Literature DB >> 26098867

Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney.

Hitomi Ueno-Yokohata1, Hajime Okita1, Keiko Nakasato1, Shingo Akimoto1, Jun-ichi Hata2, Tsugumichi Koshinaga3, Masahiro Fukuzawa4, Nobutaka Kiyokawa1.   

Abstract

Clear cell sarcoma of the kidney (CCSK) is one of the major pediatric renal neoplasms, but its associated genetic abnormalities are largely unknown. We identified internal tandem duplications in the BCOR gene (BCL6 corepressor) affecting the C terminus in 100% (20/20) of CCSK tumors but in none (0/193) of the other pediatric renal tumors. CCSK tumors expressed only an aberrant BCOR allele, indicating a close correlation between BCOR aberration and CCSK tumorigenesis.

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Year:  2015        PMID： 26098867     DOI： 10.1038/ng.3338

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  20 in total

1.  Clear cell sarcoma of the kidney: a review of 351 cases from the National Wilms Tumor Study Group Pathology Center.

Authors:  P Argani; E J Perlman; N E Breslow; N G Browning; D M Green; G J D'Angio; J B Beckwith
Journal:  Am J Surg Pathol       Date:  2000-01       Impact factor: 6.394

2.  Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.

Authors:  Vera Grossmann; Enrico Tiacci; Antony B Holmes; Alexander Kohlmann; Maria Paola Martelli; Wolfgang Kern; Ariele Spanhol-Rosseto; Hans-Ulrich Klein; Martin Dugas; Sonja Schindela; Vladimir Trifonov; Susanne Schnittger; Claudia Haferlach; Renato Bassan; Victoria A Wells; Orietta Spinelli; Joseph Chan; Roberta Rossi; Stefano Baldoni; Luca De Carolis; Katharina Goetze; Hubert Serve; Rudolf Peceny; Karl-Anton Kreuzer; Daniel Oruzio; Giorgina Specchia; Francesco Di Raimondo; Francesco Fabbiano; Marco Sborgia; Arcangelo Liso; Laurent Farinelli; Alessandro Rambaldi; Laura Pasqualucci; Raul Rabadan; Torsten Haferlach; Brunangelo Falini
Journal:  Blood       Date:  2011-10-19       Impact factor: 22.113

3.  Optimal duration of preoperative therapy in unilateral and nonmetastatic Wilms' tumor in children older than 6 months: results of the Ninth International Society of Pediatric Oncology Wilms' Tumor Trial and Study.

Authors:  M F Tournade; C Com-Nougué; J de Kraker; R Ludwig; A Rey; J M Burgers; B Sandstedt; J Godzinski; M Carli; R Potter; J M Zucker
Journal:  J Clin Oncol       Date:  2001-01-15       Impact factor: 44.544

4.  Clear cell sarcomas of the kidney registered on International Society of Pediatric Oncology (SIOP) 93-01 and SIOP 2001 protocols: a report of the SIOP Renal Tumour Study Group.

Authors:  R Furtwängler; S L Gooskens; H van Tinteren; J de Kraker; G Schleiermacher; C Bergeron; B de Camargo; T Acha; J Godzinski; B Sandstedt; I Leuschner; G M Vujanic; R Pieters; N Graf; M M van den Heuvel-Eibrink
Journal:  Eur J Cancer       Date:  2013-07-20       Impact factor: 9.162

5.  The Polycomb group protein EZH2 directly controls DNA methylation.

Authors:  Emmanuelle Viré; Carmen Brenner; Rachel Deplus; Loïc Blanchon; Mario Fraga; Céline Didelot; Lluis Morey; Aleyde Van Eynde; David Bernard; Jean-Marie Vanderwinden; Mathieu Bollen; Manel Esteller; Luciano Di Croce; Yvan de Launoit; François Fuks
Journal:  Nature       Date:  2005-12-14       Impact factor: 49.962

6.  Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors.

