Journal ArticleDOI
Tumors With EWSR1-CREB1 and EWSR1-ATF1 Fusions: The Current Status
Khin Thway,Cyril Fisher +1 more
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TLDR
A review of the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR-ATF1 genetic fusions, which have now been consistently described in 5 histopathologically and behaviorally diverse neoplasm.Abstract:
EWSR1-CREB1 and EWSR1-ATF1 are gene fusions of which one or both have now been consistently described in 5 histopathologically and behaviorally diverse neoplasms: angiomatoid fibrous histiocytoma, conventional clear cell sarcoma (of tendons and aponeuroses), clear cell sarcoma-like tumor of the gastrointestinal tract, hyalinizing clear cell carcinoma of the salivary gland, and primary pulmonary myxoid sarcoma. Some of the tumors in this group have been described only recently, and others have been the subject of recent genetic insights contributing to their characterization. These neoplasms are all rare; yet, the increasing frequency with which EWSR1-CREB1 and EWSR1-ATF1 fusions are being described in separate entities is noteworthy. The additional molecular mechanisms by which tumors with such variable morphologic, immunohistochemical, and clinical phenotypes are generated are yet to be understood. We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions.read more
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The 2015 World Health Organization Classification of Lung Tumors: Impact of Genetic, Clinical and Radiologic Advances Since the 2004 Classification
William D. Travis,Elisabeth Brambilla,Andrew G. Nicholson,Yasushi Yatabe,John H.M. Austin,Mary Beth Beasley,Lucian R. Chirieac,Sanja Dacic,Edwina Duhig,Douglas B. Flieder,Kim R. Geisinger,Fred R. Hirsch,Yuichi Ishikawa,Keith M. Kerr,Masayuki Noguchi,Giuseppe Pelosi,Charles A. Powell,Ming-Sound Tsao,Ignacio I. Wistuba +18 more
TL;DR: The 2015 World Health Organization (WHO) Classification of Tumors of the Lung, Pleura, Thymus and Heart has just been published with numerous important changes from the 2004 WHO classification.
Journal ArticleDOI
Systemic treatment of soft-tissue sarcoma-gold standard and novel therapies.
TL;DR: This Review aims to describe the current gold standard treatment for specific STS subtypes as well as outline future promising therapies in the pipeline.
Journal ArticleDOI
PEComa: morphology and genetics of a complex tumor family ☆
Khin Thway,Cyril Fisher +1 more
TL;DR: PEComas constitute a genetically diverse group that includes neoplasms harboring TFE3 gene rearrangements and those with TSC2 mutations, indicating alternative tumorigenic pathways, and the PEComa "family" now includes angiomyolipoma, pulmonary clear cell "sugar" tumor and lymphangioleiomyomatosis, primary extrapulmonary sugar tumor.
Journal ArticleDOI
Clear cell odontogenic carcinomas show EWSR1 rearrangements: a novel finding and a biological link to salivary clear cell carcinomas.
Elizabeth A. Bilodeau,Ilan Weinreb,Cristina R. Antonescu,Lei Zhang,Sanja Dacic,Susan Muller,Bruce Barker,Raja R. Seethala +7 more
TL;DR: This study demonstrates for the first time the EWSR1-ATF1 translocation in a CCOC and demonstrates a concrete link between CCCs and at least a subset of CCOCs.
References
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Journal ArticleDOI
The impact of translocations and gene fusions on cancer causation
TL;DR: An analysis of available data shows that gene fusions occur in all malignancies, and that they account for 20% of human cancer morbidity, with the advent of new and powerful investigative tools that enable the detection of cytogenetically cryptic rearrangements.
Journal ArticleDOI
Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma.
TL;DR: The presence of an abnormal CHOP transcript and protein in these tumours is reported and Targeting of a conserved effector domain of RNA-binding proteins to DNA may play a role in tumour formation.
Journal Article
Fusion of the EWS and WT1 Genes in the Desmoplastic Small Round Cell Tumor
Marc Ladanyi,William L. Gerald +1 more
TL;DR: DSRCT represents the third primitive sarcoma in which the EWS gene is involved and the first instance of recurrent rearrangement of a tumor suppressor gene, WT1, in a specific tumor type.
Journal ArticleDOI
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts
Jessica Zucman,Olivier Delattre,Chantal Desmaze,Alan L. Epstein,Göran Stenman,Frank Speleman,Christopher D. M. Fletchers,Alain Aurias,Gilles Thomas +8 more
TL;DR: The deduced chimaeric protein encoded by the der(22) chromosome consists of the N–terminal domain of EWS linked to the bZIP domain of ATF–1, a transcription factor which may normally be regulated by cAMP.
Journal ArticleDOI
Mechanisms of sarcoma development
Lee J. Helman,Paul S. Meltzer +1 more
TL;DR: Insight into the genetic abnormalities that seem to underlie the pathogenesis of these tumours has already led to new classification of many sarcomas, as well as to successful therapies that are targeted at specific genetic abnormalities.