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1.
Front Neurol ; 15: 1437027, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39268066

RESUMEN

Paragangliomas are rare tumors originating from the paraventricular bodies of the autonomic nervous system located in the adrenal glands, chest, abdomen, pelvis and head and neck. Tumors of this type account for 0.5% of head and neck cancers, 0.03% of all cancers and their incidence is estimated at 1-30/100,000 per year. Head and Neck Paragangliomas (HNPGL) are localized in carotid body, tympanic cavity or jugular foramen. It is established that HNPGL may be associated with mutations of the SDH complex, with SDHD being the most prevalent. However, SDHB, SDHC and SDHAF are also potential causes. The aforementioned mutations are influenced by various risk factors, including young age, a positive family history of paraganglioma, the presence of metastases and gender The purpose of this study is to summarize the results of genetic testing performed on patients with head and neck paraganglioma and to create an up-to-date genetic diagnosis algorithm for patients with HNPGL based on previous studies published in the literature that can be used in daily practice. Several papers observed that among SDHD mutation carriers, most or all of those studied had HNPGL, and SDHB mutations were more frequently found in the presence of metastasis. Based on the results, it was concluded that there is no basis for genetic testing for VHL in patients without a positive family history. In each algorithm proposed by different authors, proposals for rational genetic diagnosis were analyzed based on the studies cited by the author and the analyses included in our paper. For the analysis of the treatment algorithms, the following were included: Martin, Mannelli, Neumann, Gupta. Subsequently, publications related to the genetic diagnosis of HNPGL were analyzed to verify the proposed algorithms in light of the latest genetic studies and to establish an updated diagnostic management scheme.

2.
Otolaryngol Pol ; 78(4): 29-38, 2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39051644

RESUMEN

<b>Introduction:</b> More than 5% of the world's population experience hearing impairment. The most common form is presbycusis (age-related hearing loss; ARHL). It affects almost one in three people over the age of 65. The hair cells of the cochlea play an important role in the process of sound registration. Genetic mutations, aging and environmental factors can cause damage that contributes to the hearing loss.<b>Methods and results:</b> The currently explored research directions include drug treatments, gene therapies, and stem cell therapies. To date, no significant differences in the therapeutic effect depending on the route of corticosteroid administration have been demonstrated in patients with moderate to severe hearing loss. New dexamethasone-containing hydrogel formulations, as well as lipid formulations, thermosensitive polymers, and nanoparticles, have been developed to achieve high drug concentrations in the inner ear structures. Otoprotective effects of antioxidants or substances that modify the toxic effects of e.g. cisplatin, are also being studied. Attempts at auditory cells' regeneration seem promising in hearing loss research. Substances that regulate the central mechanisms of the Notch and Wnt pathways are being explored to this end. The genetic determinants of presbycusis suggest that interference at the level of specific genes may be a promising option for the treatment of this condition. With the CRISPR/Cas9 technology, the functions of inner ear genes can be effectively studied by disrupting normal gene alleles. The CRISPR/Cas9 complexes developed to target specific genes are delivered using cationic lipids, proteins, and viral vectors. They are then transported through the round window membrane by diffusion, without the need to surgically disrupt the inner ear. The potential of using antisense oligonucleotides to treat hereditary deafness caused by hair cell degeneration has also been established. Another research direction is related to stem cells being used for the development of in vitro 3D models of the human inner ear. Studies are also pursued to identify the mechanisms underlying the formation of cochlear organoids from pluripotent cells as well as determine the critical time points and events for cochlear sensory epithelial development and targeted hair cell differentiation.<b>Conclusions:</b> In summary, significant progress has been made over the past decade in the search for novel therapies for sensory hearing loss. This line of research remains an ambitious and important area for further exploration.


Asunto(s)
Terapia Genética , Humanos , Presbiacusia/terapia , Pérdida Auditiva Sensorineural/terapia , Trasplante de Células Madre , Anciano
3.
Head Neck ; 46(9): 2116-2122, 2024 09.
Artículo en Inglés | MEDLINE | ID: mdl-38864228

