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https://www.readbyqxmd.com/read/27911099/nuclear-morphometric-findings-in-undetermined-cytology-a-possible-clue-for-prediction-of-braf-mutation-in-papillary-thyroid-carcinomas
#1
Sevdegul Mungan, Safak Ersoz, Ismail Saygin, Zeynep Sagnak, Umit Cobanoglu
PURPOSE: To investigate the possible relationship between the nuclear morphometric characteristics (nuclear perimeter, roundness, nuclear area, and nuclear shape) and BRAF mutation status in papillary thyroid carcinoma cases with a prior diagnosis of undetermined cytology. MATERIALS AND METHODS: Total thyroidectomy specimens obtained from 48 patients with papillary thyroid carcinoma with a prior diagnosis of undetermined cytology were included. Morphometric analysis under light microscopy included measurements of the perimeter, shape factor, nuclear area, and roundness of thyrocyte nuclei from the cytological smear preparations...
December 2, 2016: Endocrine Research
https://www.readbyqxmd.com/read/27910945/thyroid-transcription-factor-1-distinguishes-subependymal-giant-cell-astrocytoma-from-its-mimics-and-supports-its-cell-origin-from-the-progenitor-cells-in-the-medial-ganglionic-eminence
#2
Jen-Fan Hang, Chih-Yi Hsu, Shih-Chieh Lin, Chih-Chun Wu, Han-Jui Lee, Donald Ming-Tak Ho
Subependymal giant cell astrocytoma is a benign brain tumor mostly associated with tuberous sclerosis complex. However, it may be misinterpreted as other high-grade brain tumors due to the presence of large tumor cells with conspicuous pleomorphism and occasional atypical features, such as tumor necrosis and endothelial proliferation. In this study, we first investigated thyroid transcription factor-1 (TTF-1) expression in a large series of subependymal giant cell astrocytomas and other histologic and locational mimics to validate the diagnostic utility of this marker...
December 2, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27903126/potential-evolution-of-neurosurgical-treatment-paradigms-for-craniopharyngioma-based-on-genomic-and-transcriptomic-characteristics
#3
Leslie C Robinson, Sandro Santagata, Todd C Hankinson
The recent genomic and transcriptomic characterization of human craniopharyngiomas has provided important insights into the pathogenesis of these tumors and supports that these tumor types are distinct entities. Critically, the insights provided by these data offer the potential for the introduction of novel therapies and surgical treatment paradigms for these tumors, which are associated with high morbidity rates and morbid conditions. Mutations in the CTNNB1 gene are primary drivers of adamantinomatous craniopharyngioma (ACP) and lead to the accumulation of β-catenin protein in a subset of the nuclei within the neoplastic epithelium of these tumors...
December 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27903124/diagnosis-and-management-of-craniopharyngiomas-in-the-era-of-genomics-and-targeted-therapy
#4
Juan Carlos Martinez-Gutierrez, Megan R D'Andrea, Daniel P Cahill, Sandro Santagata, Fred G Barker, Priscilla K Brastianos
Craniopharyngiomas are rare intracranial neoplasms that pose clinical challenges due to their location adjacent to vital structures. The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. These activating driver mutations are potential therapeutic targets, and the authors have recently reported a significant response to BRAF/MEK inhibition in a patient with multiply recurrent PCP. As these targetable mutations warrant prospective research, the authors will be conducting a national National Cancer Institute-sponsored multicenter clinical trial to investigate BRAF/MEK inhibition in the treatment of craniopharyngioma...
December 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27896649/the-micropapillary-hobnail-variant-of-papillary-thyroid-carcinoma-a-review-of-series-described-in-the-literature-compared-to-a-series-from-one-southern-italy-pathology-institution
#5
REVIEW
Antonio Ieni, Valeria Barresi, Roberta Cardia, Luana Licata, Flavia Di Bari, Salvatore Benvenga, Giovanni Tuccari
Papillary thyroid carcinoma (PTC) has a good prognosis with a 10-yr survival greater than 90%. Recently, a micro-papillary pattern with hobnail appearance (MPHC) in PTC has been indicated as associated with poor prognosis, but this suggestion is based only on a few cases from geographical areas different from ours. Two-hundred ninety-nine consecutive PTC cases were collected between the years of 1992 and 2014 at our institution. The corresponding histologic sections (at least 6 for each case) were stained with hematoxylin and eosin and reviewed independently by two pathologists to reach a consensus on the identification and quantification of the MPHC...
