Literature DB >> 24859338

Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.

Xiaoke Wang1, Krista L Bledsoe2, Rondell P Graham1, Yan W Asmann3, David S Viswanatha4, Jean E Lewis4, Jason T Lewis4, Margaret M Chou5, Michael J Yaszemski6, Jin Jen7, Jennifer J Westendorf6, André M Oliveira8.   

Abstract

Biphenotypic sinonasal sarcoma (SNS) is a newly described tumor of the nasal and paranasal areas. Here we report a recurrent chromosomal translocation in SNS, t(2;4)(q35;q31.1), resulting in a PAX3-MAML3 fusion protein that is a potent transcriptional activator of PAX3 response elements. The SNS phenotype is characterized by aberrant expression of genes involved in neuroectodermal and myogenic differentiation, closely simulating the developmental roles of PAX3.

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24859338      PMCID： PMC4236026          DOI： 10.1038/ng.2989

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


  26 in total

1.  Low-grade sinonasal sarcoma with neural and myogenic features: a clinicopathologic analysis of 28 cases.

Authors:  Jason T Lewis; Andre M Oliveira; Antonio G Nascimento; David Schembri-Wismayer; Eric A Moore; Kerry D Olsen; Joaquin G Garcia; Melissa L Lonzo; Jean E Lewis
Journal:  Am J Surg Pathol       Date:  2012-04       Impact factor: 6.394

2.  Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling.

Authors:  Sey-En Lin; Toshinao Oyama; Takahiro Nagase; Kenichi Harigaya; Motoo Kitagawa
Journal:  J Biol Chem       Date:  2002-10-16       Impact factor: 5.157

3.  Differential PAX3 functions in normal skin melanocytes and melanoma cells.

Authors:  Sandra Medic; Helen Rizos; Mel Ziman
Journal:  Biochem Biophys Res Commun       Date:  2011-07-23       Impact factor: 3.575

4.  Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Authors:  J H Asher; A Sommer; R Morell; T B Friedman
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

5.  t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway.

Authors:  Giovanni Tonon; Sanjay Modi; Lizi Wu; Akihito Kubo; Amy B Coxon; Takefumi Komiya; Kevin O'Neil; Kristen Stover; Adel El-Naggar; James D Griffin; Ilan R Kirsch; Frederic J Kaye
Journal:  Nat Genet       Date:  2003-01-21       Impact factor: 38.330

6.  Two novel translocations, t(2;4)(q35;q31) and t(X;12)(q22;q24), as the only karyotypic abnormalities in a malignant peripheral nerve sheath tumor of the skull base.

Authors:  Ziv Gil; Dan M Fliss; Nadia Voskoboimik; Leonor Trejo-Leider; Avi Khafif; Yuval Yaron; Avi Orr-Urtreger
Journal:  Cancer Genet Cytogenet       Date:  2003-09

7.  An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Authors:  C T Baldwin; C F Hoth; J A Amos; E O da-Silva; A Milunsky
Journal:  Nature       Date:  1992-02-13       Impact factor: 49.962

8.  Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity.

Authors:  D A Underhill; K J Vogan; P Gros
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-25       Impact factor: 11.205

9.  A novel bioinformatics pipeline for identification and characterization of fusion transcripts in breast cancer and normal cell lines.

Authors:  Yan W Asmann; Asif Hossain; Brian M Necela; Sumit Middha; Krishna R Kalari; Zhifu Sun; High-Seng Chai; David W Williamson; Derek Radisky; Gary P Schroth; Jean-Pierre A Kocher; Edith A Perez; E Aubrey Thompson
Journal:  Nucleic Acids Res       Date:  2011-05-27       Impact factor: 16.971

10.  Identification of target genes of PAX3-FOXO1 in alveolar rhabdomyosarcoma.

Authors:  Eun Hyun Ahn; Gabriela E Mercado; Marick Laé; Marc Ladanyi
Journal:  Oncol Rep       Date:  2013-06-03       Impact factor: 3.906
View more
  38 in total

1.  Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation.

Authors:  Shih-Chiang Huang; Ronald A Ghossein; Justin A Bishop; Lei Zhang; Tse-Ching Chen; Hsuan-Ying Huang; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2016-01       Impact factor: 6.394

2.  Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.

Authors:  Katja Specht; Lei Zhang; Yun-Shao Sung; Marisa Nucci; Sarah Dry; Sumathi Vaiyapuri; Gunther H S Richter; Christopher D M Fletcher; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2016-04       Impact factor: 6.394

3.  A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions.

Authors:  Cristina R Antonescu; Narasimhan P Agaram; Yun-Shao Sung; Lei Zhang; David Swanson; Brendan C Dickson
Journal:  Am J Surg Pathol       Date:  2018-04       Impact factor: 6.394

Review 4.  Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity.

Authors:  Simon Andreasen; Justin A Bishop; Henrik Hellquist; Jennifer Hunt; Katalin Kiss; Alessandra Rinaldo; Alena Skálová; Stefan M Willems; Michelle Williams; Alfio Ferlito
Journal:  Virchows Arch       Date:  2018-08-14       Impact factor: 4.064

Review 5.  New tumor entities in the 4th edition of the World Health Organization classification of head and neck tumors: Nasal cavity, paranasal sinuses and skull base.

Authors:  Lester D R Thompson; Alessandro Franchi
Journal:  Virchows Arch       Date:  2017-04-25       Impact factor: 4.064

Review 6.  Imaging Review of New and Emerging Sinonasal Tumors and Tumor-Like Entities from the Fourth Edition of the World Health Organization Classification of Head and Neck Tumors.

Authors:  K E Dean; D Shatzkes; C D Phillips
Journal:  AJNR Am J Neuroradiol       Date:  2019-02-14       Impact factor: 3.825

7.  Biphenotypic Sinonasal Sarcoma-Case Report and Review of Clinicopathological Features and Diagnostic Modalities.

Authors:  Chandala Chitguppi; Ian Koszewski; Kaitlin Collura; Mark Curtis; Gurston Nyquist; Mindy Rabinowitz; Marc Rosen
Journal:  J Neurol Surg B Skull Base       Date:  2018-07-16

8.  Biphenotypic sinonasal sarcoma: an expanded immunoprofile including consistent nuclear β-catenin positivity and absence of SOX10 expression.

Authors:  Lisa M Rooper; Shih-Chiang Huang; Cristina R Antonescu; William H Westra; Justin A Bishop
Journal:  Hum Pathol       Date:  2016-04-29       Impact factor: 3.466

9.  TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

Authors:  Uta Flucke; Max M van Noesel; Marc Wijnen; Lei Zhang; Chun-Liang Chen; Yun-Shao Sung; Cristina R Antonescu
Journal:  Genes Chromosomes Cancer       Date:  2017-06-27       Impact factor: 5.006

Review 10.  [Sinonasal tumors : News from the WHO with special reference to mesenchymal entities].

Authors:  A Agaimy; F Haller; A Hartmann
Journal:  Pathologe       Date:  2018-02       Impact factor: 1.011
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.