Updates in head and neck cytopathology: Insights from European Congress of Pathology Short Course.

Cytological specimens play a pivotal role in head and neck nodule/mass work up and diagnoses. The specimens´ importance has grown with the onset of personalized medicine and the routine use of molecular markers in the diagnostic work up. The Updates in Head and Neck Cytopathology Short Course ran during the 35th European Congress of Pathology held in Dublin, Ireland, in 2023 and brought together experts in cytopathology, pathology, and related fields to share their expertise and experience in the field of head and neck cytopathology and its future directions. Topics such as a one-stop clinic, the Milan System for Reporting Salivary Gland Cytopathology, next generation sequencing, and human papilloma virus detection in the head and neck area were covered during the short course. These topics are briefly summarized in the present review.

Water soluble swallow for leak detection after total laryngectomy post radiotherapy.

AIM: Pharyngeal leak (PL) and pharyngocutaneous fistula (PCF) are serious complications following total laryngectomy and their incidence is higher in the salvage setting. The aim of this study is to describe the accuracy of water soluble swallow (WSS) to rule out salivary postoperative leak after salvage total laryngectomy (STL) to expedite start of oral intake. MATERIAL AND METHODS: Retrospective study including patients undergoing STL between 2008 and 2021 at Guy's Hospital. WSS was routinely performed within 15 days post operation. RESULTS: Sixty-six patients underwent STL. Nine developed clinically diagnosed PCF; one died before having WSS. Fifty-six patients underwent WSS post STL. WSS was performed within 15 days after STL when no postoperative complications occurred (76.8%). Among patients undergoing WSS with no clinical suspicion for fistula (56), PL was identified in 15 cases (26.8%). They were managed conservatively; PCF was avoided in 7(46.7%) cases. Three patients (7.3%) developed PCF after having started oral intake with a negative WSS. These three cases were further analysed, 2 cases where recorded at the beginning of the studied period when less experience was available possibly leading to incorrect results. Sensitivity and negative predictive value (NPV) for fistula prediction were 72.7% and 92.7%, respectively. CONCLUSION: Taking into account the high NPV of WSS, it is safe to start oral intake after negative WSS. Further studies to evaluate its accuracy earlier on after SLT are justified taking into account the results and the impact that delayed feeding has on patient's quality of life.

Consensus statement on the management of incidentally discovered FDG avid thyroid nodules in patients being investigated for other cancers.

With the widespread use of 18F-fluorodeoxyglucose positron emission tomography (FDG PET/CT) in the investigation and staging of cancers, incidental discovery of FDG-avid thyroid nodules is becoming increasingly common, with a reported incidence in the range 1%-4% of FDG PET/CT scans. The risk of malignancy in an incidentally discovered FDG avid thyroid nodule is not clear due to selection bias in reported retrospective series but is likely to be less than 15%. Even in cases where the nodule is found to be malignant, the majority will be differentiated thyroid cancers with an excellent prognosis even without treatment. If, due to index cancer diagnosis, age and co-morbidities, it is unlikely that the patient will survive 5 years, further investigation of an incidental FDG avid thyroid nodule is unlikely to be warranted. We provide a consensus statement on the circumstances in which further investigation of FDG avid thyroid nodules with ultrasound and fine needle aspiration might be appropriate.

Imaging of human papilloma virus associated oropharyngeal squamous cell carcinoma and its impact on diagnosis, prognostication, and response assessment.

The clinical behaviour and outcomes of patients with oropharyngeal cancer (OPC) may be dichotomised according to their association with human papilloma virus (HPV) infection. Patients with HPV-associated disease (HPV+OPC) have a distinct demographic profile, clinical phenotype and demonstrate considerably better responses to chemoradiotherapy. This has led to a reappraisal of staging and treatment strategies for HPV+OPC, which are underpinned by radiological data. Structural modalities, such as CT and MRI can provide accurate staging information. These can be combined with ultrasound-guided tissue sampling and functional techniques (such as diffusion-weighted MRI and 18F-fludeoxyglucose positron emission tomography-CT) to monitor response to treatment, derive prognostic information, and to identify individuals who might benefit from intensification or deintensification strategies. Furthermore, advanced MRI techniques, such as intravoxel incoherent motion and perfusion MRI as well as application of artificial intelligence and radiomic techniques, have shown promise in treatment response monitoring and prognostication. The following review will consider the contemporary role and knowledge on imaging in HPV+OPC.

Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

OBJECTIVE: Succinate dehydrogenase subunit (SDHx) pathogenic variants predispose to phaeochromocytoma and paraganglioma (PPGL). Lifelong surveillance is recommended for all patients to enable prompt detection and treatment. There is currently limited evidence for optimal surveillance strategies in hereditary PPGL. We aim to detail the clinical presentation of PPGL in our cohort of non-index SDHB and SDHD pathogenic variant carriers. METHODS: Retrospective analysis of medical and genetic records from a single tertiary referral centre identified SDHB or SDHD pathogenic variants in 74 non-index cases (56 SDHB and 18 SDHD). Surveillance screening for asymptomatic relatives consisted of annual plasma metanephrine measurement and whole-body MRI with contrast at 3-5 yearly intervals. RESULTS: Twenty-three out of 74 non-index patients (10 SDHB and 13 SDHD) were diagnosed with PPGL, 17 patients through surveillance screening (24 tumours in total) and 6 diagnosed prior to commencement of cascade screening with symptomatic presentation. MRI with contrast identified PPGL in 22/24 screen-detected tumours and 5/24 tumours had elevated plasma metanephrine levels. Penetrance in non-index family members was 15.2 and 47.2% for SDHB carriers and 71.6 and 78.7% for SDHD carriers at age of 50 and 70 years, respectively. CONCLUSION: Surveillance screening with combined biochemical testing and imaging enables early detection of PPGL in asymptomatic relatives with SDHx pathogenic variants. The presence of disease at first screen was significant in our cohort and hence further multi-centre long-term data are needed to inform counselling of family members undergoing lifelong surveillance.

A Rare Case of Orbital Cellulitis with Progressive Calvarial Osteomyelitis.

Orbital cellulitis is a potentially sight and life-threatening complication of acute sinusitis, and the association with osteomyelitis is rare in the era of antibiotic-use. A 13-year-old girl presented with coryzal symptoms and severe headache, with a CT head being consistent with a diagnosis of pansinusitis and orbital cellulitis with abscess formation. She proceeded to have surgical drainage through a combined endoscopic and external approach to intraorbital abscess drainage with frontal trephine. She was also diagnosed with progressive calvarial osteomyelitis involving the right frontal bone, treated with a prolonged course of intravenous antibiotics. Our case highlights the importance of a high index of suspicion for complications of sinusitis. Multimodal imaging is essential to establish the extent of infection, and a multi-disciplinary approach is integral to manage this rare complication.

Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD.

We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants in both NF1 and SDHD genes. The proband is a man with known familial NF1 disease, diagnosed clinically in childhood. Multiple head and neck paragangliomas (HNPGL) were found during investigations for acute left sided neurological symptoms, in the region of his known plexiform neurofibroma. He was referred for genetic counselling. He underwent surgery to remove a left carotid body tumor (CBT). A pheochromocytoma and paraganglioma gene panel was tested. Blood and HNPGL tumor DNA were analyzed by whole exome sequencing. In addition to the NF1 truncating variant c.5107delA, p.(Ser1703AlafsTer7), the SDHD truncating pathogenic variant c.3G > A, p.(Met1?) was found. Tumor sequencing showed no LOH of SDHD or NF1, but monoallelic loss of 11p15 and 11q12.2-q12.3 was observed. Co-occurrence of pathogenic variants in multiple cancer susceptibility genes is rare but possible, identified by the increased use of panel testing. This is the first description of a patient presenting with NF1 and SDHD dual pathology, with HNPGL development due to SDHD. This case illustrates the central role of genetic sequencing in PPGLs and the strong genotype-phenotype correlations of different genes.

