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Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine

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A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy in Clinical Medicine".

Deadline for manuscript submissions: 15 October 2026 | Viewed by 9124

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Special Issue Editor

Dr. Jerome Rene Lechien

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Guest Editor

1. Department of Otolaryngology-Head & Neck Surgery, CHU Saint Pierre, 1000 Brussels, Belgium
2. Department of Otolaryngology, Elsan, Polyclinic of Atlantique, Poitiers, France
3. Department of Surgery, Faculty of Medicine and Pharmacy, Research Institute for Health Sciences and Technology, University of Mons (UMONS), 7000 Mons, Belgium
4. Department of Otolaryngology, Foch Hospital, Paris Saclay University, Paris, France
Interests: otolaryngology; oral cancer; oncology; head and neck surgery; rhinology; ENT; artificial intelligence; laryngology; laryngopharyngeal reflux
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Special Issue Information

Dear Colleagues,

Background:

Otolaryngology-Head and Neck Surgery is confronted with challenges in treatment optimization due to the complex interplay of anatomical, physiological, and histopathological findings of ear, nose, and throat pathologies affecting individual patients' quality of life. Traditional "one-size-fits-all" approaches often yield suboptimal outcomes, highlighting the need for personalized therapeutic strategies.

History:

The field has evolved from standardized protocols to increasingly individualized approaches, initially through clinical phenotyping and biomarker identification. Recent technological advances, especially in artificial intelligence, have accelerated the shift toward precision medicine in otolaryngology.

Aim and Scope:

This Special Issue aims to provide insight into the integration of personalized medicine approaches in otolaryngology-head and neck surgery, emphasizing how patient-specific factors (genetic profiles, environmental influences, comorbidities) can be considered to lead to tailored therapeutic strategies. A particular focus on the synergistic potential of artificial intelligence and machine learning in advancing personalized care can be performed through improved diagnostic accuracy, treatment selection, and outcome prediction.

Cutting-edge Research:

Current innovations include AI-powered imaging analysis for surgical planning, machine learning algorithms for treatment response prediction, personalized tissue engineering, targeted molecular therapies, and the application of big data analytics to identify patient-specific risk factors and optimal intervention timing.

Papers Solicited:

We welcome original research, systematic reviews, and comprehensive reviews dedicated to:

AI/ML applications in personalized diagnosis and treatment;
Novel biomarker identification and validation studies;
Patient-specific outcome prediction models;
Precision therapeutics in head and neck surgery;
Integration of multi-omics data in personalized care;
Real-world implementation of personalized medicine approaches.

Prof. Dr. Jerome Rene Lechien
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

otolaryngology
otorhinolaryngology
artificial Intelligence
personalized Medicine
treatments

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Published Papers (8 papers)

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Research

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17 pages, 903 KB

Open AccessArticle

Treatment of Severe Uncontrolled Chronic Rhinosinusitis with Nasal Polyposis (CRSwNP) with Mepolizumab or Dupilumab: A Preliminary Single-Center Study for Evaluation of Safety and Efficacy

by Melania Bertolini, Lorenzo Fucci, Luca Guastini, Carlo Conti, Gregorio Santori and Frank Rikki Mauritz Canevari

J. Pers. Med. 2026, 16(4), 224; https://doi.org/10.3390/jpm16040224 - 17 Apr 2026

Viewed by 1286

Abstract

Background: The study aims to analyze the safety and efficacy of Mepolizumab and Dupilumab in the treatment of patients affected by severe chronic rhinosinusitis not controlled with nasal polyposis (CRSwNP) from a tertiary care regional referral center, with the aim of improving the concept of personalized medicine. Methods: A retrospective study was conducted on 72 adult patients selected for biologic therapy according to EPOS/EUFOREA criteria. The patients received either Mepolizumab or Dupilumab. Primary endpoints were reduction in nasal polyp size, improvement in disease-specific quality of life (sinonasal outcome test-22, visual analog scale), olfactory recovery, and asthma control. Secondary outcomes were the assessment of adverse events. Results: Both monoclonal antibodies significantly improved nasal polyps score (NPS), sinonasal outcome test-22 (SNOT-22), and asthma control test (ACT) over time, with no statistically significant differences between Mepolizumab and Dupilumab. In contrast, blood eosinophil counts showed significant differences: Dupilumab was associated with a transient increase in eosinophil levels (absolute Δ = 660.08% Δ = 9%; p < 0.001), while Mepolizumab produced a marked reduction (absolute Δ = 192.52% Δ = 2%; p < 0.001). Both treatments were well tolerated, with only mild adverse events reported. Conclusions: Mepolizumab and Dupilumab are both effective and safe in improving sinonasal symptoms and quality of life in severe uncontrolled CRSwNP. While improvements in NPS, SNOT-22, and ACT scores were comparable, Mepolizumab achieved a significant reduction in eosinophil counts, whereas Dupilumab was associated with faster clinical improvement but a transient eosinophilia. These findings suggest that biologic choice may be guided by individual patient profiles and inflammatory patterns. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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13 pages, 1162 KB

