A qualitative exploration of the pathway to diagnosis and treatment of cutaneous squamous cell carcinoma of the head and neck with perineural spread.

BACKGROUND: Perineural spread (PNS) is associated with a poor prognosis in cutaneous squamous cell carcinoma of the head and neck (cSCCHN). Hence, investigating facilitators and barriers of early diagnosis and treatment of PNS in cSCCHN may improve outcomes. METHODS: Patients were recruited from an institutional database. Semi-structured interviews were conducted according to the Model of Pathways to Treatment. Thematic analysis was based on the four main intervals in the framework using a data-driven analytical method. RESULTS: Seventeen participants were interviewed. Facilitators included patients' past experiences, symptom progression, trust in healthcare professionals (HCPs), and capacity to leverage relationships. Barriers included difficult diagnoses, limited access to cancer services, lack of care coordination, and lack of awareness of PNS among primary health care providers. CONCLUSION: These findings emphasise the complexity early diagnosis and treatment of PNS. Interventions like clinical practice guidelines, education for HCPs, and telehealth could facilitate timely detection and management.

Rapidly progressive cystic lung disease in a patient with a scalp lesion.

We describe an elderly patient presenting with pneumothorax, cystic lung disease and a scalp lesion. The pneumothorax resolved after placing a chest tube and suction but recurred within a week. Progression of cystic features was also seen, and biopsies of the lung and scalp lesions were performed. Immunohistochemistry was positive for markers of endothelial cells (CD31 and ERG) and negative for markers expected to be positive in alveolar cells (keratin AE1/AE3 and TTF-1), supporting the diagnosis of metastatic angiosarcoma. Palliative chemotherapy did not prevent progression and the patient expired soon after. In describing the clinico-radiological correlation of metastatic angiosarcoma, we also briefly describe the approach to cystic lung disease. Understanding the pathophysiology of cyst formation in metastatic angiosarcoma may help clinicians to better appreciate and manage the full spectrum of cystic lung disease, especially with atypical features.

Head and Neck Fine Needle Aspiration: Current and Future Impact on Patient Care.

The discovery of multiple novel biomarkers in head and neck tumors has led to an increasing interest in utilizing head and neck cytology material as the primary specimens for testing diagnostic and prognostic biomarkers. Although human papillomavirus and programmed death ligand 1 are the most well-established biomarkers tested in cytology specimens, their utilization in cytology is limited by the absence of standardized protocols for specimen collection and fixation. This has led to a quest for innovative techniques to explore the genomic landscape in head and neck tumors and its application in cytology.

Angiosarcoma: hiding in plain sight.

Angiosarcoma is a rare, aggressive soft-tissue sarcoma of endothelial origin that necessitates early recognition, diagnosis, and treatment. The most commonly reported presentation consists of violaceous patches and plaques on the head and neck of elderly white men, with fewer reports affecting patients with Skin of Color. Most cases of angiosarcoma are idiopathic and tend to recur locally with early metastasis, conferring a poor prognosis. We report a case of an 83-year-old Fitzpatrick skin type IV man who presented with a large violaceous-to-black mamillated plaque on the frontotemporal scalp that was clinically highly suggestive of cutaneous angiosarcoma. However, unrevealing histopathology complicated our diagnostic process and delayed management. Immunohistochemistry was invaluable in determining the diagnosis of angiosarcoma. Our case highlights the aggressive nature of cutaneous angiosarcoma, necessitating close clinicopathologic correlation to confirm the diagnosis and initiate treatment.

Cervical cystic hygroma in adults: a case report.

BACKGROUNDS: Manifestation of cystic hygroma in adulthood is very rare. The rarity of cystic hygroma in adults has caused problems in its diagnosis and management and few studies have reported cystic hygroma in adults. CASE PRESENTATION: In this study, we reported a rare case with cervical cystic hygroma in adults. We report a 20-year-old Iranian male (Iranian ethnicity) with a diagnosis of right-side neck cystic hygroma and discuss the presentation, diagnosis, and clinical, radiological, and operative aspects of it. CONCLUSION: Cystic hygromas are a rare occurrence in adults. They are typically asymptomatic, rarely complicated, and can be mistaken for a cystic neck mass. This study showed that in our case, surgical resection may be a safe and effective treatment for cystic hygroma, with minimal risk of complications during the procedure.

