Sinonasal carcinomas represent a rare and diverse group of tumors, presenting diagnostic complexities due to their varied histological and molecular features. To ensure accurate differentiation among these malignancies, a systematic and stepwise approach is paramount. Even with the morphological similarities between poorly differentiated (non) keratinizing sinonasal squamous cell carcinoma (SNSCC) and DEK::AFF2 SNSCC, the two lesions are distinguishable using the surrogate immunohistochemical marker AFF2 or molecular testing for DEK::AFF2 mutation. We report a rare case of SMARCB1-retained DEK::AFF2 papillary non-keratinizing SNSCC in a 53-year-old female, who presented with a polypoid mass corresponding to the left middle turbinate. Following the surgical resection of the tumor and locoregional lymph nodes, adjuvant radiotherapy was administered to eradicate any residual cancer cells that may have remained after surgery.

• Klíčová slova
• CSNE pobremente diferenciado no queratinizante, DEK::AFF2 fusion carcinoma, FISH, Fusión de DEK::AFF2 carcinoma, Poorly differentiated non-keratinizing SNSCC, Sinonasal,
• MeSH
• algoritmy MeSH
• buněčná diferenciace MeSH
• jaderné proteiny MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfatické uzliny MeSH
• nádory vedlejších dutin nosních * diagnóza   genetika   MeSH
• spinocelulární karcinom * diagnóza   genetika   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• AFF2 protein, human MeSH Prohlížeč
• jaderné proteiny MeSH

Classification of tumors of the head and neck has evolved in recent decades including a widespread application of molecular testing in tumors of the sinonasal tract, salivary glands, and soft tissues with a predilection for the head and neck. The availability of new molecular techniques has allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, an expanding spectrum of immunohistochemical markers specific to genetic alterations facilitates rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined tumor classification while making diagnoses that are still based largely on histopathology and immunohistochemistry. This review covers the principal molecular alterations in sinonasal malignancies, such as alterations in DEK, AFF2, NUTM1, IDH1-2, and SWI/SNF genes in particular, that are important from a practical standpoint for diagnosis, prognosis, and prediction of response to treatment.

• Klíčová slova
• Head and neck, Molecular diagnostics, Next-generation sequencing, Sinonasal, Sinonasal tumor, Soft tissue,
• MeSH
• lidé MeSH
• nádorové biomarkery * genetika   analýza   MeSH
• nádory vedlejších dutin nosních * patologie   genetika   klasifikace   diagnóza   MeSH
• Světová zdravotnická organizace MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• nádorové biomarkery * 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.

• 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

BACKGROUND: Epigenetic modifications have been recognized as an important mechanism underlying carcinoma progression. DNA methylation plays an important role in cancer biology and represents potentially heritable changes in gene expression that do not involve DNA sequence. The aim of this study was to investigate promoter methylation of selected genes in sinonasal carcinoma by comparison with noncancerous sinonasal tissue. METHODS: To search for epigenetic events (methylation in 25 tumor suppressor genes) we used MS-MLPA (Methylation-specific multiplex ligation-dependent probe amplification) to compare methylation status of 59 formalin fixed, paraffin embedded tissue samples of sinonasal carcinomas with 18 control samples. The most important changes in methylation were confirmed using MSP (Methylation specific PCR). Detected alterations in methylation were compared with clinicopathological characteristics. RESULTS: Using a 20% cut-off for methylation (MS-MLPA), we found significantly higher methylation in GATA5 (P=0.0005), THSB1 (P=0.0002) and PAX5 (P=0.03) genes in the sinonasal cancer group compared to the control group. Methylation in five or more genes was associated with impaired overall survival (P=0.017). CONCLUSION: These findings provide evidence that alterations in methylation profile may be one of the major mechanisms in sinonasal carcinogenesis. In addition, changes in methylation could potentially be used as prognostic factors of sinonasal carcinoma and may have implications for future individualized therapy based on epigenetic changes.

• Klíčová slova
• DNA methylation, biomarkers, epigenetics, sinonasal carcinoma,
• MeSH
• dospělí MeSH
• epigeneze genetická genetika   MeSH
• geny nádorové genetika   MeSH
• Kaplanův-Meierův odhad MeSH
• lidé středního věku MeSH
• lidé MeSH
• metylace DNA fyziologie   MeSH
• mladý dospělý MeSH
• nádorové biomarkery fyziologie   MeSH
• nádory vedlejších dutin nosních diagnóza   genetika   mortalita   MeSH
• prognóza MeSH
• promotorové oblasti (genetika) genetika   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery MeSH

UNLABELLED: Presentation of two case reports about our experiences with diagnostics of paranasal tumours in patients with diplopia or ocular motility disorders which were the first symptoms of these tumours. Furthermore, the following diagnostic and therapeutic procedure which has been conducted in cooperation with other hospital departments is presented. The first case report is an example of primary paranasal tumour, the second case report represents secondary infiltration of maxillary sinus and orbital invasion. METHODS: A case reports.Key words: diplopia, paranasal tumours, orbital invasion, spinocellulary carcinoma.