Imaging in trauma of the facial skeleton and soft tissues of the neck.

Trauma to the face and neck is a frequent reason for emergency department attendance. Imaging is invaluable in the characterisation of such injuries, enabling delineation of fracture patterns as well as identification of vascular and other soft tissue injuries. It may also be used to prevent long-term mortality and morbidity and provide a roadmap for surgical intervention so that form and function may be restored. This article gives a pictorial review of the imaging of craniofacial trauma, stratified according to the thirds of the face, followed by a review of blunt and penetrating trauma of the neck. It discusses appropriate imaging modalities for each trauma category, describes major patterns of craniofacial trauma on cross-sectional imaging and identifies clinically relevant imaging features that should trigger subspecialist review or be of relevance to pre-surgical planning. It starts with the upper third comprising frontal sinus fractures before describing the component fractures of the middle third (including nasal, zygomaticomaxillary and orbital fractures) and then focusing on the lower third (specifically mandibular and dentoalveolar fractures). The article concludes with a review of soft tissue injuries of the neck, particularly penetrating, blunt and laryngeal trauma.

Imaging Soft-tissue Sarcomas of the Head and Neck: A Tertiary Soft-tissue Sarcoma Unit Experience.

BACKGROUND/AIM: To describe imaging features of head and neck soft-tissue sarcomas. PATIENTS AND METHODS: Patients with a diagnosis of head and neck sarcoma between 2011 and 2015 were reviewed. RESULTS: There were a total of 62 patients (24 female; median age=60 years). Most common sarcomas were angiosarcoma, undifferentiated pleomorphic sarcoma and sarcoma not otherwise specified. They were most commonly located in cranial and neck superficial soft tissues. Average tumour size at presentation was 45 mm. One patient had metastasis at presentation (rhabdomyosarcoma); two had nodal disease (rhabdomyosarcoma and angiosarcoma) and two tumours contained calcification (chondrosarcoma and synovial sarcoma). Four arose after prior radiotherapy. CONCLUSION: Unlike the more common diagnosis of squamous cell carcinoma, the majority of head and neck sarcomas present as large, solitary, superficial masses without lymph node enlargement. Identification of these features on imaging should raise suspicion of a sarcoma diagnosis, particularly in the setting of previous irradiation or genetic susceptibility.

Recent advances in MRI of the head and neck, skull base and cranial nerves: new and evolving sequences, analyses and clinical applications.

MRI is an invaluable diagnostic tool in the investigation and management of patients with pathology of the head and neck. However, numerous technical challenges exist, owing to a combination of fine anatomical detail, complex geometry (that is subject to frequent motion) and susceptibility effects from both endogenous structures and exogenous implants. Over recent years, there have been rapid developments in several aspects of head and neck imaging including higher resolution, isotropic 3D sequences, diffusion-weighted and diffusion-tensor imaging as well as permeability and perfusion imaging. These have led to improvements in anatomic, dynamic and functional imaging. Further developments using contrast-enhanced 3D FLAIR for the delineation of endolymphatic structures and black bone imaging for osseous structures are opening new diagnostic avenues. Furthermore, technical advances in compressed sensing and metal artefact reduction have the capacity to improve imaging speed and quality, respectively. This review explores novel and evolving MRI sequences that can be employed to evaluate diseases of the head and neck, including the skull base.

Skull base ligamentous mineralisation: evaluation using computed tomography and a review of the clinical relevance.

