keyword
MENU ▼
Read by QxMD icon Read
search

antonescu

keyword
https://www.readbyqxmd.com/read/28923937/direct-engagement-of-the-pi3k-pathway-by-mutant-kit-dominates-oncogenic-signaling-in-gastrointestinal-stromal-tumor
#1
Benedikt Bosbach, Ferdinand Rossi, Yasemin Yozgat, Jennifer Loo, Jennifer Q Zhang, Georgina Berrozpe, Katherine Warpinski, Imke Ehlers, Darren Veach, Andrew Kwok, Katia Manova, Cristina R Antonescu, Ronald P DeMatteo, Peter Besmer
Gastrointestinal stromal tumors (GISTs) predominantly harbor activating mutations in the receptor tyrosine kinase KIT. To genetically dissect in vivo the requirement of different signal transduction pathways emanating from KIT for tumorigenesis, the oncogenic Kit(V558Δ) mutation was combined with point mutations abrogating specific phosphorylation sites on KIT. Compared with single-mutant Kit(V558Δ/+) mice, double-mutant Kit(V558Δ;Y567F/Y567F) knock-in mice lacking the SRC family kinase-binding site on KIT (pY567) exhibited attenuated MAPK signaling and tumor growth...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28877062/recurrent-braf-gene-fusions-in-a-subset-of-pediatric-spindle-cell-sarcomas-expanding-the-genetic-spectrum-of-tumors-with-overlapping-features-with-infantile-fibrosarcoma
#2
Yu-Chien Kao, Christopher D M Fletcher, Rita Alaggio, Leonard Wexler, Lei Zhang, Yun-Shao Sung, Dicle Orhan, Wei-Chin Chang, David Swanson, Brendan C Dickson, Cristina R Antonescu
Infantile fibrosarcomas (IFS) represent a distinct group of soft tissue tumors occurring in patients under 2 years of age and most commonly involving the extremities. Most IFS show recurrent ETV6-NTRK3 gene fusions, sensitivity to chemotherapy, and an overall favorable clinical outcome. However, outside these well-defined pathologic features, no studies have investigated IFS lacking ETV6-NTRK3 fusions, or tumors with the morphology resembling IFS in older children. This study was triggered by the identification of a novel SEPT7-BRAF fusion in an unclassified retroperitoneal spindle cell sarcoma in a 16-year-old female by targeted RNA sequencing...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28843361/germline-mutations-in-dna-repair-genes-in-lung-adenocarcinoma
#3
Erin M Parry, Dustin L Gable, Susan E Stanley, Sara E Khalil, Valentin Antonescu, Liliana Florea, Mary Armanios
INTRODUCTION: While lung cancer is generally thought to be environmentally provoked, anecdotal familial clustering has been reported suggesting there may be genetic susceptibility factors. We systematically tested whether germline mutations in eight candidate genes may be risk factors for lung adenocarcinoma. METHODS: We studied lung adenocarcinoma cases for whom germline sequence data had been generated as part of The Cancer Genome Atlas (TCGA) project, but that had not been previously analyzed...
August 23, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28817404/primary-renal-sarcomas-with-bcor-ccnb3-gene-fusion-a-report-of-2-cases-showing-histologic-overlap-with-clear-cell-sarcoma-of-kidney-suggesting-further-link-between-bcor-related-sarcomas-of-the-kidney-and-soft-tissues
#4
Pedram Argani, Yu-Chien Kao, Lei Zhang, Carlos Bacchi, Andres Matoso, Rita Alaggio, Jonathan I Epstein, Cristina R Antonescu
We report 2 primary renal sarcomas demonstrating BCOR-CCNB3 gene fusions that have recently been identified in undifferentiated round cell sarcomas of bone and soft tissue. These neoplasms occurred in male children aged 11 and 12 years, and both were cystic as a result of entrapment and dilatation of native renal tubules. Both cases were composed of variably cellular bland spindle cells with fine chromatin set in myxoid stroma and separated by a branching capillary vasculature. Both neoplasms demonstrated immunoreactivity for BCOR, cyclin D1, TLE1, and SATB2 in the spindle neoplastic cells and negativity in the prominent capillary vasculature...