Setting up a nurse-led 2-week-wait head and neck cancer diagnostic service.

The number of urgent '2-week-wait' referrals to hospital for people with suspected head and neck cancer being sent by primary care is constantly growing and it is becoming increasingly difficult for head and neck cancer services to meet this demand. In order for trusts to meet their Faster Diagnosis Standards, there needs to be an effective and efficient way to ensure there is capacity for patients to receive the appropriate assessments and diagnostic investigations without compromising the quality of care delivered. This article presents the proposal of introducing a nurse-led 2-week-wait clinic to meet the ever-growing demands on the service. There is discussion of the consultant-led training programme used to upskill an advanced nurse practitioner in a single-centre study, as well as explanation of the processes followed to maintain patient safety throughout the pilot project. There will also be consideration of clinical governance and discussion of how patient satisfaction with the novel service will be measured.

Diagnostic efficacy of dynamic contrast-enhanced magnetic resonance perfusion imaging in detecting local tumor recurrence in patients with head and neck malignancies after definitive treatment.

BACKGROUND AND AIM: Accurate interpretation of post-treatment imaging in head and neck malignancies poses a challenge due to treatment sequelae. Magnetic resonance (MR) perfusion helps in this scenario by evaluating the hemodynamic characteristics of lesions. This study aimed to elucidate the diagnostic efficacy of dynamic contrast-enhanced (DCE)-MR perfusion imaging in detecting recurrence in patients after they underwent definitive treatment for head and neck tumors. MATERIALS AND METHODS: Thirty patients who had received definitive curative-intent treatment for histopathology-proven malignant head and neck tumors and in whom recurrent tumor was detected on precontrast MR imaging (MRI) were accrued in the study. Patients underwent DCE-MR perfusion imaging. Time to peak (TTP), relative maximum enhancement (RME), and relative washout (RWO) ratio were calculated by using time-intensity curve (TIC). The diagnostic accuracy was compared with histopathology. RESULTS: A cut-off value of ≥125.3 for RME showed a sensitivity of 76.2% and specificity of 66.7% for differentiating post-radiation changes and recurrence. The optimal cut-off for RWO ratio was ≥-6.24 with a sensitivity of 76.2% and specificity of 55.6%. The optimal cut-off of TTP was ≤45.8 s with a sensitivity of 61.9% and specificity of 77.8%. Diagnostic accuracies of RME, RWO, and TTP were 73.3%, 70%, and 66.7%, respectively. CONCLUSIONS: DCE-MRI had significant diagnostic accuracy in detecting and differentiating recurrences. TIC analysis of high-temporal resolution DCE-MRI can provide information regarding microcirculation of tumors, and hence can be considered as an imaging modality of choice for assessment of early local tumor recurrence in head and neck tumors.

Pediatric intramuscular hemangioma in the submandibular triangle and other musculoskeletal presentations: A pediatric case series.

BACKGROUND: Intramuscular hemangiomas (IMH) account for 0.8 % or less of all benign soft tissue tumors in the general population. Due to their uncommon nature, especially in the head and neck, they are often misdiagnosed and not included in the differential diagnosis. METHODS: This study describes a case series of eleven pediatric patients with a diagnosis of IMH through a retrospective review of the electronic health records and archival records in the Department of Pathology at Children's Hospital of Colorado (CHCO). RESULTS: The index case had a unique presentation in the submandibular triangle, while the remaining ten cases are appendicular and thoracolumbar in nature. CONCLUSIONS: This case series contributes to the sparse scientific literature available regarding IMH, particularly in its head and neck presentation as relevant to otolaryngologists.

Integrated analysis of methylation and transcriptome identifies a novel risk model for diagnosis, prognosis, and immune characteristics in head and neck squamous cell carcinoma.

BACKGROUND: DNA methylation is an important epigenetic modification that plays a crucial role in the development and progression of various tumors. However, the association between methylation­driven genes and diagnosis, prognosis, and immune characteristics of head and neck squamous cell carcinoma (HNSCC) remains unclear. METHODS: We obtained transcriptome, methylation, and clinical data from HNSCC patients in TCGA database, and used MethylMix algorithm to identify methylation-driven genes. A methylation driven gene-related risk model was constructed using Lasso regression analysis, and validated using data from GEO database. Immune infiltration and immune function analysis of the expression profiles were conducted using ssGSEA. Differences in immune checkpoint-related genes were analyzed, and the efficacy of immunotherapy was evaluated using TCIA database. Finally, a series of cell functional experiments were conducted to validate the results. RESULTS: Five methylation-driven genes were identified and utilized to construct a prognostic risk model. Based on the median risk score, all patients were categorized into high-risk and low-risk groups. The K-M analysis revealed that patients in the high-risk group have a worse prognosis. Additionally, the risk model demonstrated better prognostic predictive value as indicated by ROC analysis. GSEA enrichment analysis indicated that gene sets in the high and low-risk groups were primarily enriched in pathways associated with tumor immunity and metabolism. Our subsequent investigations showed that high-risk patients exhibited more immunosuppressive phenotypes, while low-risk patients were more likely to respond positively to immunotherapy. CONCLUSION: These findings of our research have the potential to improve patient stratification, guide treatment decisions, and advance the development of personalized therapies for HNSCC.

Head and Neck Paraganglioma (HNPGL) Registry: A study protocol for prospective data collection in patients with Head and Neck Paragangliomas.

INTRODUCTION: There is a lack of comprehensive and uniform data on head and neck paragangliomas (HNPGLs), and research is challenging due to its rarity and the involvement of multiple medical specialties. To improve current research data collection, we initiated the Head and Neck Paraganglioma Registry (HNPGL Registry). The aim of the HNPGL Registry is to a) collect extensive data on all HNPGL patients through a predefined protocol, b) give insight in the long term outcomes using patient reported outcome measures (PROMs), c) create uniformity in the diagnostic and clinical management of these conditions, and thereby d) help provide content for future (randomized) research. METHODS AND ANALYSIS: The HNPGL Registry is designed as a prospective longitudinal observational registry for data collection on HNPGL patients and carriers of (likely) pathogenic variants causative of HNPGLs. All patients, regardless of the received treatment modality, can be included in the registry after informed consent is obtained. All relevant data regarding the initial presentation, diagnostics, treatment, and follow-up will be collected prospectively in an electronic case report form. In addition a survey containing the EuroQol 5D-5L (EQ-5D-5L), European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30), Modified Fatigue Impact Scale (MFIS), Short QUestionnaire to Assess Health-enhancing physical activity (SQUASH), Cancer Worry Scale (CWS) and Hospital Anxiety and Depression Scale (HADS) will be sent periodically. The registry protocol was approved by the Medical Ethical Review Board of the University Medical Center Utrecht. CONCLUSION: The HNPGL Registry data will be used to further establish the optimal management for HNPGL patients and lay the foundation for guideline recommendations and the outline of future research.

[Application value of folate receptor-positive circulating tumor cells in the diagnosis of head and neck squamous cell carcinoma].

A total of 82 patients and healthy subjects in the First Affiliated Hospital of Sun Yat-sen University from March to August 2023 were recruited. The cohort consisted of 43 patients with head and neck squamous cell carcinoma (HNSCC) and 39 non-cancer patients or healthy subjects. There were 63 males and 19 females, with a median age of 62 (46, 67) years. The levels of folate receptor-positive circulating tumor cells (FR+CTCs) in the blood of HNSCC patients and non-cancer/healthy subjects were 12.4 (8.5, 17.8) floate unit (FU)/3 ml and 5.0 (3.8, 6.6) FU/3 ml, respectively, with a statistically significant difference (P<0.001). The area under the receiver operating characteristic (ROC) curve for FR+CTCs levels was 0.937 (95%CI: 0.888-0.986, P<0.001), with a cut-off value of 7.4 FU/3 ml determined by the maximum Youden index. At this cut-off value, the sensitivity and specificity of FR+CTCs for diagnosing HNSCC were 90.70% and 89.74%, respectively. The current study suggests that FR+CTCs could be used as a liquid biopsy marker for the screening and diagnosis of HNSCC.

Is thermography an effective screening tool for differentiating benign and malignant skin lesions in the head and neck? A systematic review.

The aim of this study was to assess, through a systematic review, the status of infrared thermography (IRT) as a diagnostic tool for skin neoplasms of the head and neck region and in order to validate its effectiveness in differentiating benign and malignant lesions. A search was carried out in the LILACS, PubMed/MEDLINE, SCOPUS, Web of Science and EMBASE databases including studies published between 2004 and 2024, written in the Latin-Roman alphabet. Accuracy studies with patients aged 18 years or over presenting benign and malignant lesions in the head and neck region that evaluated the performance of IRT in differentiating these lesions were included. Lesions of mesenchymal origin and studies that did not mention histopathological diagnosis were excluded. The systematic review protocol was registered in the PROSPERO database (CRD42023416079). Reviewers independently analyzed titles, abstracts, and full-texts. After extracting data, the risk of bias of the selected studies was assessed using the QUADAS - 2 tool. Results were narratively synthesized and the certainty of evidence was measured using the GRADE approach. The search resulted in 1,587 records and three studies were included. Only one of the assessed studies used static IRT, while the other two studies used cold thermal stress. All studies had an uncertain risk of bias. In general, studies have shown wide variation in the accuracy of IRT for differentiating between malignant and benign lesions, with a low level of certainty in the evidence for both specificity and sensitivity.

Salivary exosomal microRNA profile as biomonitoring tool for diagnosis and prognosis of patients with head and neck squamous cell carcinoma: a systematic review.

OBJECTIVE: Exosomes are extracellular vesicles found in saliva and other body fluids. These vesicles range in size from 30 to 150 nm and play a crucial role in intercellular communication, transporting different biomolecules, actively targeting cells. These vesicles regulate both physiological and pathological processes within recipient cells. MicroRNAs (miRs) are transported within exosomes and are delivered to target cells where they influence signaling pathways, taking on a crucial regulatory role in oncogenesis; for example, they are implicated in progression and infiltration of various cancers, such as head and neck squamous cell carcinoma (HNSCC). MATERIAL AND METHODS: A systematic literature search based on specific keywords, according to the PRISMA guidelines, was carried out on PubMed, Web of Science, Scopus, and Google Scholar. Only original articles were selected during this review. The risk of bias was assessed by QUADAS-2. RESULTS: At the end of the selection process 9 articles were included. In these studies, 41 miRs showed differential expression between healthy subjects and patient with HNSCC. The techniques varied among studies for the extraction and analysis of exosomal miRs. We presented also salivary exosomal miRs pathways, to give insights about pathogenetic mechanisms. CONCLUSIONS: Exosomal microRNA are promising biomarkers for HNSCC detection. MiR-10b-5p, miR-486-5p, miR-24-3p, miR-412-3p, and miR-512-3p are the most promising markers applicable to diagnostics, while miR-1307-5p and miR-519c-3p resulted overexpressed and correlated to worse survival outcomes.

Paragangliomas of the Head and Neck: A Review of the Latest Diagnostic and Treatment Methods.