OBJECTIVES: To determine the frequency, morphologic and demographic characteristics, and clinical relevance of the mineralisation of six skull base ligaments (interclinoid, caroticoclinoid, petrosphenoid, posterior petroclinoid, pterygospinous, and pterygoalar). METHODS: This is a retrospective review of 240 CT scans of the paranasal sinuses (ages 6-80 years). A limited systematic review was performed primarily using Embase and Medline databases. RESULTS: Ligamentous mineralisation was well delineated on CT and occurred at ≥ 1 location in 58.3% of patients. There was a nonsignificant trend towards a greater incidence with advancing age. The interclinoid and posterior petroclinoid ligaments were most commonly mineralised (22.1% and 18.3%, respectively); the petrosphenoid and pterygoalar ligaments were least frequently mineralised (10.8% and 6.3%, respectively). The mean age of patients with posterior petroclinoid mineralisation was significantly greater than those with interclinoid and petrosphenoid mineralisation and was not seen in patients aged 6-20 years. The literature review highlighted the clinically relevant potential for mineralised ligaments to cause barriers to surgical access (e.g. to the foramen ovale), increase the risk of neurovascular injury during surgery at the skull base (e.g. during anterior clinoidectomy), and predispose to neural impingement. CONCLUSIONS: Skull base ligamentous mineralisation is commonly encountered on CT imaging. Given the potentially significant clinical implications, an understanding of the morphological appearances is of importance to those planning interventions at the skull base. To the authors' knowledge, this study is the first to comprehensively evaluate such a wide range of skull base ligaments using CT. For some ligaments, the incidence on CT has not been previously described.

Temporal Bone Tumors: An Imaging Update.

In their variety, temporal bone tumors mirror the complexity of the structure from which they arise. They include more familiar lesions, such as vestibular schwannomas and paragangliomas, and also rarer neoplasms, such as nonvestibular schwannomas, sarcomas, giant cell tumors, Schneiderian papillomas, and endolymphatic sac tumors. Diagnostic imaging is invaluable in evaluating such lesions because they are typically challenging to access surgically and monitor clinically. The ability to differentiate tumors from benign ('don't touch') or indolent lesions can prevent unnecessary morbidity. This article reviews a range of temporal bone neoplasms, focusing on imaging approaches and characteristic imaging findings.

SPECT/CT-Guided Ultrasound for Parathyroid Adenoma Localization: A 1-Stop Approach.

Our rationale was to evaluate the accuracy of 1-stop (single patient-attendance) SPECT/CT-guided ultrasound in the localization of parathyroid adenomata. Secondary aims included analyzing the effect of multiple parathyroid adenomata and concurrent thyroid disease on sensitivity. Methods: Patients with hyperparathyroidism who had undergone parathyroidectomy were identified over a 5-y period. Pathologic correlation with results from preoperative 99mTc-sestamibi SPECT/CT followed by targeted ultrasound of the neck was performed. The number of glands, the location, and the presence of concurrent thyroid disease were reviewed. Results: The study included 146 patients (88% single gland, 7% multigland, and 5% negative explorations). The sensitivity and specificity of SPECT/CT-guided ultrasound were 83% and 96%, respectively. The sensitivity was higher for single gland (87%) than multigland disease (70%). The addition of ultrasound significantly increased the sensitivity of the technique (P < 0.001). The presence of concurrent thyroid disease (nodules/thyroiditis) did not adversely affect sensitivity (85% confidence interval, 74.2%-93.1%) compared with normal or atrophic glands (82% confidence interval, 72.3%-89.7%). Conclusion: SPECT/CT-guided ultrasound represents a useful means of localizing parathyroid adenomata, thereby aiding the decision to undertake minimally invasive or exploratory surgery. The 1-stop approach offers patient convenience and enables the radiologist to use the additive benefits of both modalities to optimize localization. The technique is less sensitive in multigland disease, but concurrent thyroid disease does not adversely affect sensitivity.

The role of ultrasound-guided tissue sampling techniques in the management of extra-ocular orbital lesions.