Open AccessArticle

Somatic Mutational Landscape in Follicular Thyroid Cancer: Insights from AACR GENIE Data

by Beau Hsia, Julia Kuzniar, Joey Luzarraga, Asritha Sure, Vinay Veluvolu, Eli Oved, Peter T. Silberstein, Joseph Thirumalareddy, Abubakar Tauseef, Vijay Patel and Aliasgher Khaku

J. Pers. Med. 2026, 16(1), 3; https://doi.org/10.3390/jpm16010003 - 21 Dec 2025

Viewed by 870

Abstract

Objective(s): To delineate the somatic mutational landscape of follicular thyroid carcinoma (FTC) from a large, real-world cohort to identify molecular subtypes and actionable targets for personalized therapeutic interventions. Methods: Genomic and clinical data for 168 FTC samples were retrieved from the AACR Project GENIE^® registry via cBioPortal. This study assessed mutation frequencies, copy number alterations, and subgroup differences (primary vs. metastatic; adult vs. pediatric) using statistical tests. Results: NRAS was the most common mutation (33.9%), followed by TERT (22.6%), DICER1 (15.5%), HRAS (11.9%), and PTEN (10.7%). DICER1 mutations were significantly enriched in pediatric cases (44.4% vs. 4.6% in adults, p < 0.001), while TERT mutations were exclusive to adults (42%). NRAS mutations were more frequent in metastatic tumors (42.4%) than primary tumors (29.2%). Conclusions: FTC tumorigenesis is driven by distinct molecular pathways, with significant heterogeneity between pediatric and adult patients as well as primary and metastatic disease. These findings underscore the necessity of molecular profiling for patient stratification and provide a strong rationale for developing personalized treatment strategies to improve clinical outcomes. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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12 pages, 429 KB

Open AccessArticle

Genomic Profiling of Laryngeal Squamous Cell Carcinoma Reveals Novel Biomarkers for Precision Medicine

by Beau Hsia, Gabriel A. Bitar, Nathan S. Tran, Katelin Keenehan, Pedro S. Bonilla, Saif Alshaka, Eli Oved, Peter T. Silberstein, Abubakar Tauseef, Vijay A. Patel and Aliasgher Khaku

J. Pers. Med. 2026, 16(1), 2; https://doi.org/10.3390/jpm16010002 - 20 Dec 2025

Viewed by 1036

Abstract

Objective(s): To characterize the somatic mutational landscape of laryngeal squamous cell carcinoma (LSCC) using AACR Project GENIE data to identify potential biomarkers for tumor progression and guide precision therapy. Methods: Clinical and genomic data from 135 LSCC samples (primary and metastatic) were analyzed from the AACR Project GENIE database. Mutations were compared by tumor site and gender using chi-squared and Mann–Whitney U tests; co-occurrence and mutual-exclusivity analyses were performed. Results: TP53 mutations were most common (89.6%), followed by KMT2D (27.4%), FAT1 (20.7%), and NOTCH1 (20.7%). CDK8 mutations were enriched in females (p = 0.011) and ATP8B1 in males (p = 0.013). DMD mutations characterized primary tumors (p = 0.049), whereas ATP8B1 and SAMD9L were linked to metastases (p < 0.001). The cohort was 85.9% male and 71.5% White; 59.2% of samples were primary and 39.2% recurrent/metastatic. Co-occurrence analysis identified distinct molecular subtypes. The identification of distinct molecular subtypes and gender-specific mutations, such as CDK8 in females and ATP8B1 in males, suggests potential avenues for tailored therapeutic interventions. Conclusions: LSCC exhibits marked genetic heterogeneity dominated by TP53 alterations. ATP8B1 and SAMD9L mutations may mark metastatic disease, and gender-specific mutations suggest avenues for personalized therapy. These insights support development of targeted strategies, including immunotherapies such as pembrolizumab in TP53-altered tumors. These insights into the genomic heterogeneity of LSCC lay the groundwork for developing targeted therapeutic strategies and patient stratification, ultimately advancing a personalized medicine approach to this disease. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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13 pages, 3077 KB

Open AccessArticle

A Geometric Morphometrics Approach for Predicting Olfactory Region Accessibility: Toward Personalized Nose-to-Brain Drug Delivery

by Priya Vishnumurthy, Thomas Radulesco, Gilles Bouchet, Alain Regard and Justin Michel