• MeSH
• diplopie diagnóza   MeSH
• eviscerace oka MeSH
• invazivní růst nádoru MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• nádory orbity diagnóza   MeSH
• nádory vedlejších dutin nosních diagnóza   MeSH
• počítačová rentgenová tomografie MeSH
• poruchy hybnosti oka diagnóza   MeSH
• senioři MeSH
• spinocelulární karcinom diagnóza   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Authors address the issue of a frequent benign tumour of the nasal cavity and paranasal sinuses - inverted papilloma. They analyse the available diagnostic methods and treatment options. On the background of selected case reports of a rare malignant transformation they emphasize the need for longterm dispensarization as a part of management plan for patients with this oncological disease.

• MeSH
• invertovaný papilom diagnóza   patologie   terapie   MeSH
• lidé MeSH
• nádorová transformace buněk patologie   MeSH
• nádory nosu diagnóza   patologie   terapie   MeSH
• nádory vedlejších dutin nosních diagnóza   terapie   MeSH
• nosní dutina * patologie   MeSH
• vzácné nemoci diagnóza   patologie   terapie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

Oncocytic Schneiderian papilloma (OSP) is one of the three morphologically distinct tumors that arise from Schneiderian membrane (the others include exophytic papilloma and inverted papilloma). OSP almost always occurs unilaterally in the paranasal sinuses, usually in the maxillary sinus, ethmoid cells or sphenoid sinus. We report a case of a 64-year-old woman with OSP arising from the left frontal sinus. In the report herein, we describe an OSP originating in the region of frontal sinus, which, to the best of our knowledge, represents the first documented example in English literature of OSP developing in this anatomical site.

• MeSH
• biopsie MeSH
• diferenciální diagnóza MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory vedlejších dutin nosních diagnóza   chirurgie   MeSH
• otorinolaryngologické chirurgické výkony metody   MeSH
• papilom diagnóza   chirurgie   MeSH
• počítačová rentgenová tomografie MeSH
• sinus frontalis * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

BACKGROUND: Oncogenous osteomalacia (OOM), which is also known as tumour-induced osteomalacia, is a rare condition associated with a neoplasm and a related systemic bone demineralization caused by renal phosphate wasting. OOM usually occurs in association with a variety of different mesenchymal tumours, and they were categorized into four distinct morphological patterns which they termed "phosphaturic mesenchymal tumour". Of its 4 histopathological subtypes, the mixed connective tissue variant is most commonly observed. Only 10% of cases appear in the head and neck regions and moreover, only 5 previously published tumors were localized in the sinonasal area. The authors describe a case of a man with a PMT originating from the frontoethmoidal region. CASE PRESENTATION: A 53-year-old man was referred to our ORL clinic due to a presence of a mass at the nasal root having been growing asymptomatically for 1 year. CT scans demonstrated a large (25 × 20 × 35 mm) bilateral frontoethmoidal mass with destruction of nasal bones. The tumor did not appear to invade to the anterior skull base. A selective angiography revealed a moderate hypervascularization of the tumour during early and late arterial phases. The tumour was removed from the external approach and the definitive histopathological diagnosis was a phospaturic mesenchymal tumor. Dual energy X-ray absorptiometry revealed a slight osteopenia of the first and second lumbar vertebrae and neck of the thigh bone. The serum and urinary levels of both calcium and anorganic phosphate were within normal limits. The patient is doing well three years after the operation, and the serum and urine levels of calcium and phosphate remain well within normal limits. CONCLUSION: PMT is rare in the sinonasal region, it can be rarely observed without the signs of osteomalacia.

• MeSH
• dospělí MeSH
• fosfáty krev   moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mezenchymom diagnóza   metabolismus   patologie   MeSH
• nádory kostí diagnóza   metabolismus   patologie   MeSH
• nádory vedlejších dutin nosních diagnóza   metabolismus   patologie   MeSH
• nádory z pojivové tkáně diagnóza   metabolismus   patologie   MeSH
• osteomalacie MeSH
• paraneoplastické syndromy MeSH
• počítačová rentgenová tomografie MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• fosfáty MeSH

The authors describe the case-history of a 63-years-old patient with primary carcinoma of the sphenoid sinus. The tumour penetrated through the lateral wall of the sinus into the intracranium. It was manifested by pain in the left half of the face, Horner's syndrome and paresis of the abducent nerve. The diagnosis was based on the case-history, clinical picture, computed tomography and biopsy. A non-differentiated carcinoma was involved. The authors discuss the reasons of the retarded diagnosis.

• MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory vedlejších dutin nosních * diagnóza   terapie   MeSH
• sinus sphenoidalis * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• dítě MeSH
• lidé MeSH
• nádory nosu * diagnóza   patologie   chirurgie   MeSH
• nádory vedlejších dutin nosních * diagnóza   patologie   chirurgie   MeSH
• nosní dutina MeSH
• periferní primitivní neuroektodermové nádory * diagnóza   patologie   chirurgie   MeSH
• sinus ethmoidalis * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH