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Diagnostics
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Pathology and Diagnosis of Head and Neck Diseases
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Pathology and Diagnosis of Head and Neck Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 10042

Special Issue Editor

Dr. Eliano Cascardi

E-Mail Website
Guest Editor
Pathology Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy
Interests: tumor pathology of the head and neck; female and unknown primary origin (CUP) in order to identify possible tissues of origin and new therapeutic approaches
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Unlike all organs and systems, the head, neck, and oral cavity constitute a complex and extremely heterogeneous district comparable to a real miniature organism. The pathologies in the head and neck are of different natures, including inflammatory, immune, lymphomas, bone stromal and odontogenic neoplasms, epithelial carcinomas, HPV-related ones, and salivary gland tumors. In the era of personalized and precision medicine, this district offers very broad fields of application for new diagnostic techniques, including AI and molecular analysis, as well as future clinical and pharmacological trials.

This Special Issue aims to collect original manuscripts investigating head and neck disease through new diagnostic-therapeutic approaches and to allow researchers to discuss new research developments.

Dr. Eliano Cascardi
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. Diagnostics is an international peer-reviewed open access semimonthly 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

  • head and neck disease
  • histopathology
  • oral tumors
  • cancer
  • biomarkers
  • digital pathology
  • AI applications
  • personalized medicine

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Published Papers (5 papers)