J. Pers. Med. 2025, 15(10), 461; https://doi.org/10.3390/jpm15100461 - 30 Sep 2025

Cited by 1 | Viewed by 611

Abstract

Background: The anatomical variability of the nasal cavity affects intranasal drug delivery, especially to the olfactory region for nose-to-brain treatments. While previous studies used average models or 2D measurements to account for inter-individual variability, 3D shape variation of the region crossed by drug particles that target the olfactory area, namely the region of interest (ROI), remains unexplored to our knowledge. Methods: A geometric morphometric analysis was performed on the ROI of 151 unilateral nasal cavities from the CT scans of 78 patients. Ten fixed landmarks and 200 sliding semi-landmarks were digitized, using Viewbox 4.0, and standardized via Generalized Procrustes Analysis. Shape variability was analyzed through Principal Component Analysis. Morphological clusters were identified using Hierarchical Clustering on Principal Components, and characterized with MANOVA, ANOVA, and Tukey tests. Results: Validation tests confirmed the method’s reliability. Three morphological clusters were identified. Variations were significant in the X and Y axes, and minimal in Z. Cluster 1 had a broader anterior cavity with shallower turbinate onset, likely improving olfactory accessibility. Cluster 3 was narrower with deeper turbinates, potentially limiting olfactory accessibility. Cluster 2 was intermediate. Notably, 31.5% of patients had at least one cavity in cluster 1. Conclusions: Three distinct morphotypes of the region of the nasal cavity that potentially influence accessibility were identified. These findings will guide future computational fluid dynamics studies for optimizing nasal drug targeting and represent a practical step toward tailoring nose-to-brain drug delivery strategies in alignment with the principles of personalized medicine. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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11 pages, 814 KB

Open AccessArticle

Validity and Reliability of the Singer Reflux Symptom Score (sRSS)

by Jérôme R. Lechien

J. Pers. Med. 2025, 15(8), 348; https://doi.org/10.3390/jpm15080348 - 2 Aug 2025

Viewed by 1588

Abstract

Objectives: To investigate the reliability and validity of the Singer Reflux Symptom Score (sRSS), a new patient-reported outcome questionnaire documenting the severity of reflux symptoms in singing voice is proposed. Methods: Amateur and professional singers consulting the European Reflux Clinic for laryngopharyngeal reflux disease (LPRD) symptoms and findings were prospectively recruited from January 2022 to February 2023. The diagnosis was based on a Reflux Symptom Score (RSS) > 13 and Reflux Sign Assessment (RSA) > 14. A control group of asymptomatic singer subjects was recruited from the University of Mons. The sRSS was rated within a 7-day period to assess test–retest reliability. Internal consistency was measured using Cronbach’s α in patients and controls. A correlation analysis was performed between sRSS and Singing Voice Handicap Index (sVHI) to evaluate convergent validity. Responsiveness to change was evaluated through pre- to post-treatment sRSS changes. The sRSS threshold for suggesting a significant impact of LPRD on singing voice was determined by receiver operating characteristic (ROC) analysis. Results: Thirty-three singers with suspected LPRD (51.5% female; mean age: 51.8 ± 17.2 years) were consecutively recruited. Difficulty reaching high notes and vocal fatigue were the most prevalent LPRD-related singing complaints. The sRSS demonstrated high internal consistency (Cronbach-α = 0.832), test–retest reliability, and external validity (correlation with sVHI: r = 0.654; p = 0.015). Singers with suspected LPRD reported a significant higher sRSS compared to 68 controls. sRSS item and total scores significantly reduced from pre-treatment to 3 months post-treatment except for the abnormal voice breathiness item. ROC analysis revealed superior diagnostic accuracy for sRSS (AUC = 0.971) compared to sRSS-quality of life (AUC = 0.926), with an optimal cutoff at sRSS > 38.5 (sensitivity: 90.3%; specificity: 85.0%). Conclusions: The sRSS is a reliable and valid singer-reported outcome questionnaire for documenting singing symptoms associated with LPRD leading to personalized management of Singers. Future large-cohort studies are needed to evaluate its specificity for LPRD compared to other vocal fold disorders in singers. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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Review