Authors:  Jack F Shern; Li Chen; Juliann Chmielecki; Jun S Wei; Rajesh Patidar; Mara Rosenberg; Lauren Ambrogio; Daniel Auclair; Jianjun Wang; Young K Song; Catherine Tolman; Laura Hurd; Hongling Liao; Shile Zhang; Dominik Bogen; Andrew S Brohl; Sivasish Sindiri; Daniel Catchpoole; Thomas Badgett; Gad Getz; Jaume Mora; James R Anderson; Stephen X Skapek; Frederic G Barr; Matthew Meyerson; Douglas S Hawkins; Javed Khan
Journal:  Cancer Discov       Date:  2014-01-23       Impact factor: 39.397

7.  Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs.

Authors:  Sarah E Junco; Renjing Wang; John C Gaipa; Alexander B Taylor; Virgil Schirf; Micah D Gearhart; Vivian J Bardwell; Borries Demeler; P John Hart; Chongwoo A Kim
Journal:  Structure       Date:  2013-03-21       Impact factor: 5.006

8.  Rhabdoid tumor: gene expression clues to pathogenesis and potential therapeutic targets.

Authors:  Samantha Gadd; Simone Treiger Sredni; Chiang-Ching Huang; Elizabeth J Perlman
Journal:  Lab Invest       Date:  2010-03-08       Impact factor: 5.662

9.  Variant PRC1 complex-dependent H2A ubiquitylation drives PRC2 recruitment and polycomb domain formation.

Authors:  Neil P Blackledge; Anca M Farcas; Takashi Kondo; Hamish W King; Joanna F McGouran; Lars L P Hanssen; Shinsuke Ito; Sarah Cooper; Kaori Kondo; Yoko Koseki; Tomoyuki Ishikura; Hannah K Long; Thomas W Sheahan; Neil Brockdorff; Benedikt M Kessler; Haruhiko Koseki; Robert J Klose
Journal:  Cell       Date:  2014-05-22       Impact factor: 41.582

10.  DNA methylation profile distinguishes clear cell sarcoma of the kidney from other pediatric renal tumors.

Authors:  Hitomi Ueno; Hajime Okita; Shingo Akimoto; Kenichiro Kobayashi; Kazuhiko Nakabayashi; Kenichiro Hata; Junichiro Fujimoto; Jun-Ichi Hata; Masahiro Fukuzawa; Nobutaka Kiyokawa
Journal:  PLoS One       Date:  2013-04-26       Impact factor: 3.240
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  50 in total

1.  Kidney cancer: BCOR mutations that might help in diagnosis of CCSK.

Authors:  Rebecca Kelsey
Journal:  Nat Rev Urol       Date:  2015-07-07       Impact factor: 14.432

2.  Clear cell sarcoma of the kidney in children: a clinopathologic analysis of three cases.

Authors:  Shaohua Chen; Ming Li; Ran Li; Jintao Cao; Qiong Wu; Ting Zhou; Zhaogen Cai; Nan Li
Journal:  Int J Clin Exp Pathol       Date:  2020-04-01

3.  Diffuse Strong BCOR Immunoreactivity Is a Sensitive and Specific Marker for Clear Cell Sarcoma of the Kidney (CCSK) in Pediatric Renal Neoplasia.

Authors:  Pedram Argani; Bruce Pawel; Sara Szabo; Miguel Reyes-Múgica; Charles Timmons; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2018-08       Impact factor: 6.394

4.  Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.

Authors:  Lien N Hoang; Amandeep Aneja; Niamh Conlon; Deborah F Delair; Sumit Middha; Ryma Benayed; Martee L Hensley; Kay J Park; Travis J Hollmann; Meera R Hameed; Cristina R Antonescu; Robert A Soslow; Sarah Chiang
Journal:  Am J Surg Pathol       Date:  2017-01       Impact factor: 6.394

