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2.
J Med Case Rep ; 18(1): 254, 2024 May 17.
Article En | MEDLINE | ID: mdl-38755694

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.


Head and Neck Neoplasms , Teratoma , Ultrasonography, Prenatal , Humans , Teratoma/surgery , Teratoma/diagnostic imaging , Teratoma/diagnosis , Teratoma/congenital , Female , Infant, Newborn , Pregnancy , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/surgery , Head and Neck Neoplasms/diagnostic imaging , Head and Neck Neoplasms/congenital , Head and Neck Neoplasms/pathology , Airway Obstruction/etiology , Airway Obstruction/surgery , Airway Obstruction/diagnostic imaging , Polyhydramnios
3.
Appl Clin Inform ; 15(2): 404-413, 2024 Mar.
Article En | MEDLINE | ID: mdl-38777326

OBJECTIVES: There is limited research on suicide risk screening (SRS) among head and neck cancer (HNC) patients, a population at increased risk for suicide. To address this gap, this single-site mixed methods study assessed oncology professionals' perspectives about the feasibility, acceptability, and appropriateness of an electronic SRS program that was implemented as a part of routine care for HNC patients. METHODS: Staff who assisted with SRS implementation completed (e.g., nurses, medical assistants, advanced practice providers, physicians, social workers) a one-time survey (N = 29) and interview (N = 25). Quantitative outcomes were assessed using previously validated feasibility, acceptability, and appropriateness measures. Additional qualitative data were collected to provide context for interpreting the scores. RESULTS: Nurses and medical assistants, who were directly responsible for implementing SRS, reported low feasibility, acceptability, and appropriateness, compared with other team members (e.g., physicians, social workers, advanced practice providers). Team members identified potential improvements needed to optimize SRS, such as hiring additional staff, improving staff training, providing different modalities for screening completion among individuals with disabilities, and revising the patient-reported outcomes to improve suicide risk prediction. CONCLUSION: Staff perspectives about implementing SRS as a part of routine cancer care for HNC patients varied widely. Before screening can be implemented on a larger scale for HNC and other cancer patients, additional implementation strategies may be needed that optimize workflow and reduce staff burden, such as staff training, multiple modalities for completion, and refined tools for identifying which patients are at greatest risk for suicide.


Head and Neck Neoplasms , Humans , Head and Neck Neoplasms/diagnosis , Risk Assessment/methods , Suicide , Mass Screening , Suicide Prevention , Male , Female
4.
Cell Mol Life Sci ; 81(1): 233, 2024 May 23.
Article En | MEDLINE | ID: mdl-38780775

Patients with head and neck squamous cell carcinoma (HNSCC) are at a high risk of developing recurrence and secondary cancers. This study evaluates the prognostic and surveillance utilities of circulating tumour cells (CTCs) in HNSCC. A total of 154 HNSCC patients were recruited and followed up for 4.5 years. Blood samples were collected at baseline and follow-up. CTCs were isolated using a spiral microfluid device. Recurrence and death due to cancer were assessed during the follow-up period. In patients with HNSCC, the presence of CTCs at baseline was a predictor of recurrence (OR = 8.40, p < 0.0001) and death (OR= ∞, p < 0.0001). Patients with CTCs at baseline had poor survival outcomes (p < 0.0001). Additionally, our study found that patients with CTCs in a follow-up appointment were 2.5 times more likely to experience recurrence or death from HNSCC (p < 0.05) prior to their next clinical visit. Our study highlights the prognostic and monitoring utilities of CTCs' in HNSCC patients. Early identification of CTCs facilitates precise risk assessment, guiding treatment choices and ultimately enhancing patient outcomes.


Carcinoma, Squamous Cell , Head and Neck Neoplasms , Neoplasm Recurrence, Local , Neoplastic Cells, Circulating , Squamous Cell Carcinoma of Head and Neck , Humans , Neoplastic Cells, Circulating/pathology , Neoplastic Cells, Circulating/metabolism , Male , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/blood , Head and Neck Neoplasms/diagnosis , Female , Middle Aged , Neoplasm Recurrence, Local/pathology , Squamous Cell Carcinoma of Head and Neck/pathology , Squamous Cell Carcinoma of Head and Neck/mortality , Squamous Cell Carcinoma of Head and Neck/blood , Squamous Cell Carcinoma of Head and Neck/diagnosis , Aged , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/mortality , Carcinoma, Squamous Cell/blood , Carcinoma, Squamous Cell/diagnosis , Prognosis , Adult , Follow-Up Studies
5.
BMJ Case Rep ; 17(5)2024 May 24.
Article En | MEDLINE | ID: mdl-38789269