RESUMEN

BACKGROUND: Tracheoesophageal speech is one of the most effective method used for voice rehabilitation after laryngectomy. The main limitation is the need for periodic voice prothesis (VP) replacements. The process of developing VP usage complications is still unexplored. The aim of this study was to assess the level of cytokines (IL-1ß, IL-6, IL-8, IL-10, TNFα) and pepsin in saliva as potential factors reducing VP longevity. METHODS: Prospective double-blind randomized clinical trial was conducted (NCT04268459). Patients were randomly divided into two groups depending on VP replacement regimen (regular-every 3 months, or irregular-when complications occur). Levels of IL-1ß, IL-6, IL-8, IL-10, TNFα, and pepsin in saliva samples (fasting and after eating) of laryngectomized patients were measured using ELISA tests. RESULTS: Fifty-two patients (26 in both groups) with control group (7 patients) participated in the study. The level of IL-1ß, IL-6, IL-8, IL-10, TNFα, and pepsin did not differ according to regularity of VP replacements (p = 0.301-0.801). IL-6 levels were significantly higher when VP complications occurs (p = 0.012). CONCLUSIONS: The saliva components were not significantly different depending on the frequency of VP replacements. IL-6 plays an important role in the development of VP use complications.


Asunto(s)
Citocinas , Laringectomía , Laringe Artificial , Pepsina A , Saliva , Humanos , Saliva/química , Saliva/metabolismo , Método Doble Ciego , Masculino , Femenino , Persona de Mediana Edad , Pepsina A/metabolismo , Anciano , Citocinas/metabolismo , Estudios Prospectivos
4.
Eur Arch Otorhinolaryngol ; 281(8): 4305-4313, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38649542

RESUMEN

BACKGROUND: The preoperative diagnosis of salivary gland cancer (SGC) is crucial for the application of appropriate treatment, particularly involving the extension of the resection. METHODS: Retrospective search of medical database identified 116 patients treated surgically with malignant tumors of salivary gland between 2010 and 2020. Analysis included the demographical data, clinical course, type of surgical and adjuvant treatment, histology type and margin status, perivascular invasion (LVI), perineural invasion (PNI), metastatic lymph nodes (LN). Facial nerve function, recurrence-free and overall survival were evaluated. Adequate statistics were used for data analysis. RESULTS: The final cohort included 63 SGC patients, with adenoid cystic carcinoma the most common pathological type (27%, n = 17), followed by adenocarcinoma (17.4% n = 11). T1 and T2 patients accounted for majority cases (n = 46). The lymph node metastases were confirmed with the histopathology in 31.7% (n = 20). Distant metastases were observed in 4.8% of cases (n = 3). 38% (n = 24) of SGC were treated selectively with surgery, 49.2% (n = 31) had postoperative radiotherapy and 15.9% (n = 10)-radio-chemotherapy. The final facial nerve function was impaired in 38% of patients. Mean overall survival (OS) for all patients was 108.7 (± 132.1) months, and was the most favorable for acinar cell carcinoma (118.9 ± 45.4) and the poorest for squamous cell carcinoma (44 ± 32). Cox regression analysis of disease-free survival and OS identified significant association only with patients' age over 65 years, the hazard ratio of 7.955 and 6.486, respectively. CONCLUSIONS: The efficacy of treatment modalities for SGC should be verified with regard to the histopathological type, but also the patients' age should be taken into account.


Asunto(s)
Neoplasias de las Glándulas Salivales , Humanos , Masculino , Neoplasias de las Glándulas Salivales/terapia , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/mortalidad , Femenino , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Adulto , Carcinoma Adenoide Quístico/terapia , Carcinoma Adenoide Quístico/patología , Carcinoma Adenoide Quístico/mortalidad , Adenocarcinoma/terapia , Adenocarcinoma/patología , Adenocarcinoma/mortalidad , Metástasis Linfática , Anciano de 80 o más Años , Adulto Joven , Estadificación de Neoplasias , Tasa de Supervivencia , Resultado del Tratamiento
5.
Otolaryngol Pol ; 77(5): 14-22, 2023 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-38032331

RESUMEN

<br><b<Aim:</b> The aim of this study was to evaluate the relevance and reliability of the (I)INFVo scale - a clinical tool for the perceptual assessment of substitutional voice in patients after total laryngectomy. The process involved translating the scale into Polish and verifying the relevance and reliability of the tool in 33 native Polish-speaking patients using tracheo-esophageal or esophageal substitutional voice.</br> <br><b>Methods:</b> Voice recordings were rated using the perceptual-auditory (I)INFVo scale by two experts with 10 years of experience in phoniatrics and speech therapy and a clinical speech therapy graduate. One of the specialists listened to and assessed the voice recordings twice at a one-week interval. Objective measures - speech rate, diadochokinesis (DDK), and maximum phonation time (MPT) were calculated from the aforementioned recordings. The results of the Polish version of Voice Handicap Index (VHI-POL) self-assessment questionnaire including three subscales (functional, physical, and emotional) as obtained from the medical records of the study subjects were also used in the analysis. All values obtained in the study were submitted to correlation analysis.</br> <br><b>Results:</b> Very strong statistical relationships were obtained for inter- and intra-rater reliability. A statistically significant correlation was found between the parameters of the (I)INFVo scale and the objective measures (speech rate, DDK, MPT), the total VHI-POL scores, and the scores within the physical and functional subscales of the VHI-POL questionnaire, confirming the reliability of ratings provided by the experts using the validated scale.</br> <br><b<Conclusion:</b> The perceptual (I)INFVo scale appears to be a reliable and adequate tool for the diagnostics of patients using tracheo-esophageal and esophageal substitutional voice after total laryngectomy.</br>.


Asunto(s)
Laringectomía , Voz , Humanos , Polonia , Reproducibilidad de los Resultados , Examen Físico
6.
PeerJ ; 11: e15642, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37744219

RESUMEN

Backgrounds: This study explored the contribution of peripheral blood markers in diagnosis and prognosis estimation of different stages of laryngeal dysplasia and early glottic cancer. Methods: Retrospective analysis of clinical, histopathological and laboratory data of 220 patients including hemoglobin, neutrophil, lymphocyte, monocyte and platelet counts, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR). Results: The mean hemoglobin level and platelets count showed differences between histopathological stages of lesions (p = 0.041 and 0.046, respectively). In patients with recurrent lesions mean level of lymphocyte count, NLR and PLR were significant in assessing progression and cancerization (p = 0.005, 0.028 and 0.023, respectively). The univariate analysis recognized level of PLR ≥ 141.74 as significant risk factor of the recurrence of vocal fold hypertrophic lesions (OR = 1.963). Conclusions: The levels of blood cells and their ratios seem to be effective in predicting the recurrence of lesion and even more their potential role in indicating malignant progression.


Asunto(s)
Plaquetas , Neutrófilos , Humanos , Estudios Retrospectivos , Pliegues Vocales , Linfocitos , Recuento de Linfocitos
7.
Laryngoscope Investig Otolaryngol ; 8(4): 799-807, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37621288

RESUMEN

Background: The comprehensive counseling of patients with olfactory dysfunctions requires accurate diagnosis. The recommendations include subjective assessment. The Questionnaire of Olfactory Disorders (QOD) is a disease-specific questionnaire for the subjective evaluation of olfactory dysfunctions. Material: The study included 54 patients with olfactory dysfunctions, who were recruited to the study group (SG). The other 47 patients without the history of olfactory dysfunction and nasal cavity pathology were voluntarily allocated to the control group (CG). The protocol of the study was introduced to each patient and included: olfactory testing with Sniffin' Stick test, fulfillment of the Polish version of World Health Organization Quality of Life brief questionnaire and completing of the Polish version of the QOD. All participants (101) were invited for refilling the QOD questionnaire after 2 weeks for the test-retest statistics. Results: The Polish QOD statements were significantly correlated and met the requirement by having test-retest correlation larger than 0.7. We found that internal consistency of the test measured by Cronbach's alpha coefficient was very high. The mean scores of the QOD test in normosmic SG patients were compared with corresponding scores in normosmic CG patients using U Mann-Whitney test. The analysis revealed statistically significant differences on mean QOD scores for each domains except QOD-S between both groups. Conclusions: The Polish version of the QOD demonstrated high rate of the validity and the reliability. This instrument may be widely used in research projects and clinical practice concerning olfactory disorders in Polish patients. Level of Evidence: NA.

8.
Eur Arch Otorhinolaryngol ; 280(11): 4739-4750, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37439929

RESUMEN

PURPOSE: The correct classification of salivary gland pathologies is crucial for choosing a treatment method and determining the prognosis. Better outcomes are now achievable thanks to the introduction of new therapy approaches, such as targeted therapies for malignant salivary gland tumors. To apply these in clinical routine, a clear classification of the lesions is required. METHODS: The following review examines all changes from the first World Health Organization (WHO) Classification of salivary gland pathologies from 1972 to fifth edition from 2022. Possible developments in the diagnosis and classification of salivary gland pathology are also presented. RESULTS: The current WHO classification is the fifth edition. With the development of new diagnostic methods, based on genetic alterations, it provides insight into the molecular basis of lesions. This has resulted in the evolution of classification, introduction of new entities and reclassification of existing ones. CONCLUSIONS: Genetic alterations will become increasingly more significant in the identification of salivary gland pathologies in the future. These alterations will be helpful as prognostic and predictive biomarkers, and may also serve as targets for anti-cancer therapies.


Asunto(s)
Neoplasias de las Glándulas Salivales , Glándulas Salivales , Humanos , Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Pronóstico , Mutación , Organización Mundial de la Salud
9.
Braz. j. otorhinolaryngol. (Impr.) ; 89(3): 417-424, May-June 2023. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1447695

RESUMEN

Abstract Objectives The aim of the study was to investigate clinical significance of soluble PD-L1 (sPD-L1) serum level in head and neck cancer and to evaluate its role as a possible prognostic and predictive biomarker. Methods A prospective analysis of sPD-L1 levels in 60 patients diagnosed and treated due to malignant and non-malignant lesions in the region of head and neck was performed in peripheral blood by an ELISA test. Results The range of sPD-L1 in the study group was 0.16-1.63 ng/mL, mean 0.64 ± 0.32. There were no differences in the mean sPD-L1 regarding patients' age, sex, and the localization of the lesion. Statistically significant difference was revealed in the average sPD-L1 level (p = 0.006) depending on the histopathological advancement of the lesions, 0.704 ± 0.349 and 0.512 ± 0.177 respectively in the malignant and benign group. The separate analysis of laryngeal lesions confirmed statistical difference in sPD-L1 (p = 0.002) for the malignant lesions (0.741 ± 0.353) compared with the benign (0.489 ± 0.175). The sPD-L1 level of 0.765 ng/mL or higher, revealed 35% sensitivity and 95.5% specificity for the diagnosis of head and neck malignant lesions (AUC = 0.664, 95% CI 0.529‒0.8, p-value = 0.039). The 1-year DFS was 83.3% in the group of patients with low sPD-L1 levels (< 0.765 ng/mL) and 53.8% in patients with high sPD-L1 (≥0.765 ng/mL). The 2-year OS were 68% and 69.2% respectively in both groups. The log-rank test confirmed statistically significant prognostic value of sPD-L1 level for 1-year DFS (p-value = 0.035). Conclusions sPD-L1 is a promising prognostic and early recurrence predictive biomarker for head and neck cancers, most significantly for laryngeal lesions. Level of evidence 3.

10.
Braz J Otorhinolaryngol ; 89(3): 417-424, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36868994

RESUMEN

OBJECTIVES: The aim of the study was to investigate clinical significance of soluble PD-L1 (sPD-L1) serum level in head and neck cancer and to evaluate its role as a possible prognostic and predictive biomarker. METHODS: A prospective analysis of sPD-L1 levels in 60 patients diagnosed and treated due to malignant and non-malignant lesions in the region of head and neck was performed in peripheral blood by an ELISA test. RESULTS: The range of sPD-L1 in the study group was 0.16-1.63ng/mL, mean 0.64±0.32. There were no differences in the mean sPD-L1 regarding patients' age, sex, and the localization of the lesion. Statistically significant difference was revealed in the average sPD-L1 level (p= 0.006) depending on the histopathological advancement of the lesions, 0.704 ± 0.349 and 0.512 ± 0.177 respectively in the malignant and benign group. The separate analysis of laryngeal lesions confirmed statistical difference in sPD-L1 (p= 0.002) for the malignant lesions (0.741 ± 0.353) compared with the benign (0.489 ± 0.175). The sPD-L1 level of 0.765 ng/mL or higher, revealed 35% sensitivity and 95.5% specificity for the diagnosis of head and neck malignant lesions (AUC=0.664, 95% CI 0.529‒0.8, p-value=0.039). The 1-year DFS was 83.3% in the group of patients with low sPD-L1 levels (< 0.765ng/mL) and 53.8% in patients with high sPD-L1 (≥0.765ng/mL). The 2-year OS were 68% and 69.2% respectively in both groups. The log-rank test confirmed statistically significant prognostic value of sPD-L1 level for 1-year DFS (p-value=0.035). CONCLUSIONS: sPD-L1 is a promising prognostic and early recurrence predictive biomarker for head and neck cancers, most significantly for laryngeal lesions.


