TFE3-Altered Perivascular Epithelioid Cell Tumour (PEComa) of the Nasal Cavity With a Novel TRAF3::TFE3 Fusion - A Report of a Case Expanding the Molecular Genetic Spectrum and a Brief Literature Review on PEComas of the Head and Neck Region
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F25%3A10501044" target="_blank" >RIV/00216208:11140/25:10501044 - isvavai.cz</a>
Výsledek na webu
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LnSKiwb3j~" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LnSKiwb3j~</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/gcc.70075" target="_blank" >10.1002/gcc.70075</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
TFE3-Altered Perivascular Epithelioid Cell Tumour (PEComa) of the Nasal Cavity With a Novel TRAF3::TFE3 Fusion - A Report of a Case Expanding the Molecular Genetic Spectrum and a Brief Literature Review on PEComas of the Head and Neck Region
Popis výsledku v původním jazyce
Background: Perivascular epithelioid cell tumours (PEComas) constitute a unique group of neoplasms with a distinctive myomelanocytic immunohistochemical phenotype and uncommonly occur in the head and neck region. We herein report the clinicopathologic features of a case of a sinonasal PEComaoccurring in an 18-year-old male with a novel TRAF3::TFE3 fusion.Case Presentation: The patient presented with an infiltrative nasal cavity tumour. Histologic examination showed a tumour composed of sheets and nests of epithelioid cells with clear to eosinophilic granular cytoplasm, round to oval nuclei, inconspicuous nucleoli and no mitotic activity. The tumour cells featured strong diffuse expression of smooth muscle actin and nuclear TFE3, with patchy expression of HMB45. Neoplastic cells showed no immune-reactivity for Melan A. Molecular genetic analysis revealed a novel TRAF3(ex8)::TFE3(ex6) fusion.Conclusions: This report contributes to the expanding molecular spectrum of TFE3-altered PEComas of the head and neck region and discusses the differential diagnoses of these tumours. We further describe the evolving understanding of TFE3-altered PEComas.
Název v anglickém jazyce
TFE3-Altered Perivascular Epithelioid Cell Tumour (PEComa) of the Nasal Cavity With a Novel TRAF3::TFE3 Fusion - A Report of a Case Expanding the Molecular Genetic Spectrum and a Brief Literature Review on PEComas of the Head and Neck Region
Popis výsledku anglicky
Background: Perivascular epithelioid cell tumours (PEComas) constitute a unique group of neoplasms with a distinctive myomelanocytic immunohistochemical phenotype and uncommonly occur in the head and neck region. We herein report the clinicopathologic features of a case of a sinonasal PEComaoccurring in an 18-year-old male with a novel TRAF3::TFE3 fusion.Case Presentation: The patient presented with an infiltrative nasal cavity tumour. Histologic examination showed a tumour composed of sheets and nests of epithelioid cells with clear to eosinophilic granular cytoplasm, round to oval nuclei, inconspicuous nucleoli and no mitotic activity. The tumour cells featured strong diffuse expression of smooth muscle actin and nuclear TFE3, with patchy expression of HMB45. Neoplastic cells showed no immune-reactivity for Melan A. Molecular genetic analysis revealed a novel TRAF3(ex8)::TFE3(ex6) fusion.Conclusions: This report contributes to the expanding molecular spectrum of TFE3-altered PEComas of the head and neck region and discusses the differential diagnoses of these tumours. We further describe the evolving understanding of TFE3-altered PEComas.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30109 - Pathology
Návaznosti výsledku
Projekt
—
Návaznosti
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2025
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Genes, Chromosomes & Cancer
ISSN
1045-2257
e-ISSN
1098-2264
Svazek periodika
64
Číslo periodika v rámci svazku
8
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
8
Strana od-do
e70075
Kód UT WoS článku
001551519900001
EID výsledku v databázi Scopus
2-s2.0-105013585562