BACKGROUND: Multiple disease processes may arise within the orbit and imaging plays a vital role in the evaluation of such lesions. The anterior orbital contents are readily amenable to evaluation by ultrasonography. Furthermore, the modality can be used to guide tissue sampling (fine needle aspiration or core biopsy) and may obviate the requirement for invasive surgical biopsy. METHODS: We carried out a retrospective review of ultrasound-guided fine needle aspirations/core biopsies of extra-ocular orbital lesions undertaken at our institution. The anatomical locations, sonographic appearances and sampling techniques were analysed. RESULTS: There were 7 fine needle aspirations and 1 core biopsy carried out during the period analysed. Multimodality imaging was available in all cases. The majority of lesions were located in the region of the lacrimal gland. All procedures were well-tolerated and there were no post-procedure complications. CONCLUSION: Many extra-ocular, orbital neoplasms are amenable to ultrasound-guided tissue sampling and the procedure is well tolerated. However, a clear understanding of orbital anatomy, differential diagnosis and technique is required to enable safe sampling. Furthermore, a collaborative, multimodality approach is imperative for optimal patient management.

Parathyroid adenoma arising within the sternocleidomastoid muscle: a rare complication of autotransplantation.

A 19-year-old patient presented with slowly enlarging, painless, left-sided cervical mass. She had a background of multiple endocrine neoplasia 2B and had undergone a total thyroidectomy for medullary thyroid carcinoma during childhood. A cervical recurrence was therefore suspected. Ultrasonographic and MRI examination revealed a well-defined lesion within the left sternocleidomastoid muscle. Further evaluation with sestamibi and single-photon emission CT revealed elevated tracer uptake within the lesion. Cytological analysis, following ultrasound-guided sampling, revealed absent staining for calcitonin and blood samples confirmed a normal serum calcitonin level; however, the serum parathyroid hormone level was elevated. Overall, summative findings were consistent with a diagnosis of a parathyroid adenoma arising within the left sternocleidomastoid muscle. Given that this is not a location for a physiological parathyroid tissue, the adenoma might have arisen within the autotransplanted parathyroid tissue, injected into the muscular sheath during thyroidectomy. The clinical, radiological and pathological features are considered in this article.

Endovascular Management of True Renal Arterial Aneurysms: Results from a Single Centre.

PURPOSE: To report a single centre's experience of the endovascular treatment of renal arterial aneurysms, including techniques and outcomes. MATERIALS AND METHODS: This is a retrospective analysis of true renal arterial aneurysms (TRAAs) treated using endovascular techniques over a period of 12 years and 10 months. The clinical presentations, aneurysm characteristics, endovascular techniques and outcomes are reported. RESULTS: There were nine TRAA cases with a mean aneurysm size of 21.0 mm, located at the main renal arterial bifurcation in all cases. Onyx(®) was used as the embolic agent of choice (88.9 % cases), with concurrent balloon remodelling. The overall primary technical success rate was 100 %. Repeat intervention was carried out in 1 case, secondary to reperfusion >8 years post-initial treatment. Long-term clinical follow-up was available in 55.6 % of cases (mean 29.8 months; range 3.3-90.1 months). Early post-procedural renal function, as measured by serum creatinine, remained within the normal reference range. Renal parenchymal loss post-embolisation was ≤20 % in 77.8 % of cases, as estimated on imaging. Minor complications included non-target embolization of Onyx(®) with no clinical sequelae (n = 1), transient pain requiring only oral analgesia with no prolongation of hospital stay (n = 2). No major complications occurred as a consequence of embolisation. CONCLUSION: Endovascular therapy is an effective and safe primary therapy for TRAA with high success rate and low morbidity, supplanting surgery as primary therapy. Current experience in the use of Onyx(®) in TRAA is primarily limited to individual case reports, and this represents the largest case series of Onyx(®)-treated TRAAs to date.

Face and content validity of sheep heads in endoscopic rhinology training.

BACKGROUND: The objective of this study was to assess the face and content validity of the sheep head model in endoscopic rhinology training. METHODS: This study was a prospective evaluation study. Experienced otolaryngologists and trainees were recruited to complete 7 endoscopic rhinology tasks on pre-prepared sheep heads. All participants completed a validated 20-item questionnaire using a 5-point Likert scale to assess the model across 4 domains: face validity (FV), global content (GC), task-specific content (TSC), and curriculum applicability (CTR). RESULTS: Participants, including 25 experienced otolaryngologists and 45 trainees, completed all tasks. There were no statistically significant differences between the 2 groups' ratings for FV, GC, or CTR (p = 0.50.7, 0.278, and 0.157, respectively). The model achieved median face validity of 4 (interquartile range [IQR]: 4 to 5) with the agreement of experienced surgeons and trainees alike (95% and 90%, respectively). The median global content was 4 (IQR: 4 to 5 and agreement of 88% and 87%. There was some variation in the rating of task-specific content. A total of 6 tasks achieved validity with the agreement of experienced otolaryngologists. The highest-rated tasks were "examination under anesthesia" and "foreign body retrieval." Participants agreed on curriculum incorporation, transferability, and recommendation to trainees (median: 5; IQR: 4 to 5 and 95% to 97% agreement). CONCLUSION: The sheep head model achieved face and content validity for endoscopic rhinology training. It is safe, affordable, and can aid early-years trainees in acquiring a range of basic endoscopic rhinology skills.

Retroperitoneoscopic or laparoscopic adrenalectomy? A single-centre UK experience.

BACKGROUND: Laparoscopic adrenalectomy (LA) is the "gold standard" approach to benign adrenal tumours. Retroperitoneoscopic adrenalectomy (RA) is an increasingly popular alternative. The purpose of this study was to compare our preliminary experience with RA to the more established LA. METHODS: Data on patients undergoing adrenalectomy over a 2-year period from 2010 were reviewed. Patients undergoing open adrenalectomy, bilateral adrenal surgery, or paraganglioma resection were excluded. The LA and RA patients were compared according to their operative time, time to first oral intake, complications, analgesic requirements, and length of hospital stay. Further analysis was performed on patients matched for all patient and disease-related criteria. Statistical analysis was performed using the χ (2) test and the Mann-Whitney U test as appropriate. RESULTS: A total of 71 adrenalectomies that fit the inclusion criteria were performed during the period studied of which 36 patients underwent LA and 35 patients underwent RA. Mean tumour size differed between the two groups (2.83 cm in RA group vs. 4.1 cm in LA group; p = 0.033). Operative time, time to first oral intake, analgesic requirements, length of hospital stay, and postoperative complications were all significantly lower in the RA group. Analysis of matched patients showed a significant difference between RA and LA in analgesia requirements (5 vs. 8 paracetamol doses, p = 0.014; 2 vs. 10 tramadol doses, p = 0.042) as well as in the length of hospital stay (1.58 vs. 3.58 days, p = 0.038). CONCLUSIONS: RA may be associated with reduced postoperative pain and length of hospital stay. It is a valuable alternative to LA in smaller tumours where it may prove to be superior.

A rare complication: lymphocele following a re-operative right thyroid lobectomy for multinodular goitre.

Lymphatic leakage is a rare complication of thyroid surgery, the risk of which increases in the presence of malignancy and correlates with the extent of surgery. Although primarily associated with left-sided thoracic duct injuries, lymphatic leaks may occur following right-sided neck dissections for metastatic thyroid cancer. However, the development of a lymphocele following a right-sided lobectomy for benign disease is exceptionally rare. The authors present the case of a patient who developed a cervical lymphocele 10 days after a re-operative right thyroid lobectomy for a multinodular goitre. The patient was successfully managed conservatively with a combination of dietary modification and high-dose octreotide. The reason for her presentation was most likely the result of an occult injury to a congenitally-aberrant lymphatic duct, brought into the operative field by postsurgical adhesions. The case serves to highlight the importance of subtle variations in lymphatic anatomy in the context of a re-operative thyroidectomy.