeted therapy and immune checkpoint blockers. Primary disease is efficiently controlled by surgery or radiation therapy, but about half of UMs develop distant metastasis mostly to the liver. Survival of patients with metastasis is below 1 year and has not improved in decades. Recent years have brought a deep understanding of UM biology characterized by initiating mutations in the G proteins GNAQ and GNA11...
February 22, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28228113/validation-of-an-ngs-mutation-detection-panel-for-melanoma
#4
Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
BACKGROUND: Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy. METHODS: While polymerase chain reaction (PCR) methods are often used to detect BRAF mutations, next generation sequencing (NGS) is able to determine all of the necessary information on several genes at once, with potential advantages in turnaround time...
February 22, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28223438/dysregulated-gpcr-signaling-and-therapeutic-options-in-uveal-melanoma
#5
Vivian Chua, Dominic Lapadula, Clinita Randolph, Jeffrey L Benovic, Philip Wedegaertner, Andrew E Aplin
Uveal melanoma (UM) is the most common primary intraocular malignant tumor in adults and arises from the transformation of melanocytes in the uveal tract. Even after treatment of the primary tumor, up to 50% of patients succumb to metastatic disease. The liver is the predominant organ of metastasis. There is an important need to provide effective treatment options for advanced stage UM. In order to provide the preclinical basis for new treatments, it is important to understand the molecular underpinnings of the disease...
February 21, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28203054/uveal-melanoma-epidemiology-etiology-and-treatment-of-primary-disease
#6
REVIEW
Benjamin A Krantz, Nikita Dave, Kimberly M Komatsubara, Brian P Marr, Richard D Carvajal
Uveal melanoma (UM) is the most common intraocular malignancy and arises from melanocytes in the iris, ciliary body, or choroid. Early diagnosis and local treatment is crucial, as survival correlates with primary tumor size. However, approximately 50% of patients will develop metastatic disease with 6-12 months' survival from metastatic diagnosis. Genomic analyses have led to the development of gene-expression profiles that effectively predict metastatic progression; unfortunately, no adjuvant therapy has been shown to prolong survival to date...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28194446/knockin-mouse-with-mutant-g%C3%AE-11-mimics-human-inherited-hypocalcemia-and-is-rescued-by-pharmacologic-inhibitors
#7
Kelly L Roszko, Ruiye Bi, Caroline M Gorvin, Hans Bräuner-Osborne, Xiao-Feng Xiong, Asuka Inoue, Rajesh V Thakker, Kristian Strømgaard, Thomas Gardella, Michael Mannstadt
Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we identified gain-of-function mutations in Gα11 in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the point mutation GNA11 c...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28188128/interaction-landscape-of-inherited-polymorphisms-with-somatic-events-in-cancer
#8
Hannah Carter, Rachel Marty, Matan Hofree, Andrew M Gross, James Jensen, Kathleen M Fisch, Xingyu Wu, Christopher DeBoever, Eric L Van Nostrand, Yan Song, Emily Wheeler, Jason F Kreisberg, Scott M Lippman, Gene W Yeo, J Silvio Gutkind, Trey Ideker
Recent studies have characterized the extensive somatic alterations that arise during cancer. However, the somatic evolution of a tumor may be significantly affected by inherited polymorphisms carried in the germline. Here, we analyze genomic data for 5,954 tumors to reveal and systematically validate 412 genetic interactions between germline polymorphisms and major somatic events, including tumor formation in specific tissues and alteration of specific cancer genes. Among germline-somatic interactions, we found germline variants in RBFOX1 that increased incidence of SF3B1 somatic mutation by 8-fold via functional alterations in RNA splicing...
February 10, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28176280/stepwise-casr-ap2s1-and-gna11-sequencing-in-patients-with-suspected-familial-hypocalciuric-hypercalcemia
#9
Auryan Szalat, Shoshana Shpitzen, Anat Tsur, Ilana Zalmon Koren, Shmuel Shilo, Liana Tripto-Shkolnik, Ronen Durst, Eran Leitersdorf, Vardiella Meiner
PURPOSE: Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2. We aimed to evaluate the presence of mutations in these genes and to identify phenotypic specificities and differences in these patients...
February 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28174748/requirement-of-g%C3%AE-q-g%C3%AE-11-signaling-in-the-preservation-of-mouse-intestinal-epithelial-homeostasis
#10
Noboru Watanabe, Hirosato Mashima, Kouichi Miura, Takashi Goto, Makoto Yoshida, Akiteru Goto, Hirohide Ohnishi
BACKGROUND & AIMS: Proliferation, differentiation, and morphogenesis of the intestinal epithelium are tightly regulated by a number of molecular pathways. Coordinated action of intestine is achieved by gastrointestinal hormones, most of which exert these actions through G-protein-coupled receptors. We herein investigated the role of Gαq/11-mediated signaling in intestinal homeostasis. METHODS: Intestinal tissues from control (Gnaq(flox/flox)Gna11(+/+) ), Int-Gq knock-out (KO) (VilCre(+/-)Gnaq(flox/flox)Gna11(+/+) ), G11 KO (Gnaq(flox/flox)Gna11(-/-) ), and Int-Gq/G11 double knock-out (DKO) (VilCre(+/-)Gnaq(flox/flox)Gna11(-/-) ) mice were examined by microscopy, transmission electron microscopy, and immunohistochemistry...