Asunto(s)
Antígeno B7-H1 , Neoplasias de Cabeza y Cuello , Humanos , Pronóstico , Biomarcadores de Tumor
11.
Contemp Oncol (Pozn) ; 27(3): 211-216, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38239864

RESUMEN

Introduction: Salivary gland tumours are rare neoplasms. Pleomorphic adenoma (PA) is the most frequent benign lesion. Myoepithelial carcinoma (MECA) is rarely recognized malignancy, but the prognosis is unfavourable. The aim of this study was to identify genetic rearrangements that might be responsible for dynamic MECA progression in patients with primary radical PA excision. Material and methods: Next-generation sequencing (NGS) of 1500 gene coding sequences was performed in primary and recurrent tumour tissue collected from 2 patients, in whom PA was initially diagnosed and within one year multifocal MECA was detected. Formalin-fixed paraffin-embedded blocks with tumour tissues were subject to NGS analysis, involving small-scale mutations, as well as focal and chromosomal arm-level copy number changes. Results: This study showed mutations in the FGFR2 gene in PA and MECA tissues, obtained from both patients. One of them, pathogenic mutation p.Pro253Arg, was associated with sensitivity to registered drug inhibitors. Additionally, FGFR1, EGFR, and CDK4/CDK6 amplification, as well as CDKN2A/B deletion, were detected in one case. Furthermore, mutations in suppressor gene APC2 and PIK3C2A were detected, but only in MECA tissue. The analysis also identified the following chromosomal copy alterations: 4q12-q13.3, 9p21.3, 5q23.1-q34, del8p23.3-p12, and del13q21.31-q31.1. Conclusions: Rearrangement of the FGFR2 gene, identified in primary PA and MECA ex PA samples of both our patients, may be responsible for the malignant transformation and the disease progression. Further studies are encouraged to confirm the relevance of the findings. The therapy option with FGFR2 inhibitors may be considered in advanced or metastatic MECA ex PA with confirmed FGFR2 mutations.

12.
Otolaryngol Pol ; 76(4): 1-5, 2022 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-36047327

RESUMEN

PURPOSE: The review of indications for surgical treatment of major salivary glands in adults hospitalized in the Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Warsaw. MATERIALS AND METHODS: The retrospective analysis was based on the 1173 postoperative histopathological examinations of the salivary glands collected over a period of 10 years (2010-2020). Analysis included histopathological diagnosis, localization of lesions, multifocality, complete resection, lymph node involvement, as well as demographical data of sex and age. RESULTS: Over half (61.38%) of all indications for surgical treatment of the salivary glands were benign tumors (n = 720) with the most common pleomorphic adenoma, which accounted for 33.5% of all cases (n = 393). The next most frequent group of diagnoses were non-neoplastic diseases of the salivary glands, 24.98% of all cases (n = 293). Malignant neoplasms of the salivary glands accounted for 13.64% of all diagnoses (n = 160). Salivary gland diseases slightly predominated among the female sex, with a particularly pronounced predominance in pleomorphic adenoma. Men, on the other hand, were treated more often for malignant neoplasms. The mean age of the patients was the lowest in the group of non-neoplastic diseases of the salivary glands. The mean age of patients with malignant neoplasms was significantly higher than in other pathologies. The largest tumors size was identified for malignant neoplasms. Diseases of the salivary glands treated surgically were most often located in the parotid gland, with the exception of non-neoplastic diseases, which most often involved the submandibular gland. CONCLUSIONS: Surgical management in pathologies of the salivary glands applies to all types of lesions, both neoplastic and non-neoplastic diseases. Patients with particular diseases are characterized by a different structure of age, sex and location of changes.


Asunto(s)
Adenoma Pleomórfico , Neoplasias de las Glándulas Salivales , Adenoma Pleomórfico/patología , Adulto , Estudios de Cohortes , Femenino , Humanos , Masculino , Estudios Retrospectivos , Neoplasias de las Glándulas Salivales/epidemiología , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/cirugía , Glándulas Salivales/patología , Glándulas Salivales/cirugía
13.
Artículo en Inglés | MEDLINE | ID: mdl-36011881

RESUMEN

(1) Background: Malignant tumours of the salivary glands have different clinical and histopathological characteristics. They most commonly involve the parotid gland. Histopathologically, the most common are mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (AdCC), acinic cell carcinoma (AcCC), adenocarcinoma, carcinoma in pleomorphic adenoma (CPA), and squamous cell carcinoma (SCC). (2) Methods: We analysed 2318 patients with malignant parotid gland tumours reported to the National Cancer Registry (NCR) in Poland over 20 years (1999-2018). The demographic characteristics of patients, clinical factors, and overall survival (OS) were analysed. (3) Results: The average age was 61.33 ± 16.1 years. The majority were males (55%) and urban citizens (64%). High percentage of carcinomas was diagnosed in locoregional (33.7%) and systemic (10.4%) stadium. The most prevalent diagnoses were SCC (33.3%) and adenocarcinoma (19.6%). Surgical resection with adjuvant RT (42.1%) was the most common treatment. The OS analysis showed a median survival time of 5.6 years. The most favorable median OS was found in patients with AcCC (18.30 years), the worst for SCC (1.58 years). (4) Conclusion: AcCC has the best prognosis and SCC the worst. Tumour stadium, treatment, and demographic factors affect prognosis. Improvements in diagnosis and re-evaluation of treatment standards are necessary to enhance the outcome of patients with parotid gland cancers in Poland.