Tumours of adipose tissue origin are relatively rare in the head and neck. Here, we report a case of an unfamiliar lipomatous lesion that involved the neck and mediastinum. A nil-comorbid man in his 40s presented with a slowly progressive anterior neck swelling of 3 years, which was diagnosed as lipoma by histopathological sampling. Computed tomography demonstrated the lesion to be involving parapharyngeal and retropharyngeal spaces with mediastinal extension. The lesion was removed by the transcervical approach. The final histology of the excised specimen, with immunohistochemistry for mouse double minute 2 (MDM2) and p16, suggested an atypical lipomatous tumour (ALT). This report accentuates the occurrence of this rare neoplasm in the neck, which often mimics lipoma clinically. Although radiology can demonstrate suggestive features, histology with MDM2 and/or p16 positivity can confirm the diagnosis of ALT as against the lipoma. A successful transcervical excision, despite the deeper extension of the lesion between the critical structures of the neck and mediastinum, demonstrates the non-infiltrating nature of the tumour.


Head and Neck Neoplasms , Lipoma , Tomography, X-Ray Computed , Humans , Male , Head and Neck Neoplasms/surgery , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/diagnostic imaging , Lipoma/surgery , Lipoma/diagnostic imaging , Lipoma/pathology , Lipoma/diagnosis , Adult , Mediastinal Neoplasms/surgery , Mediastinal Neoplasms/diagnostic imaging , Mediastinal Neoplasms/pathology , Mediastinal Neoplasms/diagnosis , Neck/pathology , Neck/diagnostic imaging , Diagnosis, Differential , Mediastinum/pathology , Mediastinum/diagnostic imaging
6.
World J Surg Oncol ; 22(1): 130, 2024 May 16.
Article En | MEDLINE | ID: mdl-38755616

BACKGROUND: Many patients with head and neck cancer (HNC) often present with advanced disease. This may result from delay in deciding to seek care, delay in reaching the healthcare facility and or delay in accessing care in the healthcare facility. We therefore set out to determine the time to definitive diagnosis and factors associated with delayed diagnosis among patients with HNC at the Uganda Cancer Institute (UCI). METHODS: A cross-sectional study was conducted at UCI, patients with HNC were recruited. An interviewer administered questionnaire was used to collect data on sociodemographic factors and clinical characteristics, including timelines in months, from symptom onset to deciding to seek care, to reaching the health care facility and to definitive diagnosis. Multivariate Poisson regression analysis was used to calculate odds ratios (ORs) for the factors of association with delayed diagnosis. RESULTS: We recruited 160 HNC patients, and 134 patients were analyzed. The median age was 49.5 years (IQR 26.5), 70% (94 of 134) were male, 48% (69 of 134) had below secondary school education, 49% (65 of 134) had a household income < 54 USD. 56% (76 of 134) were sole bread winners, 67% (89 of 134) had good access road condition to the nearest health unit and 70% (91 of 134) presented with tumor stage 4. Median time from onset of symptoms to definitive diagnosis was 8.1 months (IQR 15.1) and 65% (87 of 134) of patients had delayed diagnosis. Good access roads (aOR: 0.26, p = 0.006), secondary school education (aOR: 0.17, p = 0.038), and household income > 136 USD (aOR: 0.27, p = 0.043) were associated with lower odds of delayed diagnosis. Being the sole bread winner (aOR: 2.15, p = 0.050) increased the odds of delayed diagnosis. CONCLUSION: Most of HNC patients (65%) at UCI had delayed diagnosis. A national care pathway for individuals with suspected HNC should be established and consider rotation of Ear, Nose and Throat surgeons to underserved regions, to mitigate diagnostic delay.


