Publication

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

Andreasen, S., Bishop, J. A., Hellquist, H., Hunt, J., Kiss, K., Rinaldo, A., Skálová, A., Willems, S. M., Williams, M. & Ferlito, A., Nov-2018, In : Virchows Archiv : an International Journal of Pathology. 473, 5, p. 615-626 12 p.

Research output: Contribution to journalReview articleAcademicpeer-review

APA

Andreasen, S., Bishop, J. A., Hellquist, H., Hunt, J., Kiss, K., Rinaldo, A., ... Ferlito, A. (2018). Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity. Virchows Archiv : an International Journal of Pathology, 473(5), 615-626. https://doi.org/10.1007/s00428-018-2426-x

Author

Andreasen, Simon ; Bishop, Justin A ; Hellquist, Henrik ; Hunt, Jennifer ; Kiss, Katalin ; Rinaldo, Alessandra ; Skálová, Alena ; Willems, Stefan M ; Williams, Michelle ; Ferlito, Alfio. / Biphenotypic sinonasal sarcoma : demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity. In: Virchows Archiv : an International Journal of Pathology. 2018 ; Vol. 473, No. 5. pp. 615-626.

Harvard

Andreasen, S, Bishop, JA, Hellquist, H, Hunt, J, Kiss, K, Rinaldo, A, Skálová, A, Willems, SM, Williams, M & Ferlito, A 2018, 'Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity', Virchows Archiv : an International Journal of Pathology, vol. 473, no. 5, pp. 615-626. https://doi.org/10.1007/s00428-018-2426-x

Standard

Biphenotypic sinonasal sarcoma : demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity. / Andreasen, Simon; Bishop, Justin A; Hellquist, Henrik; Hunt, Jennifer; Kiss, Katalin; Rinaldo, Alessandra; Skálová, Alena; Willems, Stefan M; Williams, Michelle; Ferlito, Alfio.

In: Virchows Archiv : an International Journal of Pathology, Vol. 473, No. 5, 11.2018, p. 615-626.

Research output: Contribution to journalReview articleAcademicpeer-review

Vancouver

Andreasen S, Bishop JA, Hellquist H, Hunt J, Kiss K, Rinaldo A et al. Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity. Virchows Archiv : an International Journal of Pathology. 2018 Nov;473(5):615-626. https://doi.org/10.1007/s00428-018-2426-x


BibTeX

@article{a92d9e3b663c449698a1744fd262272d,
title = "Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity",
abstract = "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.",
keywords = "Adult, Aged, Aged, 80 and over, Biomarkers, Tumor/genetics, DNA-Binding Proteins/genetics, Female, Forkhead Box Protein O1/genetics, Gene Fusion, Gene Rearrangement, Humans, Immunohistochemistry, Male, Middle Aged, Nuclear Proteins/genetics, Nuclear Receptor Coactivator 1/genetics, Oncogene Proteins, Fusion/genetics, PAX3 Transcription Factor/genetics, Paired Box Transcription Factors/genetics, Paranasal Sinus Neoplasms/diagnosis, Phenotype, Prognosis, Sarcoma/diagnosis, Transcription Factors/genetics",
author = "Simon Andreasen and Bishop, {Justin A} and Henrik Hellquist and Jennifer Hunt and Katalin Kiss and Alessandra Rinaldo and Alena Sk{\'a}lov{\'a} and Willems, {Stefan M} and Michelle Williams and Alfio Ferlito",
year = "2018",
month = "11",
doi = "10.1007/s00428-018-2426-x",
language = "English",
volume = "473",
pages = "615--626",
journal = "Virchows Archiv",
issn = "0945-6317",
publisher = "SPRINGER",
number = "5",

}

RIS

TY - JOUR

T1 - Biphenotypic sinonasal sarcoma

T2 - demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity

AU - Andreasen, Simon

AU - Bishop, Justin A

AU - Hellquist, Henrik

AU - Hunt, Jennifer

AU - Kiss, Katalin

AU - Rinaldo, Alessandra

AU - Skálová, Alena

AU - Willems, Stefan M

AU - Williams, Michelle

AU - Ferlito, Alfio

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Biomarkers, Tumor/genetics

KW - DNA-Binding Proteins/genetics

KW - Female

KW - Forkhead Box Protein O1/genetics

KW - Gene Fusion

KW - Gene Rearrangement

KW - Humans

KW - Immunohistochemistry

KW - Male

KW - Middle Aged

KW - Nuclear Proteins/genetics

KW - Nuclear Receptor Coactivator 1/genetics

KW - Oncogene Proteins, Fusion/genetics

KW - PAX3 Transcription Factor/genetics

KW - Paired Box Transcription Factors/genetics

KW - Paranasal Sinus Neoplasms/diagnosis

KW - Phenotype

KW - Prognosis

KW - Sarcoma/diagnosis

KW - Transcription Factors/genetics

U2 - 10.1007/s00428-018-2426-x

DO - 10.1007/s00428-018-2426-x

M3 - Review article

VL - 473

SP - 615

EP - 626

JO - Virchows Archiv

JF - Virchows Archiv

SN - 0945-6317

IS - 5

ER -

ID: 124010338