Asunto(s)
Adenocarcinoma , Carcinoma de Células Escamosas , Neoplasias de la Parótida , Neoplasias de las Glándulas Salivales , Adenocarcinoma/epidemiología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Glándula Parótida/patología , Neoplasias de la Parótida/epidemiología , Neoplasias de la Parótida/patología , Polonia/epidemiología , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/terapia
14.
J Clin Med ; 11(15)2022 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-35956004

RESUMEN

The involvement of the larynx in plasma cell myeloma (PCM) may manifest as solitary extramedullary plasmacytoma of the larynx (sEMP-L) or as infiltration of the larynx during newly diagnosed or relapsed systemic disease with bone marrow involvement (plasma cell myeloma with laryngeal involvement, PCM-L). To increase knowledge about these rare conditions, we performed a retrospective analysis along with a comprehensive literature review of cases of sEMP-L or PCM-L. Six patients (two sEMP-L and four PCM-L) were identified in our tertiary laryngological centre from 2009 to 2021, constituting 0.88% of all malignant laryngeal tumours. The literature search yielded 187 cases, including 152 sEMP-L and 35 sPCM-L. A comparison of baseline characteristics between sEMP-L and PCM-L performed in the combined cohort of cases from literature review and retrospective analysis revealed that patients with sEMP-L were younger (56 vs. 64 years, p ≤ 0.001) and presented less commonly with thyroid or cricoid cartilage involvement (2.2% vs. 30.8%, p ≤ 0.001). The prognosis of sEMP-L was better than PCM-L (overall survival 86% vs. 55% at 5 years, p = 0.002). Analysis of potential factors that could influence progression-free survival (PFS) in the group of sEMP-L revealed that male sex and cartilage involvement negatively affected PFS in univariate analyses, while only cartilage involvement retained statistical significance in multivariate analysis (HR = 19.94, p = 0.024). In conclusion, PCM with laryngeal involvement is sporadic. Secondary involvement of the larynx during PCM might be more common than sEMP-L and is associated with worse survival. The involvement of cartilage adversely influences the outcome of sEMP-L.

15.
Front Oncol ; 12: 768954, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35664801

RESUMEN

Hypopharyngeal cancer is a poorly characterized type of head and neck squamous cell carcinoma (HNSCC) with bleak prognosis and only few studies focusing specifically on the genomic profile of this type of cancer. We performed molecular profiling of 48 HPV (Human Papilloma Virus)-negative tumor samples including 23 originating from the hypopharynx and 25 from the larynx using a targeted next-generation sequencing approach. Among genes previously described as significantly mutated, TP53, FAT1, NOTCH1, KMT2C, and CDKN2A were found to be most frequently mutated. We also found that more than three-quarters of our patients harbored candidate actionable or prognostic alterations in genes belonging to RTK/ERK/PI3K, cell-cycle, and DNA-damage repair pathways. Using previously published data we compared 67 hypopharyngeal cancers to 595 HNSCC from other sites and found no prominent differences in mutational frequency except for CASP8 and HRAS genes. Since we observed relatively frequent mutations of KTM2C (MLL3) in our dataset, we analyzed their role, in vitro, by generating a KMT2C-mutant hypopharyngeal cancer cell line FaDu with CRISPR-Cas9. We demonstrated that KMT2C loss-of-function mutations resulted in increased colony formation and proliferation, in concordance with previously published results. In summary, our results show that the mutational profile of hypopharyngeal cancers might be similar to the one observed for other head and neck cancers with respect to minor differences and includes multiple candidate actionable and prognostic genetic alterations. We also demonstrated, for the first time, that the KMT2C gene may play a role of tumor suppressor in HNSCC, which opens new possibilities in the search for new targeted treatment approaches.