Delayed Diagnosis , Head and Neck Neoplasms , Humans , Male , Delayed Diagnosis/statistics & numerical data , Female , Cross-Sectional Studies , Middle Aged , Uganda/epidemiology , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/epidemiology , Adult , Prognosis , Patient Acceptance of Health Care/statistics & numerical data , Follow-Up Studies , Surveys and Questionnaires/statistics & numerical data , Health Services Accessibility/statistics & numerical data , Time Factors , Aged
7.
J Cell Mol Med ; 28(9): e18394, 2024 May.
Article En | MEDLINE | ID: mdl-38751024

This study aims to enhance the prognosis prediction of Head and Neck Squamous Cell Carcinoma (HNSCC) by employing artificial intelligence (AI) to analyse CDKN2A gene expression from pathology images, directly correlating with patient outcomes. Our approach introduces a novel AI-driven pathomics framework, delineating a more precise relationship between CDKN2A expression and survival rates compared to previous studies. Utilizing 475 HNSCC cases from the TCGA database, we stratified patients into high-risk and low-risk groups based on CDKN2A expression thresholds. Through pathomics analysis of 271 cases with available slides, we extracted 465 distinctive features to construct a Gradient Boosting Machine (GBM) model. This model was then employed to compute Pathomics scores (PS), predicting CDKN2A expression levels with validation for accuracy and pathway association analysis. Our study demonstrates a significant correlation between higher CDKN2A expression and improved median overall survival (66.73 months for high expression vs. 42.97 months for low expression, p = 0.013), establishing CDKN2A's prognostic value. The pathomic model exhibited exceptional predictive accuracy (training AUC: 0.806; validation AUC: 0.710) and identified a strong link between higher Pathomics scores and cell cycle activation pathways. Validation through tissue microarray corroborated the predictive capacity of our model. Confirming CDKN2A as a crucial prognostic marker in HNSCC, this study advances the existing literature by implementing an AI-driven pathomics analysis for gene expression evaluation. This innovative methodology offers a cost-efficient and non-invasive alternative to traditional diagnostic procedures, potentially revolutionizing personalized medicine in oncology.


Cyclin-Dependent Kinase Inhibitor p16 , Machine Learning , Squamous Cell Carcinoma of Head and Neck , Humans , Cyclin-Dependent Kinase Inhibitor p16/genetics , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Squamous Cell Carcinoma of Head and Neck/genetics , Squamous Cell Carcinoma of Head and Neck/diagnosis , Squamous Cell Carcinoma of Head and Neck/pathology , Squamous Cell Carcinoma of Head and Neck/mortality , Prognosis , Male , Female , Gene Expression Regulation, Neoplastic , Head and Neck Neoplasms/genetics , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/pathology , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Middle Aged , Aged
8.
Laryngorhinootologie ; 103(5): 371-382, 2024 May.
Article De | MEDLINE | ID: mdl-38697084

In CUP syndrome (CUP = cancer of unknown primary) there are 1 or more metastases of a primary tumor that cannot be localized despite extensive diagnostics. CUP syndrome accounts for 5% of all human malignancies, making it one of the 10 most common forms of cancer. In addition to inflammatory lymph node enlargement and benign changes such as cervical cysts, lymph node metastases are among the most common cervical masses. Cervical CUP syndrome is a histologically confirmed cervical lymph node metastasis with an unknown primary tumor. In addition to anamnesis, clinical examination and histological confirmation, diagnostics include radiological imaging using PET-CT and panendoscopy with histological primary tumor search. Treatment options include surgical therapy with neck dissection and chemoradiotherapy.


Lymphatic Metastasis , Neoplasms, Unknown Primary , Humans , Neoplasms, Unknown Primary/therapy , Neoplasms, Unknown Primary/diagnosis , Neoplasms, Unknown Primary/pathology , Lymphatic Metastasis/pathology , Neck Dissection , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/pathology , Syndrome , Combined Modality Therapy , Positron Emission Tomography Computed Tomography , Diagnosis, Differential , Chemoradiotherapy
9.
Laryngorhinootologie ; 103(S 01): S125-S147, 2024 May.
Article En, De | MEDLINE | ID: mdl-38697145

Vascular anomalies in the head and neck area are usually rare diseases and pose a particular diagnostic and therapeutic challenge. They are divided into vascular tumours and vascular malformations. A distinction is made between benign tumours, such as infantile haemangioma, and rare malignant tumours, such as angiosarcoma. Vascular malformations are categorised as simple malformations, mixed malformations, large vessel anomalies and those associated with other anomalies. Treatment is interdisciplinary and various modalities are available. These include clinical observation, sclerotherapy, embolisation, ablative and coagulating procedures, surgical resection and systemic drug therapy. Treatment is challenging, as vascular anomalies in the head and neck region practically always affect function and aesthetics. A better understanding of the genetic and molecular biological basis of vascular anomalies has recently led to clinical research into targeted drug therapies. This article provides an up-to-date overview of the diagnosis, clinic and treatment of vascular anomalies in the head and neck region.