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21 pages, 2153 KB  
Article
The Solitary Fibrous Tumor, the Chameleon of the Head and Neck Region—Clinical, Epidemiological, and Histopathological Aspects
by Marina Rakitovan, Adrian Nicoara, Raluca Maria Closca, Raluca Amalia Ceausu, Cristina Stefania Dumitru, Alina Cristina Barb, Dorin Novacescu, Antonia Armega Anghelescu, Alexandru Cristian Cindrea and Flavia Zara
Diagnostics 2025, 15(21), 2721; https://doi.org/10.3390/diagnostics15212721 - 27 Oct 2025
Viewed by 1221
Abstract
Background/Objectives: The solitary fibrous tumor is an uncommon benign mesenchymal neoplasm with relatively indolent and rarely metastasizing behavior. This retrospective study includes 26 cases of head and neck solitary fibrous tumors diagnosed between 2017 and 2024. Methods: The morphological examination with Hematoxylin–Eosin staining [...] Read more.
Background/Objectives: The solitary fibrous tumor is an uncommon benign mesenchymal neoplasm with relatively indolent and rarely metastasizing behavior. This retrospective study includes 26 cases of head and neck solitary fibrous tumors diagnosed between 2017 and 2024. Methods: The morphological examination with Hematoxylin–Eosin staining was completed via immunohistochemical reactions with specific antibodies. Results: The Ki-67 proliferation index had a median of 11.2%, with an interquartile range of 5% to 15%. CD20-positive B-cells had a score of 0 in 50% of cases (n = 26), while CD3 and CD5 T-cells had a score of 3 in 81% of cases (n = 21). CD4-positive T-cells had a majority score of 1 (81%, n = 21). CD8-positive T-cells had a broader distribution: 65% (n = 17) of cases presented a score of 1, 27% (n = 7) a score of 2, and 8% (n = 8) a score of 0. Antigen-presenting dendritic cells and mast cells presented a majority score of 0 in the entire cohort, being undetectable in 85% (n = 22) and 88% (n = 23) of cases, respectively. CD20-positive B-lymphocytes demonstrated moderately strong correlations with the Ki-67 cell proliferation index (r = 0.77). The time to recurrence was most strongly associated with the Ki-67 mitotic index (r = 0.81), CD4-positive (r = 0.85), and CD5-positive T-lymphocytes (r = 0.55), and CD20-positive B-lymphocyte expression (r = 0.68). Conclusions: This research illustrates our experience with head and neck solitary fibrous tumors, the surgical decisions, and the morphological and immunohistochemical features, while reviewing the cases published in English in the specialized literature. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Head and Neck Diseases)
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12 pages, 12941 KB  
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“Dry Tap” Fine-Needle Aspiration Biopsy as a Diagnostic Clue in Cyst-like Juvenile Jaw Lesions Mimicking Dentigerous Cysts on Panoramic Radiography and Cone-Beam Computed Tomography
by Kamil Nelke, Klaudiusz Łuczak, Ömer Uranbey, Büşra Ekinci, Angela Rosa Caso, Michał Gontarz, Maciej Janeczek, Zygmunt Stopa, Piotr Kuropka and Maciej Dobrzyński
Diagnostics 2026, 16(3), 439; https://doi.org/10.3390/diagnostics16030439 - 1 Feb 2026
Viewed by 561
Abstract
Pediatric odontogenic tumors are rare but are frequently overlooked because they often mimic simple cysts on routine radiographic examinations. The radiographic appearance on panoramic imaging and cone-beam computed tomography (CBCT) frequently does not correlate with the true biological nature of these lesions. On [...] Read more.
Pediatric odontogenic tumors are rare but are frequently overlooked because they often mimic simple cysts on routine radiographic examinations. The radiographic appearance on panoramic imaging and cone-beam computed tomography (CBCT) frequently does not correlate with the true biological nature of these lesions. On CBCT, classic odontogenic tumors often demonstrate mixed radiolucent–radiopaque patterns with ill-defined borders, internal calcifications, septations, or other structural features. The diagnostic challenge arises when an odontogenic tumor mimics a unilateral, well-defined radiolucent area or a cystic lesion with clear borders and no associated tooth displacement, erosion, root resorption, or cortical bone dehiscence. Panoramic radiography has inherent diagnostic limitations but remains widely used for routine dental screening. CBCT provides enhanced three-dimensional assessment and improves diagnostic accuracy in the evaluation of jaw lesions. A marked increase in dental follicle diameter necessitates differentiation between cystic transformation, inflammatory processes, and other odontogenic pathologies. Cortical swelling and bone asymmetry warrant careful evaluation. In this context, an atypical cyst-like lesion detected on routine panoramic radiography prompted a needle aspiration biopsy, which revealed a dry tap and suggested a solid lesion. This prompted CBCT evaluation. Two juvenile cases are presented in which clinical findings, panoramic radiography, and CBCT provided discordant diagnostic impressions of cystic-appearing lesions with well-defined borders and bone expansion. These cases illustrate a diagnostic pathway in which imaging demonstrates a cyst-like appearance with benign radiological features, fine-needle aspiration biopsy reveals the absence of cystic fluid, and histopathology confirms that radiology alone cannot reliably distinguish true cysts from solid odontogenic tumors in pediatric patients. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Head and Neck Diseases)
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4 pages, 2920 KB  
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Uvular Branchial Cleft Cyst with Ectopic Parathyroid
by Anita Sejben, Tamás Lantos and István Sejben
Diagnostics 2025, 15(21), 2748; https://doi.org/10.3390/diagnostics15212748 - 30 Oct 2025
