TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3 -related neoplasms are rare in the head and neck and may pose diagnostic challenges. We herein describe 22 TFE3 fusion neoplasms affecting 11 males and 11 females aged 4 to 79 years (median, 25) and involving different head and neck sites: sinonasal cavities (n = 8), tongue (n = 4), oral cavity/oropharynx (n = 3), salivary glands (n = 2), orbit (n = 2), and soft tissue or unspecified sites (n = 3). Based on morphology and myomelanocytic immunophenotype, 10 tumors qualified as ASPS, 7 as PEComas (3 melanotic; all sinonasal), and 5 showed intermediate (indeterminate) histology overlapping with ASPS and PEComa. Immunohistochemistry for TFE3 was homogeneously strongly positive in all cases. Targeted RNA sequencing/FISH testing confirmed TFE3 fusions in 14 of 16 successfully tested cases (88%). ASPSCR1 was the most frequent fusion partner in ASPS (4 of 5 cases); one ASPS had a rare VCP::TFE3 fusion. The 6 successfully tested PEComas had known fusion partners as reported in renal cell carcinoma and PEComas ( NONO, PRCC, SFPQ , and PSPC1 ). The indeterminate tumors harbored ASPSCR1::TFE3 (n = 2) and U2AF2::TFE3 (n = 1) fusions, respectively. This large series devoted to TFE3-positive head and neck tumors illustrates the recently proposed morphologic overlap in the spectrum of TFE3 -associated mesenchymal neoplasms. While all PEComas were sinonasal, ASPS was never sinonasal and occurred in diverse head and neck sites with a predilection for the tongue. The indeterminate (PEComa-like) category is molecularly more akin to ASPS but shows different age, sex, and anatomic distribution compared with classic ASPS. We report VCP as a novel fusion partner in ASPS and PSPC1 as a novel TFE3 fusion partner in PEComa (detected in one PEComa). Future studies should shed light on the most appropriate terminological subtyping of these highly overlapping tumors.

• MeSH
• alveolární sarkom měkkých tkání * genetika   patologie   chemie   MeSH
• dítě MeSH
• dospělí MeSH
• fenotyp MeSH
• fúze genů MeSH
• genová přestavba * MeSH
• hybridizace in situ fluorescenční MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádorové biomarkery * genetika   analýza   MeSH
• nádory hlavy a krku * genetika   patologie   chemie   MeSH
• nádory z perivaskulárních epiteloidních buněk * genetika   patologie   chemie   MeSH
• předškolní dítě MeSH
• senioři MeSH
• transkripční faktory BHLH-Zip * genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery * MeSH
• TFE3 protein, human MeSH Prohlížeč
• transkripční faktory BHLH-Zip * MeSH

A solitary fibrous tumor (SFT) is a rare, NAB2-STAT6 fusion gene-associated mesenchymal neoplasm. It most commonly arises in the pleural site, but it can occur at many other sites, and rarely also in the head and neck (H&N) region. STFs may show many growth patterns and therefore can be easily mistaken for other more common H&N spindle cell or epithelial lesions. In this study, we present our experience in the diagnosis of 20 cases of SFT in the H&N region and discuss their most notable mimickers. In all cases, STAT6 expression was found positive by immunohistochemistry, and the NAB2-STAT6 fusion was confirmed by next-generation sequencing. Three major fusion variants were detected: NAB2ex2-STAT6int1 (5/20, 25%), NAB2ex6-STAT6ex16 (4/20, 20%), and NAB2ex4-STAT6ex2 (3/20, 15%). Clinical follow-up was available for 16 patients (median follow-up time: 84 months). One patient with a morphologically malignant SFT experienced multiple local recurrences, followed by dissemination into the lungs and meninges. This malignant SFT also displayed an aberrant FLI1 expression, which was not previously reported in SFT cases. We also summarize findings from 200 cases of SFT of the H&N region, which included cases from our study, and from previous studies that reported on the fusion status of the STAT6 gene. The results suggest that metastatic disease developed only in cases with STAT6 variants that included the DNA-binding domain (STAT6-full variants), which contradicts expectations from previous reports and deserves further investigation.

• Klíčová slova
• Head and neck, Hemangiopericytoma, NAB2-STAT6, Solitary fibrous tumor,
• MeSH
• dospělí MeSH
• fenotyp MeSH
• fúze genů * MeSH
• genetická predispozice k nemoci MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• mikrofilamentové proteiny genetika   MeSH
• mladiství MeSH
• nádorové biomarkery analýza   genetika   MeSH
• nádory hlavy a krku chemie   genetika   patologie   chirurgie   MeSH
• represorové proteiny genetika   MeSH
• senioři MeSH
• solitární fibrózní tumory chemie   genetika   sekundární   chirurgie   MeSH
• trans-aktivátory genetika   MeSH
• transkripční faktor STAT6 analýza   genetika   MeSH
• výsledek terapie MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• FLII protein, human MeSH Prohlížeč
• mikrofilamentové proteiny MeSH
• NAB2 protein, human MeSH Prohlížeč
• nádorové biomarkery MeSH
• represorové proteiny MeSH
• STAT6 protein, human MeSH Prohlížeč
• trans-aktivátory MeSH
• transkripční faktor STAT6 MeSH

The field of head and neck pathology was just developing 50 years ago but has certainly come a long way in a relatively short time. Thousands of developments in diagnostic criteria, tumor classification, malignancy staging, immunohistochemistry application, and molecular testing have been made during this time, with an exponential increase in literature on the topics over the past few decades: There were 3506 articles published on head and neck topics in the decade between 1969 and 1978 (PubMed source), with a staggering 89266 manuscripts published in the most recent decade. It is daunting and impossible to narrow the more than 162000 publications in this field and suggest only a few topics of significance. However, the breakthrough in this anatomic discipline has been achieved in 3 major sites: oropharyngeal carcinoma, salivary gland neoplasms, and sinonasal tract tumors. This review will highlight selected topics in these anatomic sites in which the most profound changes in diagnosis have occurred, focusing on the information that helps to guide daily routine practice of surgical pathology.

• Klíčová slova
• Head and neck, Immunohistochemistry, Molecular, Oropharyngeal, Paranasal sinus neoplasms, Pathology, Salivary gland neoplasms,
• MeSH
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• lidé MeSH
• nádorové biomarkery analýza   dějiny   MeSH
• nádory hlavy a krku chemie   dějiny   patologie   virologie   MeSH
• nádory orofaryngu chemie   dějiny   patologie   virologie   MeSH
• nádory slinných žláz chemie   dějiny   patologie   virologie   MeSH
• nádory vedlejších dutin nosních chemie   dějiny   patologie   virologie   MeSH
• Papillomaviridae izolace a purifikace   MeSH
• patologie dějiny   trendy   MeSH
• rozšiřování inovací MeSH
• staging nádorů MeSH
• Check Tag
• dějiny 20. století MeSH
• dějiny 21. století MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• historické články MeSH
• přehledy MeSH
• Názvy látek
• nádorové biomarkery MeSH

BACKGROUND/AIM: Head and neck squamous cell carcinoma (HNSCC) includes tumors of various anatomical sites sharing multifactorial etiopathogenesis and generally dismal response to conventional treatment. The objective of this study was to determine the clinical significance of serum levels of insulin-like growth factor-1 (IGF-1) and insulin-like growth factor-binding protein-3 (IGFBP-3) in HNSCC. PATIENTS AND METHODS: A total of 46 patients, with histologically-confirmed diagnosis of HNSCC (21 oropharyngeal, 21 laryngeal, and 4 hypopharyngeal cancers) were enrolled in this study. IGF-1 and IGFBP-3 serum levels were measured by an immunoradiometric assay using commercial kits. The adjustment of serum levels at 60 years of age was performed. RESULTS: Significant differences were found in IGF-1 serum concentrations between patients with p16 positive and p16 negative HNSCC (p=0.0062), with higher IGF-1 levels in p16 positive tumors, between low-grade and high-grade cancers (p=0.0323) only in larynx, with elevated IGF-1 concentrations associated with high-grade and between recurrent and non-recurrent HNSCC (p=0.0354), with lower IGF-1 levels in recurrent tumors. CONCLUSION: The conflicting results of this study may reflect some abnormality of IGF axis regulation in HNSCC, as well as the influence of other etiological factors (e.g. smoking, HPV infection).

• Klíčová slova
• Head and neck squamous cell carcinoma, IGF-1, IGFBP-3, p16, serum tumor marker,
• MeSH
• dlaždicobuněčné karcinomy hlavy a krku MeSH
• IGFBP-3 krev   MeSH
• imunohistochemie MeSH
• imunoradiometrická analýza MeSH
• inhibitor p16 cyklin-dependentní kinasy analýza   MeSH
• insulinu podobný růstový faktor I analýza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• nádorové biomarkery analýza   krev   MeSH
• nádory hlavy a krku krev   chemie   patologie   MeSH
• prediktivní hodnota testů MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• spinocelulární karcinom krev   chemie   patologie   MeSH
• stupeň nádoru MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Názvy látek
• CDKN2A protein, human MeSH Prohlížeč
• IGF1 protein, human MeSH Prohlížeč
• IGFBP-3 MeSH
• IGFBP3 protein, human MeSH Prohlížeč
• inhibitor p16 cyklin-dependentní kinasy MeSH
• insulinu podobný růstový faktor I MeSH
• nádorové biomarkery MeSH