Neck , Vascular Malformations , Humans , Vascular Malformations/therapy , Vascular Malformations/diagnosis , Neck/blood supply , Head/blood supply , Sclerotherapy , Interdisciplinary Communication , Combined Modality Therapy , Embolization, Therapeutic , Patient Care Team , Intersectoral Collaboration , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/diagnosis , Hemangioma/therapy , Hemangioma/diagnosis
10.
Sci Rep ; 14(1): 12234, 2024 05 28.
Article En | MEDLINE | ID: mdl-38806556

Prolyl 4-hydroxylases (P4Hs) are a family of key modifying enzymes in collagen synthesis. P4Hs have been confirmed to be closely associated with tumor occurrence and development. However, the expression of P4Hs in head and neck cancer (HNSC) as well as its relationship with prognosis and tumor immunity infiltration has not yet been analyzed. We investigated the transcriptional expression, survival data, and immune infiltration of P4Hs in patients with HNSC from multiple databases. P4H1-3 expression was significantly higher in HNSC tumor tissues than in normal tissues. Moreover, P4HA1 and P4HA2 were associated with tumor stage, patient prognosis, and immune cell infiltration. P4HA3 was related to patient prognosis and immune cell infiltration. Correlation experiments confirmed that P4HA1 may serve as a prognosis biomarker and plays a role in the progression of nasopharyngeal carcinoma. These findings suggest that P4HA1-3 may be a novel biomarker for the prognosis and treatment of HNSC, which is expected to support the development of new therapies for patients with head and neck tumors and improve patient outcomes.


Biomarkers, Tumor , Head and Neck Neoplasms , Immunotherapy , Procollagen-Proline Dioxygenase , Humans , Biomarkers, Tumor/metabolism , Prognosis , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/metabolism , Head and Neck Neoplasms/immunology , Head and Neck Neoplasms/diagnosis , Immunotherapy/methods , Procollagen-Proline Dioxygenase/metabolism , Procollagen-Proline Dioxygenase/genetics , Gene Expression Regulation, Neoplastic , Female , Male , Nasopharyngeal Carcinoma/therapy , Nasopharyngeal Carcinoma/immunology , Nasopharyngeal Carcinoma/diagnosis , Nasopharyngeal Carcinoma/pathology , Nasopharyngeal Carcinoma/genetics , Nasopharyngeal Carcinoma/metabolism , Nasopharyngeal Carcinoma/mortality
11.
Arch Dermatol Res ; 316(5): 120, 2024 Apr 16.
Article En | MEDLINE | ID: mdl-38625390

Sentinel lymph node biopsy (SLNB) has gained considerable attention in the management of head and neck cutaneous squamous cell carcinoma (HNcSCC). The aim of this study was to compare the oncologic outcomes between observation and SLNB in cN0 high-risk HNcSCC patients. We retrospectively enrolled patients from the SEER database and evaluated the impact of observation versus SLNB on disease-specific survival (DSS) and overall survival (OS) using a Propensity Score Matching (PSM) analysis. A total of 9804 patients were included, with 1169 cases treated by SLNB. Successful retrieval of the sentinel lymph node was achieved in 1130 procedures. After PSM and subsequent multivariate analysis, SLNB was found to be an independent predictor for improved DSS, with a hazard ratio of 0.70 (95% confidence interval: 0.56-0.86). In patients presenting with two or three high-risk factors, SLNB was associated with better DSS (p = 0.021 and p = 0.044), but similar OS (p = 0.506 and p = 0.801) when compared to observation. However, in patients exhibiting four high-risk factors, SLNB demonstrated significantly improved DSS (p = 0.040) and OS (p = 0.028) compared to observation. Our findings suggest that SLNB is a highly feasible technique in HNcSCC and provides significant survival benefits. It is strongly recommended in patients with two or more high-risk factors, as it can help guide treatment decisions and improve patient outcomes.


