JavaScript is NOT enabled !

Please enable JavaScript.

Article

PubMed

This record comes from PubMed

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

Andreasen, Simon
Author Andreasen, Simon ORCID Department of Otorhinolaryngology Head and Neck Surgery and Audiology, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark. Simon@Andreasen.pm Department of Pathology, Rigshospitalet, Copenhagen, Denmark. Simon@Andreasen.pm
Bishop, Justin A
Author Bishop, Justin A Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Hellquist, Henrik
Author Hellquist, Henrik Epigenetics and Human Disease Laboratory, Department of Biomedical Sciences, CBMR, Algarve Biomedical Centre, University of Algarve, Faro, Portugal
Hunt, Jennifer
Author Hunt, Jennifer Department of Pathology and Laboratory Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA
Kiss, Katalin
Author Kiss, Katalin Department of Pathology, Rigshospitalet, Copenhagen, Denmark
Rinaldo, Alessandra
Author Rinaldo, Alessandra University of Udine School of Medicine, Udine, Italy
Skálová, Alena
Author Skálová, Alena Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic
Willems, Stefan M
Author Willems, Stefan M Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands
Williams, Michelle
Author Williams, Michelle Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Ferlito, Alfio
Author Ferlito, Alfio Coordinator of the International Head and Neck Scientific Group, Padua, Italy

Virchows Archiv. 2018 Nov ; 473 (5) : 615-626. [epub] 20180814

Virchows Arch
ISSN 1432-2307 | 0945-6317
Source

Language English Country Germany Media print-electronic

Document type Case Reports, Journal Article, Review

Persistent link https://www.medvik.cz/link/pmid30109475

PubMed 30109475
DOI 10.1007/s00428-018-2426-x
PII: 10.1007/s00428-018-2426-x
Knihovny.cz E-resources

Keywords
Biphenotypic sinonasal sarcoma, PAX3-MAML3, PAX3-NCOA1, Prognosis, Recurrence, Sinonasal sarcoma,
MeSH
DNA-Binding Proteins genetics MeSH
Adult MeSH
Phenotype MeSH
Forkhead Box Protein O1 genetics MeSH
Gene Fusion MeSH
Oncogene Proteins, Fusion genetics MeSH
Gene Rearrangement MeSH
Immunohistochemistry MeSH
Nuclear Proteins genetics MeSH
Nuclear Receptor Coactivator 1 genetics MeSH
Middle Aged MeSH
Humans MeSH
Biomarkers, Tumor genetics MeSH
Paranasal Sinus Neoplasms diagnosis genetics pathology MeSH
Prognosis MeSH
Sarcoma diagnosis genetics pathology MeSH
Aged, 80 and over MeSH
Aged MeSH
Trans-Activators MeSH
PAX3 Transcription Factor genetics MeSH
Paired Box Transcription Factors genetics MeSH
Transcription Factors genetics MeSH
Check Tag
Adult MeSH
Middle Aged MeSH
Humans MeSH
Male MeSH
Aged, 80 and over MeSH
Aged MeSH
Female MeSH
Publication type
Journal Article MeSH
Case Reports MeSH
Review MeSH
Names of Substances
DNA-Binding Proteins MeSH
Forkhead Box Protein O1 MeSH
FOXO1 protein, human MeSH Browser
Oncogene Proteins, Fusion MeSH
Nuclear Proteins MeSH
Nuclear Receptor Coactivator 1 MeSH
MAML3 protein, human MeSH Browser
Biomarkers, Tumor MeSH
NCOA1 protein, human MeSH Browser
PAX3 protein, human MeSH Browser
PAX3-FOXO1A fusion protein, human MeSH Browser
Trans-Activators MeSH
PAX3 Transcription Factor MeSH
Paired Box Transcription Factors MeSH
Transcription Factors MeSH

Biphenotypic sinonasal sarcoma (BSNS) is a recently recognized type of sarcoma arising exclusively in the sinonasal tract displaying unique clinical course, histopathology, and genetics. Due to its rarity, only case series and case reports are available. In order to provide an overview of the current understanding of this disease, we present a comprehensive review of the literature and present three previously unreported cases of BSNS. A total of 55 genetically characterized and 41 cases without molecular data were identified in the literature. Two-thirds of patients were female and the peak incidence was in the fifth decade. Fatal outcome was rare (two cases with intracranial extension) and local recurrence occurred in 31.6%, all occurring within 5 years after initial treatment. Histologically, BSNS is highly cellular in the majority of cases and composed of fascicles of spindle cells, with entrapped hyperplastic surface epithelium being a frequent finding. The immunohistochemical profile is characteristic due to the biphasic nature of this lesion, with shared features of both myogenic and neural origin. Rhabdomyoblastic differentiation is apparent in a subset of cases. The most common genetic event is the PAX3-MAML3 fusion (58.6%) but isolated PAX3 rearrangement (19.2%), absence of rearrangements (9.1%), PAX3-FOXO1 (8.1%), PAX3-NCOA1 (4%), and isolated MAML3 rearrangement (2%) have also been reported. In conclusion, the recognition of BSNS is crucial due to its relatively indolent clinical course. A selected immunohistochemical panel and/or molecular confirmation can be used to aid in appropriate diagnosis and consequently in prognostication and to avoid overtreatment with chemotherapy regimens used in its mimics.

Coordinator of the International Head and Neck Scientific Group Padua Italy

Department of Otorhinolaryngology Head and Neck Surgery and Audiology Rigshospitalet Blegdamsvej 9 2100 Copenhagen Denmark

Department of Pathology and Laboratory Medicine University of Arkansas for Medical Sciences Little Rock AR USA

Department of Pathology Faculty of Medicine in Plzen Charles University Plzen Czech Republic

Department of Pathology Rigshospitalet Copenhagen Denmark

Department of Pathology The University of Texas MD Anderson Cancer Center Houston TX USA

Department of Pathology University Medical Center Utrecht Utrecht Netherlands

Department of Pathology University of Texas Southwestern Medical Center Dallas TX USA

Epigenetics and Human Disease Laboratory Department of Biomedical Sciences CBMR Algarve Biomedical Centre University of Algarve Faro Portugal

University of Udine School of Medicine Udine Italy

See more in PubMed

Curr Opin Oncol. 2003 May;15(3):239-52 PubMed