August 16, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28814502/selective-regulation-of-clathrin-mediated-egfr-signaling-and-endocytosis-by-phospholipase-c-and-calcium
#5
Ralph Christian Delos Santos, Stephen Bautista, Stefanie Lucarelli, Leslie N Bone, Roya M Dayam, John Abousawan, Roberto J Botelho, Costin N Antonescu
Clathrin-mediated endocytosis is a major regulator of cell surface protein internalization. Clathrin and other proteins assemble into small invaginating structures at the plasma membrane termed clathrin-coated pits (CCPs) that mediate vesicle formation. In addition, epidermal growth factor (EGF) receptor (EGFR) signaling is regulated by its accumulation within CCPs. Given the diversity of proteins regulated by clathrin-mediated endocytosis, how this process may distinctly regulate specific receptors is a key question...
August 16, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28796899/plag1-immunohistochemistry-is-a-sensitive-marker-for-pleomorphic-adenoma-a-comparative-study-with-plag1-genetic-abnormalities
#6
Nora Katabi, Bin Xu, Achim A Jungbluth, Lei Zhang, Sung Yun Shao, Jason Lane, Ronald Ghossein, Cristina R Antonescu
AIMS: PLAG1 gene rearrangement is the most common genetic abnormality in pleomorphic adenoma (PA), resulting in overexpression of PLAG1 protein. PA and carcinoma ex pleomorphic adenoma (CA ex-PA) can mimic various benign and malignant salivary gland tumors. The aims of this study are to evaluate the sensitivity and specificity of PLAG1 immunohistochemistry (IHC) in the differential diagnosis of PA and CA ex-PA and to compare the PLAG1 immunohistochemical results to PLAG1 gene abnormalities as detected by fluorescence in situ hybridization (FISH)...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28794017/differential-recruitment-of-e3-ubiquitin-ligase-complexes-regulates-ret-isoform-internalization
#7
Brandy D Hyndman, Mathieu J F Crupi, Susan Peng, Leslie N Bone, Aisha N Rekab, Eric Y Lian, Simona M Wagner, Costin N Antonescu, Lois M Mulligan
The RET receptor tyrosine kinase is implicated in normal development and cancer. RET is expressed as two isoforms, RET9 and RET51, with unique C-terminal tail sequences that recruit distinct protein complexes to mediate signals. Upon activation, RET isoforms are internalized with distinct kinetics, suggesting differences in regulation. Here, we demonstrate that RET9 and RET51 differ in their abilities to recruit E3-ubiquitin ligases to their unique C-termini. RET51, but not RET9, interacts with, and is ubiquitinated by CBL, which is recruited through interactions with the GRB2 adaptor protein...
August 9, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28791645/measurement-of-epidermal-growth-factor-receptor-derived-signals-within-plasma-membrane-clathrin-structures
#8
Stefanie Lucarelli, Ralph Christian Delos Santos, Costin N Antonescu
The epidermal growth factor (EGF) receptor (EGFR) is an important regulator of cell growth, proliferation, survival, migration, and metabolism. EGF binding to EGFR triggers the activation of the receptor's intrinsic kinase activity, in turn eliciting the recruitment of many secondary signaling proteins and activation of downstream signals, such as the activation of phosphatidylinositol-3-kinase (PI3K) and Akt, a process requiring the phosphorylation of Gab1. While the identity of many signals that can be activated by EGFR has been revealed, how the spatiotemporal organization of EGFR signaling within cells controls receptor outcome remains poorly understood...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28762137/a-clinicopathologic-study-of-head-and-neck-malignant-peripheral-nerve-sheath-tumors
#9
Adepitan A Owosho, Cherry L Estilo, Joseph M Huryn, Ping Chi, Cristina R Antonescu
Head and neck high grade malignant peripheral nerve sheath tumors (HN-MPNSTs) are rare highly aggressive soft tissue sarcomas that show overlapping morphologic and immunophenotypic features with melanoma and other high grade sarcomas, resulting in diagnostic challenges, particularly in sporadic settings. Recent discoveries have implicated loss of function mutations in the polycomb repressive complex 2 (PRC2) components, including EED or SUZ12 genes, as one of the leading pathogenetic mechanisms in high grade MPNST...