November 28, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27893585/conjunctival-melanoma-responsive-to-combined-systemic-braf-mek-inhibitors
#6
Lora R Dagi Glass, Donald P Lawrence, Frederick A Jakobiec, Suzanne K Freitag
This report demonstrates a unique case of conjunctival melanoma harboring a BRAF V600E mutation responsive to systemic therapy with BRAF and MEK inhibitors. While systemic therapy would not be appropriate in patients with local disease alone, it may act therapeutically in cases of higher stage ocular surface and eyelid melanoma.
November 23, 2016: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27889325/-langerhans-cell-histiocytosis-and-erdheim-chester-disease-a-continuity
#7
S Parreau, J Haroche, I Pommepuy, J F Emile, J C Bourras, F Archambeaud
INTRODUCTION: Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described. OBSERVATION: A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation...
November 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27886677/differences-in-global-dna-methylation-of-testicular-seminoma-are-not-associated-with-changes-in-histone-modifications-clinical-prognosis-braf-mutations-or-gene-expression
#8
Louise Holm Pedersen, John E Nielsen, Gedske Daugaard, Thomas V O Hansen, Ewa Rajpert-De Meyts, Kristian Almstrup
Testicular germ cell tumours of young adults are comprised of a heterogeneous group of non-seminomas and a homogeneous group of seminomas. While the majority of seminomas retain a hypo-methylated genome, a small fraction displays a highly methylated genome, resembling hyper-methylated non-seminomas. It is well established from e.g. melanoma, colorectal and thyroid cancer that a methylated phenotype can be correlated to prognosis and can be related to BRAF mutations. In the present study we investigated the global methylation level in 67 seminomas and classified them as hypo-methylated, intermediate, patchy and hyper-methylated, respectively...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27880942/acquired-resistance-to-braf-inhibition-induces-epithelial-to-mesenchymal-transition-in-braf-v600e-mutant-thyroid-cancer-by-c-met-mediated-akt-activation
#9
Hyung Kwon Byeon, Hwi Jung Na, Yeon Ju Yang, Sooah Ko, Sun Och Yoon, Minhee Ku, Jaemoon Yang, Jae Wook Kim, Myung Jin Ban, Ji-Hoon Kim, Da Hee Kim, Jung Min Kim, Eun Chang Choi, Chang-Hoon Kim, Joo-Heon Yoon, Yoon Woo Koh
Previously, the authors have identified that c-Met mediates reactivation of the PI3K/AKT pathway following BRAF inhibitor treatment in BRAF (V600E) mutant anaplastic thyroid cancer, thereby contributing to the acquired drug resistance. Therefore dual inhibition of BRAF and c-Met led to sustained treatment response, thereby maximizing the specific anti-tumor effect of targeted therapy. The present study goes one step further and aims to investigate the effect of acquired resistance of BRAF inhibitor on epithelial-to-mesenchymal transition (EMT) in BRAF mutant thyroid cancer cells and the effect of dual inhibition from combinatorial therapy...
November 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27875244/a-six-genotype-genetic-prognostic-model-for-papillary-thyroid-cancer
#10
Xiaopei Shen, Rengyun Liu, Mingzhao Xing
A unique prognostic role of the genetic duet of BRAF V600E and TERT promoter mutations in papillary thyroid cancer (PTC) has been recently established, but the role of RAS mutation in this genetic interplay remains to be established. Using The Cancer Genome Atlas (TCGA) data of patients with PTC from 19 medical centers, we investigated the interactions among the three mutations in clinical outcomes of PTC. We found that BRAF and RAS mutations were mutually exclusive, but both were associated with TERT promoter mutations, with the genetic duet of BRAF/RAS and TERT mutations occurring in 34/388 (8...
