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https://www.readbyqxmd.com/read/29119645/high-sensitivity-of-fish-analysis-in-detecting-homozygous-smarcb1-deletions-in-poorly-differentiated-chordoma-a-clinicopathologic-and-molecular-study-of-9-cases
#1
Adepitan A Owosho, Lei Zhang, Marc K Rosenblum, Cristina R Antonescu
Poorly differentiated chordomas (PDCs) represent a rare subset of notochordal neoplasms, affecting primarily children and associated with an aggressive outcome. In contrast to conventional chordomas, PDC show solid growth and increased cellularity, cytologic atypia, and mitotic activity. Recent studies have shown that PDCs are characterized by recurrent deletions encompassing the SMARCB1 locus, resulting in consistent loss of nuclear SMARCB1 expression. Thus PDC joined the expanding family of SMARCB1-deficient tumors characterized by various SMARCB1 structural abnormalities, ranging from large homozygous deletions to small intragenic mutations...
November 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29058144/rectal-gastrointestinal-stromal-tumor-gist-in-the-era-of-imatinib-organ-preservation-and-improved-oncologic-outcome
#2
Michael J Cavnar, Lin Wang, Vinod P Balachandran, Cristina R Antonescu, William D Tap, Mary Keohan, Sam Singer, Larissa Temple, Garrett M Nash, Martin R Weiser, Jose G Guillem, Julio Garcia Aguilar, Ronald P DeMatteo, Philip B Paty
BACKGROUND: Approximately 5% of gastrointestinal stromal tumors (GISTs) originate in the rectum, and historically, radical resection was commonly performed. Little is known about the outcome for rectal GIST in the era of imatinib. METHODS: Using a prospectively maintained database, this study retrospectively analyzed 47 localized primary rectal GISTs treated at our center from 1982 to 2016, stratified by when imatinib became available in 2000. Overall survival (OS), disease-specific survival (DSS), and recurrence-free survival (RFS) were analyzed by the Kaplan-Meier method...
October 20, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29039030/size-and-location-are-the-most-important-risk-factors-for-malignant-behavior-in-resected-solitary-fibrous-tumors
#3
Sepideh Gholami, Michael R Cassidy, Amanda Kirane, Deborah Kuk, Bhumika Zanchelli, Christina R Antonescu, Samuel Singer, Murray Brennan
PURPOSE: While previously thought to be clinically indolent, recent data suggest significant late metastatic capacity of solitary fibrous tumors (SFTs). We define prognostic factors for recurrence and disease-specific death (DSD) in resected primary SFTs. METHODS: Resected primary SFTs from 1982 to 2015 were identified from a prospective, single institutional database. Risk factors for local (LR) and distant recurrence (DR), and DSD were assessed using competing risk analysis...
October 16, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28951624/erratum-pgbd5-promotes-site-specific-oncogenic-mutations-in-human-tumors
#4
Anton G Henssen, Richard Koche, Jiali Zhuang, Eileen Jiang, Casie Reed, Amy Eisenberg, Eric Still, Ian C MacArthur, Elias Rodríguez-Fos, Santiago Gonzalez, Montserrat Puiggròs, Andrew N Blackford, Christopher E Mason, Elisa de Stanchina, Mithat Gönen, Anne-Katrin Emde, Minita Shah, Kanika Arora, Catherine Reeves, Nicholas D Socci, Elizabeth Perlman, Cristina R Antonescu, Charles W M Roberts, Hanno Steen, Elizabeth Mullen, Stephen P Jackson, David Torrents, Zhiping Weng, Scott A Armstrong, Alex Kentsis
No abstract text is available yet for this article.
September 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28939748/in-depth-genetic-analysis-of-sclerosing-epithelioid-fibrosarcoma-reveals-recurrent-genomic-alterations-and-potential-treatment-targets
#5
Elsa Arbajian, Florian Puls, Cristina R Antonescu, M Fernanda Amary, Raf Sciot, Maria Debiec-Rychter, Vaiyapuri Sumathi, Marcus Järås, Linda Magnusson, Jenny Nilsson, Jakob Hofvander, Fredrik Mertens
PURPOSE: Sclerosing epithelioid fibrosarcoma (SEF) is a highly aggressive soft tissue sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). Some tumors display morphological characteristics of both SEF and LGFMS, so called hybrid SEF/LGFMS. Despite the overlap of gene fusion variants between these two tumor types, SEF is much more aggressive. The present study aimed to further characterize SEF and hybrid SEF/LGFMS genetically in order to better understand the role of the characteristic fusion genes and possible additional genetic alterations in tumorigenesis...
September 22, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28923937/direct-engagement-of-the-pi3k-pathway-by-mutant-kit-dominates-oncogenic-signaling-in-gastrointestinal-stromal-tumor
#6
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...
October 3, 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
#7
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
#8
Erin M Parry, Dustin L Gable, Susan E Stanley, Sara E Khalil, Valentin Antonescu, Liliana Florea, Mary Armanios
INTRODUCTION: Although lung cancer is generally thought to be environmentally provoked, anecdotal familial clustering has been reported, suggesting that 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 which germline sequence data had been generated as part of The Cancer Genome Atlas project but had not been previously analyzed...
November 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
#9
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...
December 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28814502/selective-regulation-of-clathrin-mediated-epidermal-growth-factor-receptor-signaling-and-endocytosis-by-phospholipase-c-and-calcium
#10
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 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...
October 15, 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
#11
Nora Katabi, Bin Xu, Achim A Jungbluth, Lei Zhang, Sung Y Shao, Jason Lane, Ronald Ghossein, Cristina R Antonescu
AIMS: Pleomorphic adenoma gene 1 (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 tumours. 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 hybridisation (FISH)...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28794017/differential-recruitment-of-e3-ubiquitin-ligase-complexes-regulates-ret-isoform-internalization
#12
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 ubiquitylated by CBL, which is recruited through interactions with the GRB2 adaptor protein...
October 1, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28791645/measurement-of-epidermal-growth-factor-receptor-derived-signals-within-plasma-membrane-clathrin-structures
#13
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
#14
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
#15
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...
October 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28692601/recurrent-braf-gene-rearrangements-in-myxoinflammatory-fibroblastic-sarcomas-but-not-hemosiderotic-fibrolipomatous-tumors
#16
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...
November 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
#17
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, radiological and pathological 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
#18
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
#19
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
#20
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
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