Carcinoma, Squamous Cell , Head and Neck Neoplasms , Skin Neoplasms , Humans , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/surgery , Sentinel Lymph Node Biopsy , Squamous Cell Carcinoma of Head and Neck , Propensity Score , Retrospective Studies , Skin Neoplasms/diagnosis , Skin Neoplasms/surgery , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/surgery
12.
Front Immunol ; 15: 1337129, 2024.
Article En | MEDLINE | ID: mdl-38650924

Head and neck squamous cell carcinoma (HNSCC) rank among the most prevalent types of head and neck cancer globally. Unfortunately, a significant number of patients receive their diagnoses at advanced stages, limiting the effectiveness of available treatments. The tumor microenvironment (TME) is a pivotal player in HNSCC development, with macrophages holding a central role. Macrophages demonstrate diverse functions within the TME, both inhibiting and facilitating cancer progression. M1 macrophages are characterized by their phagocytic and immune activities, while M2 macrophages tend to promote inflammation and immunosuppression. Striking a balance between these different polarization states is essential for maintaining overall health, yet in the context of tumors, M2 macrophages typically prevail. Recent efforts have been directed at controlling the polarization states of macrophages, paving the way for novel approaches to cancer treatment. Various drugs and immunotherapies, including innovative treatments based on macrophages like engineering macrophages and CAR-M cell therapy, have been developed. This article provides an overview of the roles played by macrophages in HNSCC, explores potential therapeutic targets and strategies, and presents fresh perspectives on the future of HNSCC treatment.


Head and Neck Neoplasms , Macrophages , Squamous Cell Carcinoma of Head and Neck , Tumor Microenvironment , Humans , Squamous Cell Carcinoma of Head and Neck/therapy , Squamous Cell Carcinoma of Head and Neck/immunology , Squamous Cell Carcinoma of Head and Neck/diagnosis , Tumor Microenvironment/immunology , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/immunology , Macrophages/immunology , Animals , Immunotherapy/methods , Cell Plasticity/immunology
13.
Head Neck Pathol ; 18(1): 32, 2024 Apr 24.
Article En | MEDLINE | ID: mdl-38658429

Primary meningioma at extracranial head and neck sites is uncommon. Since fine needle aspiration (FNA) is often the first line diagnostic modality for the evaluation of masses in the head and neck, extracranial meningiomas can create a significant diagnostic pitfall for FNA. We report a case of meningioma with rhabdoid features and BAP1 loss in a 26-year-old woman, presenting as a large neck mass along the carotid sheath. FNA biopsy of the mass demonstrated a highly cellular specimen with clusters of uniform, epithelioid cells with round to ovoid nuclei and moderate nuclear to cytoplasmic ratio. An extensive immunohistochemical panel performed on cell block sections showed that the tumor cells were weakly EMA positive, progesterone receptor was focally positive, and SSTR2A was diffuse and strongly positive. BAP1 immunohistochemistry showed a diffuse loss of expression in the tumor cells. After the cytologic diagnosis of meningioma, a tissue biopsy was performed, and the diagnosis of meningioma with rhabdoid features and BAP1 loss was confirmed. We also perform a literature review of meningioma cases presenting as a neck mass and evaluated by FNA. Our case highlights the significant diagnostic challenges that can be caused by extracranial meningiomas on FNA and the importance of ancillary studies to avoid diagnostic pitfalls.


Meningeal Neoplasms , Meningioma , Rhabdoid Tumor , Humans , Female , Meningioma/pathology , Meningioma/diagnosis , Adult , Biopsy, Fine-Needle , Meningeal Neoplasms/pathology , Meningeal Neoplasms/diagnosis , Rhabdoid Tumor/pathology , Rhabdoid Tumor/diagnosis , Biomarkers, Tumor/analysis , Tumor Suppressor Proteins , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/diagnosis , Ubiquitin Thiolesterase/analysis
14.
Aging (Albany NY) ; 16(8): 6796-6808, 2024 Apr 05.
Article En | MEDLINE | ID: mdl-38604163