January 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27867864/braf-v600e-mutation-in-prognostication-of-papillary-thyroid-cancer-ptc-recurrence
#11
REVIEW
Agnieszka Czarniecka, Małgorzata Oczko-Wojciechowska, Marcin Barczyński
Papillary thyroid cancer (PTC) offers excellent prognosis, however relapse risk or persistent disease is related to ~30%. Currently, attention is paid to the possibility of patient group selection of different risk of unfavorable outcome to match a particular therapeutic approach. Therefore, interest in new prognostic and predictive markers known preoperatively is observed. BRAF V600E mutation is such a marker. Many studies analyzing the prevalence of the mutation and its relationship with other clinico-pathological risk factors were reported but with controversial conclusions...
October 2016: Gland Surgery
https://www.readbyqxmd.com/read/27865374/clinical-implications-of-the-extent-of-braf-v600e-alleles-in-patients-with-papillary-thyroid-carcinoma
#12
Lihua Liu, Jae Won Chang, Seung-Nam Jung, Hee Sung Park, Taejeong Oh, Young Chang Lim, Bon Seok Koo
OBJECTIVE: There are many conflicting reports about the clinical implications of BRAF(V600E) in papillary thyroid cancer (PTC). We investigated the associations between the extent of BRAF(V600E) alleles and both clinico-pathological features and recurrence of PTC. MATERIALS AND METHODS: Carcinoma tissues from 60 patients with PTC were genotyped for BRAF(V600E) using pyrosequencing, and the clinico-pathological factors and disease outcomes of the patients were examined...
November 2016: Oral Oncology
https://www.readbyqxmd.com/read/27864688/detection-of-mutations-in-the-braf-gene-in-patients-with-kit-and-pdgfra-wild-type-gastrointestinal-stromal-tumors
#13
Karin Jasek, Veronika Buzalkova, Gabriel Minarik, Andrea Stanclova, Peter Szepe, Lukas Plank, Zora Lasabova
Gastrointestinal stromal tumors (GISTs) are characterized by mutations in exons 9, 11, 13, and 17 of KIT or exons 12, 14, and 18 of PDGFRA gene. However, approximately 10 to 15 % of GISTs lack the mutations in KIT and PDGFRA, and these are referred to as wild-type GISTs which are less sensitive to tyrosine-kinase inhibitors. The aim of this study was to detect BRAF mutations in patients with wild-type GISTs. We applied a sensitive allele-specific PCR, which was optimized using the V600E mutation-harboring cell line RKO, followed by verification of the results by dideoxy sequencing...
November 18, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27864013/factors-predictive-of-response-disease-progression-and-overall-survival-after-dabrafenib-and-trametinib-combination-treatment-a-pooled-analysis-of-individual-patient-data-from-randomised-trials
#14
Georgina V Long, Jean-Jacques Grob, Paul Nathan, Antoni Ribas, Caroline Robert, Dirk Schadendorf, Stephen R Lane, Carmen Mak, Philippe Legenne, Keith T Flaherty, Michael A Davies
BACKGROUND: Dabrafenib plus trametinib treatment provides significant benefits over BRAF-inhibitor monotherapy in patients with BRAF(V600E)-mutant or BRAF(V600K)-mutant advanced melanoma; however, in many patients the disease progresses, leading to death. With many treatment options available, understanding clinical factors that predict long-term response and survival for treatments is important for optimisation of patient management. We aimed to identify clinical factors associated with long-term response and survival using pooled data from randomised trials of dabrafenib plus trametinib in patients with metastatic BRAF-mutant melanoma...
November 15, 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27863476/is-immunohistochemistry-of-braf-v600e-useful-as-a-screening-tool-and-during-progression-disease-of-melanoma-patients
#15
Laura Schirosi, Sabino Strippoli, Francesca Gaudio, Giusi Graziano, Ondina Popescu, Michele Guida, Giovanni Simone, Anita Mangia
BACKGROUND: In clinical practice the gold standard method to assess BRAF status in patients with metastatic melanoma is based on molecular assays. Recently, a mutation-specific monoclonal antibody (VE1), which detects the BRAF V600E mutated protein, has been developed. With this study we aimed to confirm the clinical value of the VE1 Ventana® antibody, as today a univocal validated and accredited immunohistochemical procedure does not exist, to preliminary detect BRAF status in our routine diagnostic procedures...