16.
J Clin Med ; 11(10)2022 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-35628878

RESUMEN

BACKGROUND: Early diagnosis of laryngeal lesions is necessary to begin treatment of patients as soon as possible to preserve optimal organ functions. Imaging examinations are often aided by artificial intelligence (AI) to improve quality and facilitate appropriate diagnosis. The aim of this study is to investigate diagnostic utility of AI in laryngeal endoscopy. METHODS: Five databases were searched for studies implementing artificial intelligence (AI) enhanced models assessing images of laryngeal lesions taken during laryngeal endoscopy. Outcomes were analyzed in terms of accuracy, sensitivity, and specificity. RESULTS: All 11 studies included presented an overall low risk of bias. The overall accuracy of AI models was very high (from 0.806 to 0.997). The accuracy was significantly higher in studies using a larger database. The pooled sensitivity and specificity for identification of healthy laryngeal tissue were 0.91 and 0.97, respectively. The same values for differentiation between benign and malignant lesions were 0.91 and 0.94, respectively. The comparison of the effectiveness of AI models assessing narrow band imaging and white light endoscopy images revealed no statistically significant differences (p = 0.409 and 0.914). CONCLUSION: In assessing images of laryngeal lesions, AI demonstrates extraordinarily high accuracy, sensitivity, and specificity.

17.
PeerJ ; 10: e13104, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35462765

RESUMEN

Background: The study was designed to evaluate the potential validity and utility of selected molecular markers in serum samples from patients with specific stages of laryngeal intraepithelial lesions that could serve as diagnostic tools in differentiation of benign and dysplastic lesions from invasive pathologies. Methods: Prospective study included 80 consecutive patients with vocal fold lesions treated at the single otorhinolaryngology centre. All participants had surgical resection of the lesion. Blood samples were collected from each patient before the surgery. Final diagnosis was confirmed on histopathological examination and included 39 (48.75%) non-dysplastic lesions, eight (10%) low-grade dysplasia, six (7.5%) high-grade dysplasia and 27 (33.75%) invasive cancers. The ELISA procedures were performed according to the manufacturer's instruction. Individual serum concentration of selected proteins was reported in ng/ml: Vascular Endothelial-Cadherin Complex (VE-cad), CD44, Human High mobility group protein B1(HMGB1), Kallikrein 6. Results: The highest mean levels of HMGB1, KLK6 and VE-cad were detected in sera of patients with low-grade dysplasia (81.14, 24.33, 14.17 respectively). Soluble CD44 was the most elevated in patients with non-dysplastic lesions (2.49). The HMGB1, KLK6 and VE-cad serum levels were increasing from non-dysplastic to low-grade dysplasia and followed by the decrease for high-grade dysplasia and invasive cancer, however the differences were not significant (p-values 0.897, 0.354, 0.1 respectively). Patients' serum had the highest CD44 concentration in non-dysplastic and low-grade dysplasia with the following decrease through high-grade dysplasia and invasive cancer. GERD symptomatic patients had higher levels of KLK6 and CD44 than other patients (p-value 0.06 and 0.084 respectively). There were no significant differences of biomarkers levels related to patients' gender (p-value from 0.243 to 1) or smoking status (p-value from 0.22 to 0.706). Conclusions: VE-cad, HMGB1, CD44 and KLK6 did not prove to be reliable biomarkers implicating malignant potential within vocal fold hypertrophic intraepithelial lesions.


Asunto(s)
Proteína HMGB1 , Neoplasias Laríngeas , Humanos , Estudios Prospectivos , Neoplasias Laríngeas/metabolismo , Biomarcadores , Hiperplasia/patología , Cadherinas , Calicreínas , Glotis/metabolismo , Receptores de Hialuranos
18.
Eur Arch Otorhinolaryngol ; 279(7): 3645-3655, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34893934

RESUMEN

OBJECTIVES: The aim of the study was to determine the influence of oral, oropharyngeal, laryngeal and hypopharyngeal dysplasia and cancer diagnosis on motivation to smoking cessation in patients. Consecutively, we assessed the competence of ENT specialists in counseling anti-smoking therapies. METHODS: Questionnaire of expected support, Schneider motivation test and Fagerström Test for Nicotine Dependence (FTND) were administered to 50 smoking patients. The online survey was collected from 152 ENT doctors. RESULTS: Mean FTND score was 4.58 and Heaviness of Smoking Index (HSI) was 3.1. Patients with oral cavity and oropharyngeal cancer showed the greatest dependence to nicotine 7.67 and 5.25, respectively, and with hypopharyngeal cancer had the lowest 3.5, (p = 0.039). The ranges of HSI were significantly higher for younger patients (p = 0.036). 35 patients were adequately motivated to quit smoking, and their mean age was statistically higher (p = 0.05). Self-reported motivation to smoking cessation was 76%. Of 152 surveyed doctors, only 39% declared knowledge of the diagnostic and therapeutic cessation interventions. 75% showed interest in the training programs.