Background and objectives: Paragangliomas of the head and neck are rare, slow-growing neuroendocrine tumors, benign in their vast majority, but with a possibility of developing distant metastases. They show great inheritable character, and their behavior has proven to be unpredictable; therefore, they are considered malignant. Material and methods: This article aims to offer a more comprehensive presentation of the pathogenesis, epidemiology, diagnostic methods, imaging development, and treatment guidelines. We tried to bring together all the necessary data that, in our opinion, a head and neck practitioner should know when managing this type of tumor. Our main focus is on the most recent studies, with the purpose of a homogenous presentation of all current guidelines and approaches to this pathology. Results: Paragangliomas of the head and neck are still a disputed topic. One of the main reasons for that is their low incidence of 0.3 to 1 per 100,000 every year. The most frequent locations are the carotid body, the temporal bone, the jugular and mastoid foramen, and the vagal nerve. Their clinical presentation usually involves a painless lateral mass associated with symptoms such as hoarseness, hearing loss, tinnitus, and cranial nerve deficits. Up to 40% of them are inherited, mostly linked with mutations of succinate dehydrogenase complex. Imaging evaluation consists of CT and MRI, and new functional explorations such as 18F-FDA and 18F-FDG PET/CT, 18F-DOPA PET, 123I-MIBG, and 68Ga-DOTATE PET/CT. Measuring the catecholamine levels in the plasma and urine is mandatory, even though paragangliomas of the head and neck rarely display secretory behavior. Treatment mainly consists of surgery, with different approaches and techniques, but conservative management methods such as wait and scan, radiotherapy, proton therapy, and chemotherapy have proven their efficiency. The therapeutical decision lacks consensus, and current studies tend to recommend an individualized approach. Guidelines regarding long-term follow-up are still a matter of debate.

Clinical Value of Fine Needle Aspiration Cytology and Core Needle Biopsy in Head and Neck Pathology - A Nationwide Survey in Germany.

BACKGROUND/AIM: Fine-needle aspiration cytology (FNA) and core needle biopsy (CNB) of the thyroid gland, salivary glands, and lymph nodes are considered simple and rapid methods for minimally invasive tissue collection. We performed a postal survey to analyse the diagnostic value and complication rate of FNA and CNB in Germany. PATIENTS AND METHODS: A questionnaire comprising 11 questions was sent to all 161 German ENT departments in September 2015. RESULTS: The response rate was 45%. In 33 of the 73 responding clinics neither FNA nor CNB were carried out. Of the 26 clinics that provided detailed reasons, the majority (n=18) cited a lack of expertise among the collaborating pathologists. Overall, FNA was used more often, regardless of the anatomical region investigated. The study was based on a total of 36,684 FNAs and 9,624 CNBs. The rate of estimated meaningful and correct findings was 63% (10%-90%) for FNA, and 83% (50%-100%) for CNB. In eight cases (<0.001%) a potential tumor cell spread was reported. CONCLUSION: This is the first nationwide survey in Germany to investigate the utility of FNA and CNB across different localizations in the head and neck region. This study revealed comparable results to the literature regarding the diagnostic value of FNA and CNB. Cell spreading was only observed in individual cases. The appraisal of needle biopsies in the head and neck area seems to be rather inhomogeneous in Germany.

Basaloid squamous cell carcinoma clinically and radiologically masquerading as a head and neck paraganglioma: a case report and review of the literature.

BACKGROUND: This paper reports the first case of basaloid squamous cell carcinoma clinically and radiologically masquerading as a head and neck paraganglioma. CASE PRESENTATION: A 66-year-old Sinhalese male with unilateral hearing impairment and 7th-12th (excluding 11th) cranial nerve palsies was diagnosed radiologically with a head and neck paraganglioma by magnetic resonance imaging of the brain, which revealed a hypointense and hyperintense punctate mass centered at the jugular fossa with intracranial extension. The ascending pharyngeal artery, recognized as the major feeder, was embolized by percutaneous embolization following digital subtraction angiography. Gross total resection of the tumor was followed by an uneventful postoperative recovery. Combined immunohistochemistry and histopathological morphology revealed a basaloid squamous cell carcinoma, following which the patient completed radiotherapy and is at 3-month follow-up currently. CONCLUSION: This case report discusses the diagnostic pitfalls and management challenges of this rare entity on the basis of prior evidence, as well as a literature review and clinical and surgical analysis.