November 18, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27863429/epigenetically-upregulated-wipf1-plays-a-major-role-in-braf-v600e-promoted-papillary-thyroid-cancer-aggressiveness
#16
Tao Zhang, Xiaopei Shen, Rengyun Liu, Guangwu Zhu, Justin Bishop, Mingzhao Xing
How the BRAF V600E mutation promotes the pathogenesis and aggressiveness of papillary thyroid cancer (PTC) is not completely understood. Here we explored a novel mechanism involving WASP interacting protein family member 1 (WIPF1). In PTC tumors, compared with the wild-type BRAF, BRAF V600E was associated with over-expression and hypomethylation of the WIPF1 gene. In thyroid cancer cell lines with wild-type BRAF, WIPF1 expression was robustly upregulated upon introduced expression of BRAF V600E (P=0.03) whereas the opposite was seen upon BRAF knockdown or treatment with BRAF V600E or MEK inhibitors in cells harboring BRAF V600E...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27863426/quantification-of-tumor-derived-cell-free-dna-cfdna-by-digital-pcr-digpcr-in-cerebrospinal-fluid-of-patients-with-brafv600-mutated-malignancies
#17
Parisa Momtaz, Elena Pentsova, Omar Abdel-Wahab, Eli Diamond, David Hyman, Taha Merghoub, Daoqi You, Billel Gasmi, Agnes Viale, Paul B Chapman
Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27860162/desmoplastic-infantile-astrocytoma-ganglioglioma-with-rare-braf-v600d-mutation
#18
Ashley Greer, Nicholas K Foreman, Andrew Donson, Kurtis D Davies, B K Kleinschmidt-DeMasters
BACKGROUND: Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile gangliogliomas (DIGs) are rare, massive, cystic and solid tumors of infants usually found in superficial cerebral hemispheres. They manifest prominent desmoplastic stroma, admixed neoplastic astrocytes, primitive-appearing small cells, and additional neoplastic ganglion cells in the case of DIGs. While v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutation is found in up to 50% of pediatric gangliogliomas, two recent studies found that it was rare in DIA/DIGs; we sought to assess BRAF status in DIA/DIGs from our institution...
November 10, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27855847/p15-expression-differentiates-nevus-from-melanoma
#19
Laura A Taylor, Conor O'Day, Tzvete Dentchev, Kyle Hood, Emily Y Chu, Todd W Ridky, John T Seykora
Most melanomas are driven by BRAF(V600E)-activating mutations, while nevi harboring the same mutations have growth arrest. Although decreased p16 expression has been associated with melanoma formation, in recent work, p15 represented a primary effector of oncogene-induced senescence in nevomelanocytes that was diminished in melanomas. This study determined whether decreased p15 levels represent a general biomarker for the transition from nevus to melanoma. We performed p15 and p16 IHC analyses on a random series of nevi and melanomas...
December 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27849443/fusion-oncogenes-are-the-main-genetic-events-found-in-sporadic-papillary-thyroid-carcinomas-from-children
#20
Maria Isabel Cunha Vieira Cordioli, Lais Moraes, André Uchimura Bastos, Paloma Besson, Maria Teresa de Seixas Alves, Rosana Delcelo, Osmar Monte, Carlos A Longui, Adriano Namo Cury, Janete Cerutti
BACKGROUND: Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) in pediatric patients compared to adults. Previous studies have suggested that the clinicopathological differences observed between pediatric and adult PTC may be due the existence of distinct genetic alterations. However, the knowledge of genetic events in pediatric PTC is based primarily on studies in radiation-exposed PTC or in few studies that enrolled predominantly adolescent patients...
November 16, 2016: Thyroid: Official Journal of the American Thyroid Association
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