Viewed by 538
Abstract
We hereby present a case of a 22-year-old female patient with a lesion on the right side of the uvula. Histopathological assessment identified a cystic lesion with a branching configuration. The cyst lining consisted of non-keratinising stratified squamous epithelium, ciliated columnar epithelium, and [...] Read more.
We hereby present a case of a 22-year-old female patient with a lesion on the right side of the uvula. Histopathological assessment identified a cystic lesion with a branching configuration. The cyst lining consisted of non-keratinising stratified squamous epithelium, ciliated columnar epithelium, and focal areas of mucinous columnar epithelium. Within the cystic lumen, a focus of ectopic parathyroid tissue was observed. Based on these findings, a final diagnosis of a uvular branchial cleft cyst containing ectopic parathyroid tissue was established. Pathological lesions of the uvula are rare, and cystic lesions typically correspond to epidermoid cysts. This case, therefore, represents the first documented occurrence of a uvular branchial cleft cyst containing ectopic parathyroid tissue, underscoring the importance of detailed histopathological and immunohistochemical evaluation in the assessment of even small, incidentally detected uvular lesions. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Head and Neck Diseases)
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4 pages, 4209 KB  
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Orbital Neurolymphomatosis in Patient with CNS Lymphoma
by Tara Shooshani, Michael Han, Jeremiah P. Tao, Samuel J. Spiegel and Maria Del Valle Estopinal
Diagnostics 2025, 15(6), 780; https://doi.org/10.3390/diagnostics15060780 - 20 Mar 2025
Viewed by 1102
Abstract
Neurolymphomatosis (NL) is a rare manifestation of hematologic malignancies, characterized by a neoplastic infiltration of the peripheral nervous system and cranial nerves (CNs). Non-Hodgkin lymphomas (NHLs) account for 90% of NL cases, while acute leukemia represents 10% of the cases. NL can occur [...] Read more.
Neurolymphomatosis (NL) is a rare manifestation of hematologic malignancies, characterized by a neoplastic infiltration of the peripheral nervous system and cranial nerves (CNs). Non-Hodgkin lymphomas (NHLs) account for 90% of NL cases, while acute leukemia represents 10% of the cases. NL can occur as the first manifestation of a malignancy (primary), or as a relapse or progression of a previously treated disease (secondary). Herein, we report a unique case of NL involving the left orbit and CNs in a 74-year-old female with primary central nervous system (CNS) diffuse large B-cell lymphoma (DLBCL). Our patient developed secondary neurolymphomatosis involving the left orbit and CNs II, III, V, and VI, supported by clinical, radiologic, and histologic findings. The lacrimal gland enhancement was histopathologically proven to be caused by the direct spread of CNS DLBCL to the lacrimal nerve, a branch of CN V, identifying NL as one of the conditions that can affect this organ. The lacrimal gland could be considered as a more accessible biopsy site when the involvement of CN V is suspected. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Head and Neck Diseases)
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20 pages, 1045 KB  
Systematic Review
A Systematic Review: State of the Science on Diagnostics of Hidden Hearing Loss
by Sunil Shenoy, Khushi Bhatt, Yalda Yazdani, Helia Rahimian, Hamid R. Djalilian and Mehdi Abouzari
Diagnostics 2025, 15(6), 742; https://doi.org/10.3390/diagnostics15060742 - 16 Mar 2025
Cited by 3 | Viewed by 5698
Abstract
Background/Objectives: A sizeable population of patients with normal pure-tone audiograms endorse a consistent difficulty of following conversations in noisy environments. Termed hidden hearing loss (HHL), this condition evades traditional diagnostic methods for hearing loss and thus is significantly under-diagnosed and untreated. This [...] Read more.
Background/Objectives: A sizeable population of patients with normal pure-tone audiograms endorse a consistent difficulty of following conversations in noisy environments. Termed hidden hearing loss (HHL), this condition evades traditional diagnostic methods for hearing loss and thus is significantly under-diagnosed and untreated. This review sought to identify emerging methods of diagnosing HHL via measurement of its histopathologic correlate: cochlear synaptopathy, the loss of synapses in the auditory nerve pathway. Methods: A thorough literature search of multiple databases was conducted to identify studies with objective, electrophysiological measures of synaptopathy. The PRISMA protocol was employed to establish criteria for the selection of relevant literature. Results: A total of 21 studies were selected with diagnostic methods, including the auditory brainstem response (ABR), electrocochleography (EcochG), middle ear muscle reflex (MEMR), and frequency-following response (FFR). Measures that may indicate the presence of synaptopathy include a reduced wave I amplitude of ABR, reduced SP amplitude of EcochG, and abnormal MEMR, among other measurements. Behavioral measures were often performed alongside electrophysiological measures, the most common of which was the speech-in-noise assessment. Conclusions: ABR was the most common diagnostic method for assessing HHL. Though ABR, EcochG, and MEMR may be sensitive to measuring synaptopathy, more literature comparing these methods is necessary. A two-pronged approach combining behavioral and electrophysiological measures may prove useful as a criterion for diagnosing and estimating the extent of pathology in affected patients. Full article
(This article belongs to the Special Issue Pathology and Diagnosis of Head and Neck Diseases)
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