July 31, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28694018/the-enu-3-protein-family-members-function-in-the-wnt-pathway-parallel-to-unc-6-netrin-to-promote-motor-neuron-axon-outgrowth-in-c-elegans
#10
Roxana Oriana Florica, Victoria Hipolito, Stephen Bautista, Homa Anvari, Chloe Rapp, Suzan El-Rass, Alimohammad Asgharian, Costin N Antonescu, Marie T Killeen
The axons of the DA and DB classes of motor neurons fail to reach the dorsal cord in the absence of the guidance cue UNC-6/Netrin or its receptor UNC-5 in C. elegans. However, the axonal processes usually exit their cell bodies in the ventral cord in the absence of both molecules. Strains lacking functional versions of UNC-6 or UNC-5 have a low level of DA and DB motor neuron axon outgrowth defects. We found that mutations in the genes for all six of the ENU-3 proteins function to enhance the outgrowth defects of the DA and DB axons in strains lacking either UNC-6 or UNC-5...
July 8, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28692601/recurrent-braf-gene-rearrangements-in-myxoinflammatory-fibroblastic-sarcomas-but-not-hemosiderotic-fibrolipomatous-tumors
#11
Yu-Chien Kao, Valentina Ranucci, Lei Zhang, Yun-Shao Sung, Edward A Athanasian, David Swanson, Brendan C Dickson, Cristina R Antonescu
Myxoinflammatory fibroblastic sarcoma (MIFS) is a low grade soft tissue sarcoma with a predilection for acral sites, being associated with a high rate of local recurrence but very infrequent distant metastases. Although a t(1;10) translocation resulting in TGFBR3-MGEA5 fusion has been reported as a recurrent genetic event in MIFS, this abnormality is seen only in a subset of cases. As no studies to date have investigated the spectrum of alternative genetic alterations in TGFBR3-MGEA5 fusion negative MIFS, we undertook a genetic analysis of this particular cohort for further molecular classification...
July 7, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28644513/benign-vascular-lesions-of-the-breast-diagnosed-by-core-needle-biopsy-do-not-require-excision
#12
Christopher Sebastiano, Lucas Gennaro, Edi Brogi, Elizabeth Morris, Zenica L Bowser, Cristina R Antonescu, Fresia Pareja, Sandra Brennan, Melissa P Murray
AIMS: Surgical excision of all benign vascular lesions of the breast identified by core needle biopsy has been recommended in the past to rule out a more serious lesion. In this study we investigated the clinical, radiologic, and pathologic findings in patients diagnosed with a benign vascular lesion at our institution to assess whether excision may be spared for lesions without atypia. METHODS AND RESULTS: We searched the electronic medical record for patients with a vascular lesion of the breast diagnosed between 2000 and 2015...
June 23, 2017: Histopathology
https://www.readbyqxmd.com/read/28621321/bcor-is-a-robust-diagnostic-immunohistochemical-marker-of-genetically-diverse-high-grade-endometrial-stromal-sarcoma-including-tumors-exhibiting-variant-morphology
#13
Sarah Chiang, Cheng-Han Lee, Colin J R Stewart, Esther Oliva, Lien N Hoang, Rola H Ali, Martee L Hensley, Javier A Arias-Stella, Denise Frosina, Achim A Jungbluth, Ryma Benayed, Marc Ladanyi, Meera Hameed, Lu Wang, Yu-Chien Kao, Cristina R Antonescu, Robert A Soslow
Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2, 5 ZC3H7B-BCOR, 3 BCOR-ZC3H7B), 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28611108/wnt-%C3%AE-catenin-signaling-contributes-to-tumor-malignancy-and-is-targetable-in-gastrointestinal-stromal-tumor
#14
Shan Zeng, Adrian M Seifert, Jennifer Q Zhang, Michael J Cavnar, Teresa S Kim, Vinod P Balachandran, Juan A Santamaria-Barria, Noah A Cohen, Michael J Beckman, Benjamin D Medina, Ferdinand Rossi, Megan H Crawley, Jennifer K Loo, Joanna H Maltbaek, Peter Besmer, Cristina R Antonescu, Ronald P DeMatteo
Gastrointestinal stromal tumor (GIST) is the most common type of sarcoma and usually harbors either a KIT or PDGFRA mutation. However, the molecular basis for tumor malignancy is not well defined. Although the Wnt/β-catenin signaling pathway is important in a variety of cancers, its role in GIST is uncertain. Through analysis of nearly 150 human GIST specimens, we found that some human GISTs expressed β-catenin and contained active, dephosphorylated nuclear β-catenin. Furthermore, advanced human GISTs expressed reduced levels of the Wnt antagonist DKK4...