Asunto(s)
Neoplasias de Cabeza y Cuello , Cese del Hábito de Fumar , Tabaquismo , Actitud , Neoplasias de Cabeza y Cuello/terapia , Humanos , Motivación , Tabaquismo/diagnóstico , Tabaquismo/psicología
19.
BMJ Open ; 11(4): e045308, 2021 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-33931410

RESUMEN

OBJECTIVES: To investigate the utilisation of different treatment modalities for patients with laryngeal cancer (LC) during last decade in Poland. SETTING: Retrospective population-based study. PARTICIPANTS: Patients with LC treated between January 2009 and December 2018. PRIMARY AND SECONDARY OUTCOME MEASURES: The contemporary utilisation of treatment modalities of LC: surgery with intent of radical resection (total or partial laryngectomy), radiotherapy (RT) and chemoradiotherapy (CRT). RESULTS: There was determined the overall number of 22 957 new diagnosis of LC from 2010 to 2018 and confirmed the steady decrease in the incidence rate of LC in the following years from 7.7 to 6.03. The mean age of patients with LC was raising by an average of 0.3832 of year per year. There was observed decrease in number of total laryngectomies (TLs) in subsequent years (from 1122 in 2009 to 776 in 2018). The number of procedures involving partial laryngeal resection was within stable ranges however the upward trend was observed separately for vocal cordectomy. There was established decreased involvement of surgery in LC treatment from 52.8% in 2009 to 24.3% in 2016 with the subsequent rise to 33.7% in 2018. The percentage of patients receiving RT increased from 23.8% in 2009 to 42.1% in 2013 with the next decrease to 25.7% in 2018. The utilisation of CRT in LC treatment was progressively increasing over analysed years from 23.4% in 2009 reaching 40.6% in 2018. CONCLUSIONS: The presented data revealed an increase in total number of organs preserving treatment modality with CRT in subsequent years with decreasing number of TLs in Polish patients with LC.


Asunto(s)
Neoplasias Laríngeas , Humanos , Neoplasias Laríngeas/epidemiología , Neoplasias Laríngeas/cirugía , Laringectomía , Estadificación de Neoplasias , Polonia/epidemiología , Estudios Retrospectivos , Resultado del Tratamiento
20.
Braz. j. otorhinolaryngol. (Impr.) ; 87(2): 137-144, mar.-abr. 2021. tab, graf
Artículo en Inglés, Portugués | LILACS | ID: biblio-1249351

RESUMEN

Resumo Introdução: A microarquitetura dos vasos mucosos e submucosos é crucial para o diagnóstico. A neoangiogênese é um parâmetro biológico confirmado que implica progressão e metástase no câncer de laringe. Objetivo: Investigar a correlação entre as classificações de padrões vasculares por imagem de banda estreita e densidade imuno-histológica de microvasos em diferentes tipos de lesões intraepiteliais da prega vocal. Método: A análise da densidade imuno-histológica de microvasos com o uso de anticorpos CD31 e CD34 foi feita em 77 lesões, inclusive: 20 lesões não displásicas, 20 com displasia de baixo grau, 17 com displasia de alto grau e 20 com câncer invasivo. A avaliação dos padrões vasculares com a imagem de banda estreita, de acordo com as diretrizes de classificação de Ni e da European Laryngological Society, foi feita antes da ressecção cirúrgica. Resultados: O valor médio da densidade imuno-histológica de microvasos com CD31 foi o mais alto para as lesões do Tipo IV de Ni (20,55), enquanto para o padrão longitudinal e perpendicular, de acordo com a classificação da European Laryngological Society, foi de 12,50 e 19,45, respectivamente. O maior valor médio da densidade imuno-histológica de microvasos com CD34 foi identificado nas lesões de Ni Tipo Va (35,43) e nos padrões longitudinal e perpendicular de acordo com a classificação da European Laryngological Society foi de 15,12 e 30,40, respectivamente. Conclusões: As alterações morfológicas microvasculares das lesões laríngeas intraepiteliais observadas na endoscopia por imagem de banda estreita foram positivamente correlacionadas com os índices de angiogênese da avaliação imuno-histológica.


Asunto(s)
Neoplasias Laríngeas/diagnóstico por imagen , Imagen de Banda Estrecha , Pliegues Vocales/diagnóstico por imagen , Endoscopía , Densidad Microvascular
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