5.  New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs.

Authors:  Dominik Sturm; Brent A Orr; Umut H Toprak; Volker Hovestadt; David T W Jones; David Capper; Martin Sill; Ivo Buchhalter; Paul A Northcott; Irina Leis; Marina Ryzhova; Christian Koelsche; Elke Pfaff; Sariah J Allen; Gnanaprakash Balasubramanian; Barbara C Worst; Kristian W Pajtler; Sebastian Brabetz; Pascal D Johann; Felix Sahm; Jüri Reimand; Alan Mackay; Diana M Carvalho; Marc Remke; Joanna J Phillips; Arie Perry; Cynthia Cowdrey; Rachid Drissi; Maryam Fouladi; Felice Giangaspero; Maria Łastowska; Wiesława Grajkowska; Wolfram Scheurlen; Torsten Pietsch; Christian Hagel; Johannes Gojo; Daniela Lötsch; Walter Berger; Irene Slavc; Christine Haberler; Anne Jouvet; Stefan Holm; Silvia Hofer; Marco Prinz; Catherine Keohane; Iris Fried; Christian Mawrin; David Scheie; Bret C Mobley; Matthew J Schniederjan; Mariarita Santi; Anna M Buccoliero; Sonika Dahiya; Christof M Kramm; André O von Bueren; Katja von Hoff; Stefan Rutkowski; Christel Herold-Mende; Michael C Frühwald; Till Milde; Martin Hasselblatt; Pieter Wesseling; Jochen Rößler; Ulrich Schüller; Martin Ebinger; Jens Schittenhelm; Stephan Frank; Rainer Grobholz; Istvan Vajtai; Volkmar Hans; Reinhard Schneppenheim; Karel Zitterbart; V Peter Collins; Eleonora Aronica; Pascale Varlet; Stephanie Puget; Christelle Dufour; Jacques Grill; Dominique Figarella-Branger; Marietta Wolter; Martin U Schuhmann; Tarek Shalaby; Michael Grotzer; Timothy van Meter; Camelia-Maria Monoranu; Jörg Felsberg; Guido Reifenberger; Matija Snuderl; Lynn Ann Forrester; Jan Koster; Rogier Versteeg; Richard Volckmann; Peter van Sluis; Stephan Wolf; Tom Mikkelsen; Amar Gajjar; Kenneth Aldape; Andrew S Moore; Michael D Taylor; Chris Jones; Nada Jabado; Matthias A Karajannis; Roland Eils; Matthias Schlesner; Peter Lichter; Andreas von Deimling; Stefan M Pfister; David W Ellison; Andrey Korshunov; Marcel Kool
Journal:  Cell       Date:  2016-02-25       Impact factor: 41.582

6.  BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology.

Authors:  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
Journal:  Mod Pathol       Date:  2017-06-16       Impact factor: 7.842

7.  BCOR-CCNB3 Fusion Positive Sarcomas: A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas.

Authors:  Yu-Chien Kao; Adepitan A Owosho; Yun-Shao Sung; Lei Zhang; Yumi Fujisawa; Jen-Chieh Lee; Leonard Wexler; Pedram Argani; David Swanson; Brendan C Dickson; Christopher D M Fletcher; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2018-05       Impact factor: 6.394

8.  BCOR-CCNB3 fusion and BCOR internal tandem duplication in undifferentiated round cell sarcoma: a pathologic and molecular study of 5 cases.

Authors:  Yang Yang; Huijuan Shi; Jiaxin Zheng; Huabin Gao; Tiantian Zhen; Fenfen Zhang; Anjia Han
Journal:  Am J Transl Res       Date:  2019-09-15       Impact factor: 4.060

9.  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.

Authors:  Pedram Argani; Yu-Chien Kao; Lei Zhang; Carlos Bacchi; Andres Matoso; Rita Alaggio; Jonathan I Epstein; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2017-12       Impact factor: 6.394

10.  KDM2B Recruitment of the Polycomb Group Complex, PRC1.1, Requires Cooperation between PCGF1 and BCORL1.

Authors:  Sarah J Wong; Micah D Gearhart; Alexander B Taylor; David R Nanyes; Daniel J Ha; Angela K Robinson; Jason A Artigas; Oliver J Lee; Borries Demeler; P John Hart; Vivian J Bardwell; Chongwoo A Kim
Journal:  Structure       Date:  2016-08-25       Impact factor: 5.006
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