September 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28574194/the-big-and-intricate-dreams-of-little-organelles-embracing-complexity-in-the-study-of-membrane-traffic
#15
REVIEW
Allen P Liu, Roberto J Botelho, Costin N Antonescu
Compartmentalization of eukaryotic cells into dynamic organelles that exchange material through regulated membrane traffic governs virtually every aspect of cellular physiology including signal transduction, metabolism and transcription. Much has been revealed about the molecular mechanisms that control organelle dynamics and membrane traffic and how these processes are regulated by metabolic, physical and chemical cues. From this emerges the understanding of the integration of specific organellar phenomena within complex, multiscale and nonlinear regulatory networks...
June 2, 2017: Traffic
https://www.readbyqxmd.com/read/28551330/histopathologic-evaluation-of-atypical-neurofibromatous-tumors-and-their-transformation-into-malignant-peripheral-nerve-sheath-tumor-in-neurofibromatosis-1-patients-a-consensus-overview
#16
Markku M Miettinen, Cristina R Antonescu, Christopher D M Fletcher, Aerang Kim, Alexander J Lazar, Martha M Quezado, Karlyne M Reilly, Anat Stemmer-Rachamimov, Douglas R Stewart, David Viskochil, Brigitte Widemann, Arie Perry
Neurofibromatosis 1 (NF1) patients develop multiple neurofibromas, with 8-15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, following a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant trans-formation of neurofibromas. Nuclear atypia alone is generally insignificant...
May 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/28539323/etv1-positive-cells-give-rise-to-braf-v600e-mutant-gastrointestinal-stromal-tumors
#17
Leili Ran, Devan Murphy, Jessica Sher, Zhen Cao, Shangqian Wang, Edward Walczak, Youxin Guan, Yuanyuan Xie, Shipra Shukla, Yu Zhan, Cristina R Antonescu, Yu Chen, Ping Chi
Gastrointestinal stromal tumor (GIST) is the most common subtype of sarcoma. Despite clinical advances in the treatment of KIT/PDGFRA-mutant GIST, similar progress against KIT/PDGFRA wild-type GIST, including mutant BRAF-driven tumors, has been limited by a lack of model systems. ETV1 is a master regulator in the intestinal cells of Cajal (ICC), thought to be the cells of origin of GIST. Here, we present a model in which the ETV1 promoter is used to specifically and inducibly drive Cre recombinase in ICC as a strategy to study GIST pathogenesis...
July 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28521780/ultrasound-and-microbubble-induced-release-from-intracellular-compartments
#18
Farah Hussein, Costin Antonescu, Raffi Karshafian
BACKGROUND: Ultrasound and microbubbles (USMB) have been shown to enhance the intracellular uptake of molecules, generally thought to occur as a result of sonoporation. The underlying mechanism associated with USMB-enhanced intracellular uptake such as membrane disruption and endocytosis may also be associated with USMB-induced release of cellular materials to the extracellular milieu. This study investigates USMB effects on the molecular release from cells through membrane-disruption and exocytosis...
May 18, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#19
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28505004/a-subset-of-malignant-mesotheliomas-in-young-adults-are-associated-with-recurrent-ewsr1-fus-atf1-fusions
#20
Patrice Desmeules, Philippe Joubert, Lei Zhang, Hikmat A Al-Ahmadie, Christopher D Fletcher, Efsevia Vakiani, Deborah F Delair, Natasha Rekhtman, Marc Ladanyi, William D Travis, Cristina R Antonescu
Malignant mesothelioma (MM) is a rare, aggressive tumor often associated with asbestos exposure and characterized by complex genetic abnormalities, including deletions of chromosome 22. A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM. However, the incidence of EWSR1 rearrangements in MM and the spectrum of its fusion partners remain unknown. We recently encountered 2 MM cases with EWSR1-ATF1 fusions and sought to investigate the prevalence and clinicopathologic features associated with this abnormality...
July 2017: American Journal of Surgical Pathology
keyword
keyword
48925
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"