Matrix-assisted laser desorption/ionization mass spectrometric imaging (MALDI MSI) is a well-established analytical technique for determining spatial localization of lipids in biological samples. The use of Fourier-transform ion cyclotron resonance (FT-ICR) mass spectrometers for the molecular imaging of endogenous compounds is gaining popularity, since the high mass accuracy and high mass resolving power enables accurate determination of exact masses and, consequently, a more confident identification of these molecules. The high mass resolution FT-ICR imaging datasets are typically large in size. In order to analyze them in an appropriate timeframe, the following approach has been employed: the FT-ICR imaging datasets were spatially segmented by clustering all spectra by their similarity. The resulted spatial segmentation maps were compared with the histologic annotation. This approach facilitates interpretation of the full datasets by providing spatial regions of interest. The application of this approach, which has originally been developed for MALDI-TOF MSI datasets, to the lipidomic analysis of head and neck tumor tissue revealed new insights into the metabolic organization of the carcinoma tissue.

• MeSH
• Fourierova analýza MeSH
• lidé MeSH
• lipidy analýza   chemie   MeSH
• molekulární zobrazování metody   MeSH
• nádory hlavy a krku chemie   MeSH
• počítačové zpracování obrazu MeSH
• spektrometrie hmotnostní - ionizace laserem za účasti matrice metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• lipidy MeSH

The authors report a case of cutaneous angiosarcoma, composed predominantly of cytologically bland foamy cells, mimicking cutaneous xanthoma, dermal clear cell mesenchymal neoplasm, or clear cell dermatofibroma. The tumor occurred on the forehead and scalp of an 86-year-old white man with no history of radiation exposure. The tumor cells were positive for CD31, CD34, D2-40, FLI-1, and ERG, and were negative for CD68 and CD163. Conventional vasoformative areas, with atypia and mitoses that led to the correct final diagnosis, were found only in 1 of the 2 performed biopsies. Foamy cell angiosarcoma is probably one of the least common variants of cutaneous angiosarcoma and represents an important diagnostic pitfall.

• MeSH
• biopsie MeSH
• diferenciální diagnóza MeSH
• hemangiosarkom chemie   patologie   MeSH
• imunohistochemie MeSH
• kožní nemoci metabolismus   patologie   MeSH
• lidé MeSH
• nádorové biomarkery analýza   MeSH
• nádory hlavy a krku chemie   patologie   MeSH
• nádory kůže chemie   patologie   MeSH
• prediktivní hodnota testů MeSH
• senioři nad 80 let MeSH
• skalp chemie   patologie   MeSH
• xantomatóza metabolismus   patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• nádorové biomarkery MeSH

Cancers of head and neck represents about 5% of all tumors. 80 to 90% of these tumors are constituted of squamous cell carcinomas. Despite a rapid progress in diagnostics and therapy the overall 5-year survival of this type of cancer is among the lowest of the major cancer types. This unfavourable situation needs the extensive research to found new markers to better characterize biological behavior of tumors as a rational background for more sophisticated therapeutic modalities. Among the most promising markers are endogenous lectins called galectins and their ligands. Especially galectin-1, -3 and -7 play a key role in pathology of squamous cell carcinomas.

• MeSH
• galektiny analýza   MeSH
• lidé MeSH
• nádorové biomarkery analýza   MeSH
• nádory hlavy a krku chemie   diagnóza   MeSH
• spinocelulární karcinom chemie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• galektiny MeSH
• nádorové biomarkery MeSH

Six cases of intranodal amianthoid myofibroblastomas are reported. Immunohistochemically the tumors were actin positive and S-100 protein and desmin negative. Intracytoplasmatic, actin-rich bodies, previously found to be a characteristic feature of this tumor, were identified as cytoplasmatic extensions filled with microfilaments at an ultrastructural level. Abortive vessel formation by the tumor cells and the proliferation of tumor cells centered on veins outside the capsule of the tumor in two of our cases indicated a close relationship between the intranodal palisaded myofibroblastoma and the musculature of vascular origin.

• MeSH
• elektronová mikroskopie MeSH
• imunohistochemie MeSH
• leiomyom chemie   patologie   ultrastruktura   MeSH
• lidé MeSH
• lymfatické uzliny patologie   MeSH
• nádory hlavy a krku chemie   patologie   ultrastruktura   MeSH
• nádory ze svalové tkáně chemie   patologie   ultrastruktura   MeSH
• třísla * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH