Otolaryngologia polska = The Polish otolaryngology最新文献

{"title":"Genetic mutations in recurrent and/or metastatic nasal carcinoma: A pathological comparison based on the Japanese national genomic profiling database.","authors":"Hiromi Nagano, Satoshi Kiyama, Kyutoku Takayuki, Hayato Matsumoto, Masaru Yamashita","doi":"10.5604/01.3001.0055.5235","DOIUrl":"10.5604/01.3001.0055.5235","url":null,"abstract":"<p><p>Comprehensive genome profiling (CGP) has been reimbursed under Japan's national health insurance since 2019 for patients with advanced solid tumors, including head and neck cancers. Despite this, genomic insights into rare nasal carcinoma subtypes remain limited, hindering subtype-specific therapeutic strategies. To characterize the genetic mutational profiles of recurrent and/or metastatic nasal carcinoma across histological subtypes using data from the Japanese National Genomic Profiling Database. Materials and methods: Genomic data from 135 patients with nasal carcinoma were analyzed, including squamous cell carcinoma (SCC) (n = 48), neuroendocrine tumor (NET) (n = 52), adenocarcinoma (n = 20), and undifferentiated carcinoma (n = 15). All cases were registered in the Center for Cancer Genomics and Advanced Therapeutics (C-CAT), National Cancer Center Japan, between June 2019 and May 2025. Mutations were identified via FoundationOne CDx next-generation sequencing. Survival analysis employed the log-rank test and Cox proportional hazards model. Results: TP53 and KMT2D were frequently mutated across all subtypes. In SCC, KMT2D (p = 0.03), EGFR (p = 6.4 × 10-), and RICTOR (p = 0.03) mutations correlated with poor prognosis. No significant differences were found among subtypes in mutation count or tumor mutational burden (TMB). Discussion: Shared and distinct mutational patterns were observed, with prognostic relevance in SCC. These findings underscore the importance of genomic stratification in rare nasal carcinomas. Conclusions: CGP reveals key genetic drivers in nasal carcinoma, supporting its role in precision oncology and informing future subtype-specific therapeutic approaches.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"80 2","pages":"31-38"},"PeriodicalIF":0.6,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147278029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epicutaneous sensitization in BALB/c mice induces stronger systemic Th2 inflammation than intranasal sensitization despite comparable nasal eosinophilia.","authors":"Hiromi Nagano, Takayuki Kyutoku, Hayato Matsumoto, Yumi Ando, Masaru Yamashita","doi":"10.5604/01.3001.0055.5830","DOIUrl":"10.5604/01.3001.0055.5830","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Epicutaneous sensitization (ES) plays a role in the onset of allergic diseases such as atopic dermatitis (AD), bronchial asthma, and food allergies, but its effects on nasal allergic diseases remain unclear. &lt;br&gt;&lt;br&gt;&lt;b&gt;Aim:&lt;/b&gt; The aim of this study was to compare the effects of intranasal challenge following ES with those following intranasal sensitization (NS) on nasal allergic inflammation. &lt;br&gt;&lt;br&gt;&lt;b&gt;Materials and methods:&lt;/b&gt; Female BALB/c mice were sensitized epicutaneously or intranasally with 25 μg of ovalbumin (OVA) and 2 μg of cholera toxin (CT) six times at weekly intervals. These groups were compared with control groups that received ES with phosphate- buffered saline (PBS) alone, OVA alone, or CT alone. Two weeks after the final sensitization, the mice were challenged intranasally with 500 μg of OVA ten times over a two-week period. Four weeks after the final sensitization, allergic inflammation in the nasal cavity, OVA-specific IgE production, and cytokine profiles were evaluated in the different groups. &lt;br&gt;&lt;br&gt;&lt;b&gt;Results:&lt;/b&gt; Post-challenge, there was no significant difference in the number of eosinophils or the thickness of lateral nasal mucosa between the ES and NS groups. However, the serum level of OVA-specific IgE in the ES group was significantly higher than that in the control and NS groups. Levels of IL-4, IL-5, IL-13, and IL-33 in CD4+ T cells were also significantly higher in the ES group than in the NS group. &lt;br&gt;&lt;br&gt;&lt;b&gt;Conclusions:&lt;/b&gt; These results indicate that intranasal challenge following ES induces comparable eosinophilic inflammation in the nasal cavity, but elicits a stronger systemic Th2-type inflammatory response than that following NS.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"80 1","pages":"24-31"},"PeriodicalIF":0.6,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146260662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of biofilm growth on voice prostheses using a tracheoesophageal fistula simulator.","authors":"Sławomir Okła, Jakub Spałek, Szczepan Kaliniak, Bonita Durnaś, Katarzyna Piotrowska, Sylwia Chmielewska-Deptuła, Paulina Paprocka, Monika Madej, Stanislaw Goźdź","doi":"10.5604/01.3001.0055.5236","DOIUrl":"10.5604/01.3001.0055.5236","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Voice prostheses (VPs) are devices that are widely used in voice rehabilitation of patients after laryngectomy. The main cause of VPs failure is their destruction by the growth of biofilm, mainly fungal. &lt;br&gt;&lt;br&gt;&lt;b&gt;Aim:&lt;/b&gt; The aim of this study was to design and build a tracheoesophageal fistula (TEF) simulator to observe and analyse the process of biofilm formation on voice prostheses and its effect on the structure of the material from which they are made, in conditions as close to real as possible. &lt;br&gt;&lt;br&gt;&lt;b&gt;Methods:&lt;/b&gt; Biofilm cultures were performed on voice prostheses under controlled in vitro conditions using a TEF simulator. Then, the crystal violet staining and confocal microscopic examination were performed. &lt;br&gt;&lt;br&gt;&lt;b&gt;Results:&lt;/b&gt; The analysis of voice prostheses cultured in the TEF simulator conditions confirmed the presence of biofilm on their surface. &lt;br&gt;&lt;br&gt;&lt;b&gt;Conclusions:&lt;/b&gt; The TEF simulator can be a valuable tool for future studies of silicone modifications that can limit the growth of biofilm on the VPs.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"80 1","pages":"10-16"},"PeriodicalIF":0.6,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive impact of the behavior of the Carhart&apos;s notch after stapedotomy on speech audiometry parameters.","authors":"Agnieszka Wiatr, Maciej Wiatr","doi":"10.5604/01.3001.0055.5226","DOIUrl":"10.5604/01.3001.0055.5226","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Stapedotomy improves air conduction thresholds and restores one of the components of bone conduction (BC): sound transmission to the inner ear via vibrations of the ossicular chain. This results in a measurable improvement in BC thresholds. Audiometric confirmation of pseudoperceptual hearing loss is the loss of the Carhart&apos;s notch (CN) observed after surgery. Sensorineural hearing loss is characterized by varying degrees of speech incomprehension impairment, particularly clinically apparent when the impairment affects frequencies essential for communication. &lt;br&gt;&lt;br&gt;&lt;b&gt;Aim:&lt;/b&gt; The aim of the study was to analyze the influence of the occurrence and behavior of the CN on selected speech audiometry parameters after stapedotomy in patients with otosclerosis. &lt;br&gt;&lt;br&gt;&lt;b&gt;Materials and methods:&lt;/b&gt; A retrospective analysis of 116 patients undergoing otosclerosis surgery between 2016 and 2019 was conducted. Patients were divided into groups based on the presence of a CN in the operated ear, based on pure-tone audiometry (PTA) performed preoperatively and during postoperative follow-up after 2-3 years of stapedotomy. Speech audiometry analysis considered changes in speech detection threshold (SDT), speech reception threshold (SRT), and speech discrimination threshold. &lt;br&gt;&lt;br&gt;&lt;b&gt;Results:&lt;/b&gt; In the group of patients who did not have a CN on PTA preoperatively, improving mean BC threshold values after stapedotomy had a beneficial effect on SDT improvement. This association was not confirmed when assessing the effect of mean BC values on SRT. More profound sensorineural hearing loss in the preoperative assessment was associated with poorer SDT, SRT, and speech discrimination threshold in the absence of a CN on PTA. In the group of patients who had a CN on PTA preoperatively, a strong correlation was found between CN disappearance and improvement in SDT and SRT after surgery. A persistent CN after surgery proved to be an unfavorable prognostic factor for improvement in speech audiometry parameters. &lt;br&gt;&lt;br&gt;&lt;b&gt;Conclusions:&lt;/b&gt; 1. The disappearance of the preoperatively observed CN after stapedotomy is a significant prognostic factor for improving the SDT and speech reception threshold; 2. A CN persisting after surgical treatment is an unfavorable factor in improving speech audiometry parameters; 3. Profound sensorineural hearing loss in the absence of the CN in the preoperative assessment is an unfavorable factor in improving the SRT, SDT and speech discrimination threshold; 4. Improvement of mean BC threshold values after stapedotomy, regardless of the preservation of the CN, has a beneficial effect on the improvement of SDT but not on SRT (the study showed that the improvement of SRT correlates with CN disappearing).</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"80 1","pages":"32-40"},"PeriodicalIF":0.6,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Steroid-eluting stents in chronic rhinosinusitis: a systematic review.","authors":"Wiktor Miechowski, Katarzyna Czerwaty, Karolina Dzaman","doi":"10.5604/01.3001.0055.4790","DOIUrl":"10.5604/01.3001.0055.4790","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; In recent years, new treatments for chronic rhinosinusitis (CRS) have been sought, among which steroid-eluting implants (SEIs) are one of the most effective. &lt;br&gt;&lt;br&gt;&lt;b&gt;Aim:&lt;/b&gt; The aim of the systematic review was to collect available studies on the use of SEIs in CRS. &lt;br&gt;&lt;br&gt;&lt;b&gt;Materials and methods:&lt;/b&gt; A systematic review according to PRISMA (4 databases: PubMed/MEDLINE, Scopus, Web of Science, and Cochrane Library) as of March 17, 2025, including full-text original papers in English. Risk of bias was assessed using the Cochrane and JBI critical appraisal. &lt;br&gt;&lt;br&gt;&lt;b&gt;Results:&lt;/b&gt; In total, 347 articles were identified, 26 of which met the inclusion criteria for the analysis, covering a population of 9311 patients. Most investigators confirmed the efficacy of SEIs in improving SNOT, endoscopic nasal assessment, reducing polyps, and reducing postoperative adhesions, and a non-significant role in lateralization of the middle turbinate. SEIs reduced the need for oral steroids and the risk of sinus reoperation comparably to intranasal steroids. Side effects of SEI therapy were mild and included parosmia, nose bleeding, headache, and nasal pain, sinusitis, discomfort, and local swelling in the nose. &lt;br&gt;&lt;br&gt;&lt;b&gt;Conclusions:&lt;/b&gt; SEIs are effective and safe, but prospective cohort studies with long postoperative follow-up are desirable.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"80 1","pages":"1-9"},"PeriodicalIF":0.6,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Cryoablation on Rhinomanometric Parameters in Vasomotor Rhinitis Patients.","authors":"Hanna Zielińska-Bliźniewska, Jarosław Miłoński, Anna Merecz-Sadowska, Katarzyna Malinowska","doi":"10.5604/01.3001.0055.4419","DOIUrl":"10.5604/01.3001.0055.4419","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Vasomotor rhinitis is a prevalent non-allergic condition. Cryoablation has emerged as a promising minimally invasive treatment targeting posterior nasal nerves to modulate autonomic contribution to rhinitis symptoms.&lt;b&gt;Aim:&lt;/b&gt; To evaluate cryoablation efficacy in vasomotor rhinitis through objective rhinomanometric assessment and subjective visual analogue scale evaluation, and identify treatment success predictors.&lt;b&gt;Materials and methods:&lt;/b&gt; This retrospective study included 102 patients (63 males, 39 females; mean age 41.54 12.97 years) with vasomotor rhinitis who underwent cryoablation. Rhinomanometric measurements and obstruction scores (0-10 scale) were assessed pre-treatment and one month post-procedure. Treatment success was defined as ≥30% improvement in mean nasal airflow.&lt;b&gt;Results:&lt;/b&gt; All nasal airflow parameters improved significantly (p &lt; 0.001). The right nasal cavity showed increases of 36.02% 21.88% (inspiratory) and 31.37% 20.02% (expiratory); the left cavity improved by 25.86% 16.27% (inspiratory) and 23.97% 18.63% (expiratory). Effect sizes were large (Cohen&apos;s d: 1.84-2.67). Obstruction scores decreased from 7.52 0.82 to 1.97 0.41 (73.81% reduction, p &lt; 0.001). Treatment success was achieved in 40.6% of patients. Baseline nasal airflow was the strongest predictor (R = 0.705, p &lt; 0.001), with severe baseline symptoms (&lt;300 ml/s) predicting greater improvement (β = 11.55, p = 0.027).&lt;b&gt;Conclusions:&lt;/b&gt; Cryoablation significantly improves objective and subjective outcomes in vasomotor rhinitis. Patients with severe baseline symptoms achieve superior results, supporting cryoablation as an effective treatment option for appropriately selected patients.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"79 6","pages":"15-20"},"PeriodicalIF":0.6,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-specific Orbital Inflammation of Sinonasal Origin.","authors":"Andrzej Sieśkiewicz, Eliza Brożek-Mądry, Grażyna Lisowska, Ewa Sierko, Joanna Reszeć, Tomasz Łysoń","doi":"10.5604/01.3001.0055.4692","DOIUrl":"10.5604/01.3001.0055.4692","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Non-specific orbital inflammation (NSOI), or orbital pseudotumor, is the third most common orbital disease, yet its pathogenesis remains poorly understood. A dysregulated immune response to infections or trauma, including surgery, has been proposed as a contributing factor. However, reports of NSOI coexisting with sinusitis are scarce and mostly limited to isolated case reports.&lt;b&gt;Aim:&lt;/b&gt; This study examines a subset of NSOI patients with coexisting chronic rhinosinusitis with nasal polyps (CRSwNP), aiming to explore potential pathophysiological links and evaluate treatment outcomes.&lt;b&gt;Materials and methods:&lt;/b&gt; Between 2014 and 2024, 34 patients with NSOI were assessed at the Medical University of Bialystok. In 7 cases (20%), NSOI was associated with CRSwNP. Diagnosis was confirmed through orbital tissue biopsy and exclusion of systemic diseases.&lt;b&gt;Results:&lt;/b&gt; Orbital symptoms - diplopia, proptosis, and pain - developed after sinonasal symptoms and surgical intervention in all cases. Early bacteriological cultures showed various pathogens, but intraoperative cultures during remission were sterile. Tissue or blood eosinophilia, along with recurrent exacerbations and signs of bacterial infection, suggested a mixed type 2/type 3 inflammatory endotype. Imaging revealed orbital wall defects with new bone formation (osteogenesis), and histopathology showed marked fibrosis. Treatment with corticosteroids led to partial stabilization in four patients; two required immunosuppressants and two underwent radiotherapy. None achieved complete remission.&lt;b&gt;Conclusions:&lt;/b&gt; These findings suggest that chronic rhinosinusitis may trigger or worsen NSOI in susceptible individuals, particularly those with underlying immune dysregulation. Standard treatments are often ineffective in advanced fibrotic stages, highlighting the need for tailored, multidisciplinary approaches and further research into the underlying mechanisms.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"79 6","pages":"35-41"},"PeriodicalIF":0.6,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laryngopharyngeal reflux: a diagnostic and therapeutic challenge for the otolaryngologist and gastroenterologist.","authors":"Wioletta Pietruszewska, Maria Janiak, Magdalena M Pietrzak","doi":"10.5604/01.3001.0055.5225","DOIUrl":"10.5604/01.3001.0055.5225","url":null,"abstract":"<p><p>Laryngopharyngeal reflux disease (LPRD) is an entity separate from GERD in which the refluxate (acid, pepsin, bile salts, etc.) crosses the upper esophageal sphincter and irritates the particularly sensitive pharyngeal and laryngeal mucosa, resulting in symptoms such as hoarseness, coughing, and grunting, frequently without the typical heartburn or esophageal erosions. The diagnosis cannot rely solely on the laryngoscopic appearance or the RSI/RFS scales (Reflux Symptom Index/Reflux Finding Score). The reference standard is hypopharyngeal-esophageal multichannel intraluminal impedance with pH monitoring (HEMII-pH), which documents the extent of reflux (acidic, non-acidic, gaseous) reaching the pharynx and allows for LPRD phenotyping and treatment selection. Gastroscopy is reserved mainly for alarm symptoms and complications of GERD. The treatment should be personalized and multidirectional, including lifestyle and diet modification as well as pharmacotherapy targeting the type of reflux. In weak acid/non-acid reflux, an important part is played by alginates (exerting mechanical action within the stomach to reduce postprandial and nocturnal reflux) and topical barrier preparations with hyaluronic acid that form a bioadhesive protective film on the mucosa and promote its regeneration. Prokinetic agents should be considered, especially in patients with motility disorders or distal reflux. Proton pump inhibitors should be used selectively, mainly with documented acid exposure or concomitant typical GERD symptoms. Effective care requires collaboration between an otolaryngologist and a gastroenterologist, with diagnostic and therapeutic decisions being based on the phenotype of reflux as well as the patient's preferences. This personalized approach reduces the risk of over-suppression of gastric acid and increases the clinical response rate.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"79 6","pages":"42-54"},"PeriodicalIF":0.6,"publicationDate":"2025-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Anatomical Subsite on Achieved Surgical Margins in Head and Neck Basal Cell Carcinoma.","authors":"Jakub Nicer, Joanna Kania, Maria Sobol, Dariusz Jurkiewicz, Piotr Rot","doi":"10.5604/01.3001.0055.4389","DOIUrl":"10.5604/01.3001.0055.4389","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Basal cell carcinoma (BCC) most commonly affects the sun-exposed head and neck skin, where oncologic clearance must be balanced against functional and cosmetic outcomes. Whether anatomical subsite independently influences achieved histopathological margins is clinically relevant for ENT practice.&lt;b&gt;Aim:&lt;/b&gt; To assess the association between tumor location and achieved surgical margins (minimum lateral and deep) in head and neck BCC, and to identify subsites most prone to narrow/positive margins and adverse histopathological features.&lt;b&gt;Materials and methods:&lt;/b&gt; Retrospective single-centre study of surgically excised head and neck BCCs treated at the Military Medical Institute (Warsaw) between 2018 and 2021. Variables included minimum lateral/deep margins, maximum tumor dimension, depth of invasion, ulceration, perineural invasion, inflammatory response, Demodex, post-solar hyperplasia, and coexisting lesions (Bowen's disease, SCC, melanoma). Subsites: forehead, nose, periorbital, perioral, scalp, temporal, periauricular. Kruskal-Wallis and χ/Fisher's exact tests were used (α = 0.05).&lt;b&gt;Results:&lt;/b&gt; Location significantly influenced margins and histopathology. Periorbital lesions had the largest median deep margins, whereas the nose had the smallest ones. Forehead tumors achieved the widest lateral margins, while periorbital/perioral subsites the narrowest ones. Perioral lesions showed the greatest depth of invasion; the temporal region the smallest one. Scalp tumors presented with the largest maximum dimension. Nasal lesions most frequently exhibited perineural invasion and ulceration. Demodex was most common on the nose; coexisting Bowen's disease and melanoma also clustered nasally, while SCC clustered periauricularly.&lt;b&gt;Discussion:&lt;/b&gt; Findings reflect local anatomy and organ-preserving constraints in central facial subsites and support location-tailored surgical planning.&lt;b&gt;Conclusions:&lt;/b&gt; Anatomical subsite is a key determinant of achievable margins and adverse features in head and neck BCC, arguing for subsite-adapted strategies and audits of guideline adherence by location.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"79 6","pages":"21-28"},"PeriodicalIF":0.6,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic mutations in recurrent and/or metastatic squamous cell carcinoma of unknown primary - an analysis of the Japanese national genomic profiling database.","authors":"Hiromi Nagano, Satoshi Kiyama, Takayuki Kyutoku, Hayato Matsumoto, Masaru Yamashita","doi":"10.5604/01.3001.0055.3303","DOIUrl":"10.5604/01.3001.0055.3303","url":null,"abstract":"<p><p>&lt;b&gt;Introduction:&lt;/b&gt; Although genetic mutations have been reported in squamous cell carcinoma of unknown primary (SCCUP), no scientifically validated targeted therapies are currently available. Moreover, cancer genomic profiling tests remain underutilized in clinical practice. These issues highlight the urgent need to elucidate the genomic landscape of SCCUP and its potential therapeutic relevance.&lt;b&gt;Aim:&lt;/b&gt; This study aimed to characterize the mutational profile of recurrent and/or metastatic SCCUP.&lt;b&gt;Materials and methods:&lt;/b&gt; Data were analyzed for 170 consecutive patients with SCCUP registered at the Japan National Cancer Center, Center for Cancer Genomics and Advanced Therapeutics (C-CAT) between June 2019 and August 2025. Genetic mutations were determined by next-generation sequencing. The survival of patients was determined by the log-rank test and a Cox proportional hazards model.&lt;b&gt;Results:&lt;/b&gt; The top 10 mutations in SCCUP were &lt;i&gt;TP53&lt;/i&gt; (57.6%), &lt;i&gt;CDKN2A&lt;/i&gt; (37.0%), &lt;i&gt;PIK3CA&lt;/i&gt; (32.9%), &lt;i&gt;KMT2D&lt;/i&gt; (27.6%), &lt;i&gt;CDKN2B&lt;/i&gt; (20.6%), &lt;i&gt;NOTCH3&lt;/i&gt; (20.6%), &lt;i&gt;BRAC2&lt;/i&gt; (20.0%), &lt;i&gt;PTEN&lt;/i&gt; (16.5%), &lt;i&gt;NOTCH1&lt;/i&gt; (15.9%), and &lt;i&gt;RICTOR&lt;/i&gt; (15.9%), with 20.2 10.1 (mean SEM) mutations/ individual. Mutation in &lt;i&gt;BRCA2&lt;/i&gt; (p = 0.0347) was associated with a significantly worse prognosis, as determined by the log-rank test. The hazard ratios for cases with this mutation was 2.3450 (95% CI, 1.2220-4.499, p = 0.01037) for &lt;i&gt;BRCA2&lt;/i&gt;.&lt;b&gt;Conclusions:&lt;/b&gt; This study delineated the mutational spectrum of recurrent and/or metastatic SCCUP. Even in advanced disease, prognostically relevant mutations were identified, emphasizing the clinical importance of cancer genomic profiling tests.</p>","PeriodicalId":520738,"journal":{"name":"Otolaryngologia polska = The Polish otolaryngology","volume":"79 6","pages":"29-34"},"PeriodicalIF":0.6,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}