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.

• Klíčová slova
• Biphenotypic sinonasal sarcoma, PAX3-MAML3, PAX3-NCOA1, Prognosis, Recurrence, Sinonasal sarcoma,
• MeSH
• DNA vazebné proteiny genetika   MeSH
• dospělí MeSH
• fenotyp MeSH
• forkhead box protein O1 genetika   MeSH
• fúze genů MeSH
• fúzní onkogenní proteiny genetika   MeSH
• genová přestavba MeSH
• imunohistochemie MeSH
• jaderné proteiny genetika   MeSH
• koaktivátor 1 jaderných receptorů genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery genetika   MeSH
• nádory vedlejších dutin nosních diagnóza   genetika   patologie   MeSH
• prognóza MeSH
• sarkom diagnóza   genetika   patologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• trans-aktivátory MeSH
• transkripční faktor PAX3 genetika   MeSH
• transkripční faktory paired box genetika   MeSH
• transkripční faktory genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• DNA vazebné proteiny MeSH
• forkhead box protein O1 MeSH
• FOXO1 protein, human MeSH Prohlížeč
• fúzní onkogenní proteiny MeSH
• jaderné proteiny MeSH
• koaktivátor 1 jaderných receptorů MeSH
• MAML3 protein, human MeSH Prohlížeč
• nádorové biomarkery MeSH
• NCOA1 protein, human MeSH Prohlížeč
• PAX3 protein, human MeSH Prohlížeč
• PAX3-FOXO1A fusion protein, human MeSH Prohlížeč
• trans-aktivátory MeSH
• transkripční faktor PAX3 MeSH
• transkripční faktory paired box MeSH
• transkripční faktory MeSH

Two histologically distinct subtypes of rhabdomyosarcomas (RMS), embryonal and alveolar, are different in many aspects, such as age distribution, primary site, and clinical outcome. We analyzed a group of 30 patients with RMS. The aim was to broaden the spectrum of diagnostic tools in evaluating the primary tumors, their recurrences and/or metastases, and to extend the diagnostic boundary to bone marrow and purged peripheral progenitor blood cell samples. We have performed the RT-PCR assay to analyze RMS for the presence of expression of MyoD1 gene and for the presence of chimeric transcripts PAX3/FKHR or PAX7/FKHR. MyoD1 gene expression was found in all 30 patients in samples from primary tumors. The chimeric transcripts PAX/FKHR were identified in 13 of 15 patients with alveolar RMS. Furthermore, the fusion transcript PAX7/FKHR was identified in 2 of 15 patients with RMS classified as embryonal by histology. Bone marrow samples (12) and peripheral blood progenitor cell specimens (13) in ten patients were examined by RT-PCR. We were able to identify 7 patients with bone marrow involvement and/or with contamination of peripheral blood progenitor cells by the tumor cells. We demonstrate that employing molecular diagnostics has an impact on staging, therapy monitoring and recognition of malignant cells at the tumor resection margins.

• MeSH
• alveolární rhabdomyosarkom chemie   genetika   sekundární   terapie   MeSH
• diagnostické techniky molekulární metody   MeSH
• dítě MeSH
• embryonální rhabdomyosarkom chemie   genetika   sekundární   terapie   MeSH
• hematopoetické kmenové buňky patologie   MeSH
• imunohistochemie MeSH
• kojenec MeSH
• kostní dřeň patologie   MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• messenger RNA metabolismus   MeSH
• mladiství MeSH
• MyoD Protein genetika   metabolismus   MeSH
• nádorové biomarkery analýza   MeSH
• nádory svalů chemie   genetika   patologie   chirurgie   MeSH
• novorozenec MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• předškolní dítě MeSH
• rekombinantní fúzní proteiny analýza   genetika   MeSH
• RNA nádorová analýza   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• messenger RNA MeSH
• MyoD Protein MeSH
• MyoD1 myogenic differentiation protein MeSH Prohlížeč
• nádorové biomarkery MeSH
• rekombinantní fúzní proteiny MeSH
• RNA nádorová MeSH