OBJECTIVE: Primary extranodal non-Hodgkin's lymphoma (PE-NHL) of the head and neck is the second common site of extranodal lymphoma, accounting for approximately one-third of all extranodal non-Hodgkin's lymphoma (E-NHL). However, in recent years, large-scale PE-NHL case studies in China and worldwide are rare and not comprehensive enough. This work analyzed the clinical manifestations, pathological features, immunophenotypes and diagnosis of PE-NHL, as well as the factors affecting the treatment and prognosis. METHODS: A retrospective study was performed on 74 patients who were diagnosed with head and neck PE-NHL and treated for the first time. The clinical manifestations, pathological features, and immunophenotypes were summarized, and the factors related to the treatment and prognosis were analyzed. RESULTS: The most common site of this disease was the Waldeyer's ring, followed by the nasal cavity. Diffuse large B-cell lymphoma was the most common type, followed by extranodal NK T-cell lymphoma nasal type. The 1-year, 2-year, and 5-year progression-free survival (PFS) rates were 76.4%, 67.9%, and 59.3%. The 1-year, 2-year, and 5-year overall survival (OS) rates were 89.4%, 85.6%, and 63.2%. ECOG score ≥ 2, Ann Arbor stage III or IV and IPI risk stratification identifying patients as the high-risk group were independent risk factors affecting the OS of patients with PE-NHL of the head and neck. CONCLUSIONS: The most common site of PE-NHL in these Chinese patients was the Waldeyer's ring, but the incidence in the nasal cavity was higher than that reported in Western countries. Radiotherapy combined with chemotherapy had better efficacy than chemotherapy alone, and the prognosis depended on the ECOG score and clinical stage. IPI had a better prognostic value in patients in the high-risk group of head and neck PE-NHL.


Head and Neck Neoplasms , Lymphoma, Non-Hodgkin , Humans , Male , Female , Middle Aged , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/therapy , Head and Neck Neoplasms/diagnosis , Prognosis , Adult , Retrospective Studies , Aged , Lymphoma, Non-Hodgkin/pathology , Lymphoma, Non-Hodgkin/mortality , Lymphoma, Non-Hodgkin/diagnosis , Young Adult , Adolescent , China/epidemiology
15.
Oral Oncol ; 152: 106809, 2024 May.
Article En | MEDLINE | ID: mdl-38621326

OBJECTIVES: Blood-based multi-cancer early detection (MCED) tests are now commercially available. However, there are currently no consensus guidelines available for head and neck cancer (HNC) providers to direct work up or surveillance for patients with a positive MCED test. We seek to describe cases of patients with positive MCED tests suggesting HNC and provide insights for their evaluation. METHODS: Retrospective chart review of patients referred to Otolaryngology with an MCED result suggesting HNC. Patients enrolled in prospective MCED clinical trials were excluded. Cancer diagnoses were confirmed via frozen-section pathology. RESULTS: Five patients were included (mean age: 69.2 years, range 50-87; 4 male) with MCED-identified-high-risk for HNC or lymphoma. Only patient was symptomatic. After physical exam and follow-up head and neck imaging, circulating tumor HPV DNA testing, two patients were diagnosed with p16 + oropharyngeal squamous cell carcinomas and underwent appropriate therapy. A third patient had no evidence of head and neck cancer but was diagnosed with sarcoma of the thigh. The remaining two patients had no evidence of malignancy after in-depth workup. CONCLUSIONS: In this retrospective study, 2 of 5 patients referred to Otolaryngology with a positive MCED result were diagnosed with HPV + oropharyngeal squamous cell carcinoma. We recommend that positive HNC MCED work up include thorough head and neck examination with flexible laryngoscopy and focused CT or MRI imaging. Given the potential for inaccurate MCED tissue of origin classification, PET/CT may be useful in specific situations. For a patient with no cancer identified, development of clear guidelines is warranted.


Early Detection of Cancer , Head and Neck Neoplasms , Humans , Male , Aged , Middle Aged , Female , Early Detection of Cancer/methods , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/surgery , Head and Neck Neoplasms/pathology , Aged, 80 and over , Retrospective Studies , Referral and Consultation
16.
J Stomatol Oral Maxillofac Surg ; 125(3S): 101811, 2024 Jun.
Article En | MEDLINE | ID: mdl-38432483

BACKGROUND/PURPOSE: Head and neck squamous cell carcinoma (HNSCC) is the sixth leading cause of cancer-related death worldwide and contributes significantly to the burden of disease in South Asia, partially due to the lack of effective screening strategies. Identifying essential biomarkers is crucial for improved prognosis and treatment. This study investigates the potential of SERPINH1 as a prognostic marker in HNSCC, highlighting its significance amidst the molecular complexity. METHODS: The Cancer Genome Atlas HNSCC cohort, comprised of 520 tumors and 44 normal tissues, was analyzed using cBioportal, UALCAN, and Protein atlas tools. Expression patterns, survival outcomes, and clinical correlations of SERPINH1 were evaluated. In-depth analyses involved oral squamous cell carcinoma (OSCC) patient samples, protein expression, and functional exploration using various in-silico tools. RESULTS: SERPINH1 exhibited significant alteration and upregulation in HNSCC and OSCC, indicating its pan-cancer potential. Immunohistochemistry confirmed its overexpression in primary HNSCC tumors. Association analyses linked altered SERPINH1 levels with tumor stage, grade, metastasis, human papillomavirus (HPV) status, and patient prognosis. Functional analyses unveiled SERPINH1's involvement in critical cellular pathways and interactions with various proteins. CONCLUSION: The significant alteration of SERPINH1 associated with upregulated expression in HNSCC and OSCC positions it as a promising diagnostic and prognostic marker. Further investigations are warranted to elucidate the underlying molecular mechanisms, paving the way for targeted therapeutic interventions and continued exploration of various malignancies.