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23 pages, 365 KB

Open AccessReview

Etiology-Driven Personalized Cochlear Implantation: Implications for Electrode Choice, Timing, and Outcomes

by Chang-Hee Kim and Byung Yoon Choi

J. Pers. Med. 2026, 16(3), 130; https://doi.org/10.3390/jpm16030130 - 28 Feb 2026

Viewed by 667

Abstract

Background/Objectives: A Cochlear implantation (CI) is well-established auditory rehabilitation for severe to profound sensorineural hearing loss (SNHL), yet outcomes vary widely among implantees. Even with advancements in surgical methods and device technology, CI is still commonly applied as a generally uniform procedure, with limited attention to the underlying cause of SNHL. This review aims to summarize current evidence supporting etiology-based personalization of CI and to examine how etiology influences electrode selection, implantation timing, and clinical outcomes. Methods: We reviewed clinical and translational studies focusing on congenital cytomegalovirus infection, genetic hearing loss, cochlear nerve deficiency, and inner-ear malformations, emphasizing how etiology influences cochlear anatomy, neural integrity, and CI outcomes. Results: Etiology significantly affects neural survival, cochlear anatomy, and auditory plasticity, all of which influence optimal electrode design, insertion strategy, and timing of CI. Tailoring CI approaches to specific etiologies may help explain the substantial variability in outcomes observed in both children and adults. Conclusions: CI should be viewed as a precision-based intervention rather than a uniform treatment. Integrating etiology into clinical decision-making is essential for advancing truly personalized CI. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

9 pages, 224 KB

Open AccessReview

Massive Hypopharyngeal Dilatation and Cervical Lung Herniation in a Semi-Professional Wind Instrument Player: Highlighting the Necessity of Personalized Diagnostic and Management Strategies

by Michail Galanis, Florian Dammann, Konstantinos Gioutsos, Patrick Dorn and Eberhard Seifert

J. Pers. Med. 2026, 16(3), 127; https://doi.org/10.3390/jpm16030127 - 25 Feb 2026

Viewed by 402

Abstract

Wind instrument performance requires sustained and repetitive increases in intrathoracic and pharyngeal pressures, which may lead to rare but clinically relevant anatomical alterations of the upper aerodigestive tract. We report the case of a 46-year-old male semi-professional wind instrument player who developed massive hypopharyngeal dilatation and cervical lung herniation as a consequence of long-term, high-pressure musical activity. Dynamic imaging performed during instrument playing demonstrated marked hypopharyngeal expansion and herniation of the lung apices into the cervical region, highlighting the importance of individualized diagnostic strategies that replicate patient-specific triggers. Multidisciplinary evaluation integrating otorhinolaryngology, thoracic surgery, radiology, and pulmonology led to a personalized risk assessment and the recommendation to cease wind instrument performance in order to prevent potentially life-threatening complications, such as pneumothorax. This case illustrates how personalized diagnostic approaches and tailored clinical decision-making are essential in managing rare occupational conditions. A comprehensive review of the literature is provided, with a focus on individualized risk factors, diagnostic strategies, and personalized treatment concepts relevant to precision medicine. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

Other

Jump to: Research, Review

15 pages, 1036 KB

Open AccessSystematic Review

Computational Fluid Dynamics Approach for Direct Nose-to-Brain Drug Delivery: A Systematic Review and Meta-Analysis

by Priya Vishnumurthy, Thomas Radulesco, Gilles Bouchet, Alain Regard and Justin Michel

J. Pers. Med. 2025, 15(10), 447; https://doi.org/10.3390/jpm15100447 - 24 Sep 2025

Cited by 2 | Viewed by 1740

Abstract

Background/Objectives: Optimizing drug deposition to the olfactory region is key in Nose-to-brain drug delivery strategies. However, findings from computational fluid dynamics (CFD) studies remain inconsistent concerning the parameters influencing olfactory deposition, limiting clinical translation and device optimization. This systematic review aims to identify robust CFD parameters for optimizing drug delivery to the olfactory region. Methods: A systematic review and meta-analysis were conducted following PRISMA guidelines, selecting studies reporting CFD simulations of nasal drug delivery with evaluation of olfactory deposition efficiency. The primary outcome was the correlation between each CFD parameter and olfactory deposition rate. Parameters included particle size, impaction parameter, flow rate, spray cone angle, insertion angle, injection velocity, head position, release position, and breathing pattern. Data were extracted and standardized, and statistical methods were used to assess correlations, heterogeneity, and potential biases in study results. Results: Smaller particle size (pooled r = −0.42) and lower impaction parameter (r = −0.39) were significantly associated with higher olfactory deposition. No consistent correlation was observed with breathing flow rate. Heterogeneity across studies was high (I² > 90%). Funnel plots asymmetry suggested potential publication bias in particle-related outcomes. Conclusions: Particle characteristics, especially size and inertia, are the most critical determinants of olfactory deposition in CFD simulations. These findings support design optimization of nasal delivery devices targeting the olfactory region and underscore the need for standardized reporting and validation across CFD studies. Full article

(This article belongs to the Special Issue Otolaryngology in Clinical Practice: The Necessity of Personalized Medicine)

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