November 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28141766/choroidal-nevus-a-review-of-prevalence-features-genetics-risks-and-outcomes
#11
Jason L Chien, Kareem Sioufi, Thamolwan Surakiatchanukul, Jerry A Shields, Carol L Shields
PURPOSE OF REVIEW: To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. RECENT FINDINGS: Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI...
January 30, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#12
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28120216/a-somatic-gna11-mutation-is-associated-with-extremity-capillary-malformation-and-overgrowth
#13
Javier A Couto, Ugur M Ayturk, Dennis J Konczyk, Jeremy A Goss, August Y Huang, Steve Hann, Jennifer L Reeve, Marilyn G Liang, Joyce Bischoff, Matthew L Warman, Arin K Greene
BACKGROUND: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. We hypothesized that mutations in GNA11 or GNA14, genes closely related to GNAQ, also may cause capillary malformations...
January 24, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28106494/letter-to-the-editor-role-of-mutational-status-of-gnaq-and-gna11-in-the-diagnosis-of-melanocytic-tumors
#14
Yislenz Narváez-Martínez, Marc Sagristà-Garcia, Maria Teresa Fernandez-Figueras
No abstract text is available yet for this article.
January 20, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28074614/mutation-analysis-and-gene-expression-profiling-of-ocular-melanomas-in-cats
#15
J G Rushton, R Ertl, D Klein, B Nell
Feline ocular melanomas show a high malignant behaviour, but adjunctive therapies are non-existent. The aim of this pilot study was to determine, whether feline ocular melanomas harbour mutations comparable to mutations in human melanomas and to evaluate the gene expression status of genes known to be involved in initiation and progression of human melanomas. Mutation hotspot regions of several genes of feline ocular melanomas were analysed by DNA sequencing and RNA expression levels of the respective genes and others were evaluated by quantitative real-time polymerase chain reaction (RT-qPCR)...
January 11, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28018010/uveal-melanoma-cell-lines-where-do-they-come-from-an-american-ophthalmological-society-thesis
#16
REVIEW
Martine J Jager, J Antonio Bermudez Magner, Bruce R Ksander, Sander R Dubovy
PURPOSE: To determine whether some of the most often used uveal melanoma cell lines resemble their original tumor. METHODS: Analysis of the literature, patient charts, histopathology, mutations, chromosome status, HLA type, and expression of melanocyte markers on cell lines and their primary tumors. We examined five cell lines and the primary tumors from which they were derived. RESULTS: Four of the five examined primary tumors were unusual: one occupied the orbit, two were recurrences after prior irradiation, and one developed in an eye with a nevus of Ota...
August 2016: Transactions of the American Ophthalmological Society
https://www.readbyqxmd.com/read/28012237/sporadic-melanotic-schwannoma-with-overlapping-features-of-melanocytoma-bearing-a-gna11-mutation-in-an-adolescent-girl
#17
Christina Tatsi, Flora Bacopoulou, Charalampos Lyssikatos, Elena Belyavskaya, Fabio R Faucz, Constantine A Stratakis
Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. We report an adolescent female with a large sporadic mesenteric MS with complex histologic findings reminiscent of both PMS and MC...
December 24, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27990554/gna11-mutated-and-bap1-negative-melanomas-ex-blue-naevi-a-particularly-aggressive-entity
#18
Arnaud Uguen, Briac Guibourg, Sebastian Costa, Pascale Marcorelles
is missing (Short Communication).
December 8, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27974237/copy-number-variation-analysis-and-methylome-profiling-of-a-gnaq-mutant-primary-meningeal-melanocytic-tumor-and-its-liver-metastasis
#19
Heidi V N Küsters-Vandevelde, Vibeke Kruse, Tom Van Maerken, Tom Boterberg, Rolph Pfundt, David Creytens, Caroline Van den Broecke, Trudi C Machielsen, Christian Koelsche, Andreas von Deimling, Benno Küsters, Patricia J T A Groenen, Pieter Wesseling, Willeke A M Blokx
Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor originating in the parietal brain region and liver metastases 4years after initial diagnosis. After repeated surgery and chemotherapy she was treated with the immunomodulatory agent ipilimumab...
December 11, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27941843/whole-genome-sequencing-of-eight-goat-populations-for-the-detection-of-selection-signatures-underlying-production-and-adaptive-traits
#20
Xiaolong Wang, Jing Liu, Guangxian Zhou, Jiazhong Guo, Hailong Yan, Yiyuan Niu, Yan Li, Chao Yuan, Rongqing Geng, Xianyong Lan, Xiaopeng An, Xingui Tian, Huangkai Zhou, Jiuzhou Song, Yu Jiang, Yulin Chen
The goat (Capra hircus) is one of the first farm animals that have undergone domestication and extensive natural and artificial selection by adapting to various environments, which in turn has resulted in its high level of phenotypic diversity. Here, we generated medium-coverage (9-13×) sequences from eight domesticated goat breeds, representing morphologically or geographically specific populations, to identify genomic regions representing selection signatures. We discovered ~10 million single nucleotide polymorphisms (SNPs) for each breed...
December 12, 2016: Scientific Reports
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