Biomarkers, Tumor , HSP47 Heat-Shock Proteins , Head and Neck Neoplasms , Squamous Cell Carcinoma of Head and Neck , Humans , Squamous Cell Carcinoma of Head and Neck/pathology , Squamous Cell Carcinoma of Head and Neck/diagnosis , Squamous Cell Carcinoma of Head and Neck/metabolism , Biomarkers, Tumor/metabolism , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Male , Female , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/metabolism , Head and Neck Neoplasms/diagnosis , Prognosis , HSP47 Heat-Shock Proteins/metabolism , HSP47 Heat-Shock Proteins/genetics , Middle Aged , Up-Regulation , Gene Expression Regulation, Neoplastic , Immunohistochemistry , Aged , Neoplasm Staging
17.
Am J Otolaryngol ; 45(3): 104243, 2024.
Article En | MEDLINE | ID: mdl-38442460

PURPOSE: To compare human papillomavirus (HPV) testing, prevalence, and association with prognosis between head and neck squamous cell carcinoma (HNSCC) subsites. MATERIALS AND METHODS: This study utilized the National Cancer Database (NCDB) to identify patients diagnosed with HNSCC between 2010 and 2017. Rates of HPV testing, HPV-positivity, and changes in these rates over time were measured by subsite. The impact of HPV-positivity on overall survival across six head and neck subsites was assessed using multivariable-adjusted Cox proportional hazards analysis. RESULTS: A total of 121,550 patients were included. Of this cohort, 87,575 (72.1%) were tested for HPV, with the oropharynx (55,049/64,158; 85.8%) displaying the highest rates of testing and the sinonasal tract (1519/2853; 53.2%) displaying the lowest testing rates. Of the 86,136 with a definitive result, 46,878 (54.4%) were HPV-positive, with the oropharynx (40,313/54,205; 74.4%) displaying the highest rates of HPV-positivity and the oral cavity (1818/11,505; 15.8%) displaying the lowest. HPV-positive malignancy was associated with significantly improved adjusted overall survival in the oropharynx (HR = 0.42 [95% CI: 0.43-0.47]), oral cavity (HR = 0.86 [95% CI: 0.79-0.95]), sinonasal tract (HR = 0.63 [95% CI: 0.48-0.83]), larynx (HR = 0.78 [95% CI: 0.71-0.87]), and hypopharynx (HR = 0.56 [95% CI: 0.48-0.66]), but not the nasopharynx (HR = 0.93 [95% CI: 0.77-1.14]). CONCLUSION: HPV testing rates were significantly lower in non-oropharyngeal subsites. This is relevant as HPV-associated disease displayed significantly improved overall survival in both the oropharynx and four of five non-oropharyngeal subsites. While validation with prospective studies is necessary, these findings may warrant HPV testing in all HNSCC subsites.


Databases, Factual , Head and Neck Neoplasms , Papillomavirus Infections , Squamous Cell Carcinoma of Head and Neck , Humans , Male , Female , Middle Aged , Prognosis , Aged , Squamous Cell Carcinoma of Head and Neck/virology , Squamous Cell Carcinoma of Head and Neck/mortality , Squamous Cell Carcinoma of Head and Neck/epidemiology , Squamous Cell Carcinoma of Head and Neck/diagnosis , Prevalence , Papillomavirus Infections/epidemiology , Papillomavirus Infections/diagnosis , Papillomavirus Infections/virology , Head and Neck Neoplasms/virology , Head and Neck Neoplasms/epidemiology , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/diagnosis , Papillomaviridae/isolation & purification , United States/epidemiology , Adult , Survival Rate , Human Papillomavirus Viruses
18.
Sci Rep ; 14(1): 7500, 2024 03 29.
Article En | MEDLINE | ID: mdl-38553620

Head and neck squamous cell carcinoma (HNSCC) is a prevalent and prognostically challenging cancer worldwide. The role of long non-coding RNAs (lncRNAs) in cancer regulation is progressively being understood. This study aims to identify lncRNAs with diagnostic potential as biomarkers for HNSCC. Statistical analysis was performed on expression data from the Cancer Genome Atlas (TCGA) database to identify potential lncRNAs associated with HNSCC. Four selected lncRNAs were validated using real-time quantitative reverse transcription polymerase chain reaction and correlated with clinical factors. Functional roles were further investigated. A total of 488 differentially expressed lncRNAs were identified in TCGA-HNSC. After rigorous evaluation based on p-values, survival analysis, and ROC analysis, 24 lncRNAs were prioritized for additional investigation. LINC00460, LINC00941, CTC-241F20.4, and RP11-357H14.17 were established as candidate diagnostic biomarkers. These lncRNAs exhibited elevated expression in HNSCC tissues and were associated with poor prognosis. Combining them showed high diagnostic accuracy. Notably, LINC00460 and CTC-241F20.4 demonstrated a significant elevation in the advanced stages of HNSCC. We constructed an lncRNA-mRNA regulatory network, and the array of significant regulatory pathways identified included focal adhesion, regulation of epithelial cell migration, and others. Additionally, these lncRNAs were found to influence immune responses by modulating immune cell infiltration in the HNSCC microenvironment. Our research indicates that LINC00460, LINC00941, RP11-357H14.17, and CTC-241F20.4 may have diagnostic and prognostic importance in HNSCC. Furthermore, we have gained insights into their potential functional roles, particularly about immune responses and interactions in the microenvironment.


Head and Neck Neoplasms , RNA, Long Noncoding , Humans , Squamous Cell Carcinoma of Head and Neck/diagnosis , Squamous Cell Carcinoma of Head and Neck/genetics , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/genetics , Survival Analysis , Biomarkers, Tumor/genetics , Prognosis , Tumor Microenvironment
19.
JAMA Otolaryngol Head Neck Surg ; 150(4): 351-352, 2024 Apr 01.
Article En | MEDLINE | ID: mdl-38451503

A 23-year-old male patient sought evaluation at the vascular thyroid surgery clinic for a large neck tumor that appeared abruptly 10 days prior. What is your diagnosis?


Head and Neck Neoplasms , Humans , Head and Neck Neoplasms/complications , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/surgery
20.
Cancer Rep (Hoboken) ; 7(3): e2045, 2024 Mar.
Article En | MEDLINE | ID: mdl-38522008

BACKGROUND: Precision healthcare has entered a new era because of the developments in personalized medicine, especially in the diagnosis and treatment of head and neck squamous cell carcinoma (HNSCC). This paper explores the dynamic landscape of personalized medicine as applied to HNSCC, encompassing both current developments and future prospects. RECENT FINDINGS: The integration of personalized medicine strategies into HNSCC diagnosis is driven by the utilization of genetic data and biomarkers. Epigenetic biomarkers, which reflect modifications to DNA that can influence gene expression, have emerged as valuable indicators for early detection and risk assessment. Treatment approaches within the personalized medicine framework are equally promising. Immunotherapy, gene silencing, and editing techniques, including RNA interference and CRISPR/Cas9, offer innovative means to modulate gene expression and correct genetic aberrations driving HNSCC. The integration of stem cell research with personalized medicine presents opportunities for tailored regenerative approaches. The synergy between personalized medicine and technological advancements is exemplified by artificial intelligence (AI) and machine learning (ML) applications. These tools empower clinicians to analyze vast datasets, predict patient responses, and optimize treatment strategies with unprecedented accuracy. CONCLUSION: The developments and prospects of personalized medicine in HNSCC diagnosis and treatment offer a transformative approach to managing this complex malignancy. By harnessing genetic insights, biomarkers, immunotherapy, gene editing, stem cell therapies, and advanced technologies like AI and ML, personalized medicine holds the key to enhancing patient outcomes and ushering in a new era of precision oncology.


Head and Neck Neoplasms , Precision Medicine , Humans , Squamous Cell Carcinoma of Head and Neck/diagnosis , Squamous Cell Carcinoma of Head and Neck/genetics , Squamous Cell Carcinoma of Head and Neck/therapy , Artificial Intelligence , Head and Neck Neoplasms/diagnosis , Head and Neck Neoplasms/genetics , Head and Neck Neoplasms/therapy , Biomarkers
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