The 8th AJCC classification is inferior to a new neck stage based on intraparotid lymph node in parotid gland cancer.

BACKGROUND: Lymph node (LN) status is an important prognostic factor for parotid gland cancer (PGC). This study aimed to analyze the impact of extranodal extension (ENE) of intraparotid LN and LN metastasis burden on survival in PGC. METHODS: Patients with surgically treated PGC and at least one metastatic cervical LN were retrospectively enrolled. Primary outcome variables were distant metastasis-free survival (DMFS), disease-specific survival (DSS), and overall survival (OS). The impact of ENE and LN metastasis burden was assessed using the Cox model. RESULTS: A total of 292 patients were included. ENE in cervical or intraparotid LN was not associated with DMFS, DSS, or OS. Intraparotid LN metastasis had a significant impact on prognosis, and the presence of only one metastatic intraparotid LN offered an approximately 1.5-fold risk of distant metastasis. Prognostic models based on the number of positive LNs (1 vs. 2-3 vs. 4+) were superior to the AJCC N stage in terms of DMFS, DSS, and OS. CONCLUSIONS: ENE of cervical or intraparotid LN has a limited effect on the prognosis of PGC, and the number of positive LNs is better than the AJCC N stage in LN status evaluation.

Large atypical lipomatous tumour of the neck with mediastinal extension managed by transcervical excision.

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.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders with a similar clinical picture because of their genetic and phenotypic heterogeneity. We describde the genotype-phenotype correlation of one patient from a healthy Chinese family with a novel genotype underlying CSS, who was first diagnosed in the ophthalmology department as early-onset high myopia (eoHM). Comprehensive ophthalmic tests as well as other systemic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. Real-time quantitative PCR (RT-qPCR) technology was used to detect the relative mRNA expression levels of candidate genes between proband and normal family members. The pathogenicity of the identified variant was determined by The American College of Medical Genetics and Genomics (ACMG) guidelines. STRING protein-protein interactions (PPIs) network analysis was used to detect the interaction of candidate gene-related proteins with high myopia gene-related proteins. The patient had excessive eoHM, cone-rod dystrophy, coarse face, excessive hair growth on the face, sparse scalp hair, developmental delay, intellectual disability, moderate hearing loss, dental hypoplasia, patent foramen ovale, chronic non-atrophic gastritis, bilateral renal cysts, cisterna magna, and emotional outbursts with aggression. The genetic assessment revealed that the patient carries a de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients. The test results of RT-qPCR showed that mRNA expression of the ARID1B gene in the proband was approximately 30% lower than that of the normal control in the family, suggesting that the variant had an impact on the gene function at the level of mRNA expression. The variant was pathogenic as assessed by ACMG guidelines. Analysis of protein interactions in the STRING online database revealed that the ARID1A protein interacts with the high myopia gene-related proteins FGFR3, ASXL1, ERBB3, and SOX4, whereas the ARID1A protein antagonizes the ARID1B protein. Therefore, in this paper, we are the first to report a de novo heterozygous frameshift insertion variant in the ARID1B gene causing CSS with excessive eoHM. Our study extends the genotypic and phenotypic spectrums for ARID1B-CSS and supplies evidence of significant association of eoHM with variant in ARID1B gene. As CSS has high genetic and phenotypic heterogeneity, our findings highlight the importance of molecular genetic testing and an interdisciplinary clinical diagnostic workup to avoid misdiagnosis as some disorders with similar manifestations of CSS.

Clinicopathological Features and Molecular Signatures of Lateral Neck Lymph Node Metastasis in Papillary Thyroid Microcarcinoma.

BACKGRUOUND: The predictive factors for lateral neck lymph node metastasis (LLNM) in papillary thyroid microcarcinoma (PTMC) remain undetermined. This study investigated the clinicopathological characteristics, transcriptomes, and tumor microenvironment in PTMC according to the LLNM status. We aimed to identify the biomarkers associated with LLNM development. METHODS: We retrospectively reviewed the medical records of patients with PTMC from two independent institutions between 2018 and 2022 (n=597 and n=467). We compared clinicopathological features between patients without lymph node metastasis (N0) and those with LLNM (N1b). Additionally, laser capture microdissection and RNA sequencing were performed on primary tumors from both groups, including metastatic lymph nodes from the N1b group (n=30; 20 primary tumors and 10 paired LLNMs). We corroborated the findings using RNA sequencing data from 16 BRAF-like PTMCs from The Cancer Genome Atlas. Transcriptomic analyses were validated by immunohistochemical staining. RESULTS: Clinicopathological characteristics, such as male sex, multifocality, extrathyroidal extension, lymphatic invasion, and central node metastasis showed associations with LLNM in PTMCs. Transcriptomic profiles between the N0 and N1b PTMC groups were similar. However, tumor microenvironment deconvolution from RNA sequencing and immunohistochemistry revealed an increased abundance of tumor-associated macrophages, particularly M2 macrophages, in the N1b group. CONCLUSION: Patients with PTMC who have a male sex, multifocality, extrathyroidal extension, lymphatic invasion, and central node metastasis exhibited an elevated risk for LLNM. Furthermore, infiltration of M2 macrophages in the tumor microenvironment potentially supports tumor progression and LLNM in PTMCs.

The Diagnostic Performance of Magnetic Resonance Imaging in the Categorization of Pediatric Neck Lymph Nodes: Radiologic and Pathologic Correlations.

BACKGROUND/AIM: To present MRI features of neck lymph nodes in benign and malignant conditions in the pediatric population. MATERIALS AND METHODS: MRIs of the neck of 51 patients 1 to 18 years old (40 boys, 11 girls [10.08±4.73]) with lymph node biopsy were retrospectively analyzed. Those were grouped as benign including reactive (27 [52.9%]) and lymphadenitis (11 [21.6%]), and malignant (13 [25.5%]). The groups were evaluated multiparametrically in terms of quantitative and qualitative variables. RESULTS: The long axis, short axis, area, and apparent diffusion coefficient (ADC) values of the largest lymph node were 21 (17 to 24) mm, 14 (12 to 18) mm, 228.60 (144.79 to 351.82) mm 2 , 2531 (2457 to 2714) mm 2 /s for reactive, 24 (19 to 27) mm, 15 (11 to 20) mm, 271.80 (231.43 to 412.20) mm 2 , 2534 (2425 to 2594) mm 2 /s for lymphadenitis, 27 (23.50 to 31.50) mm, 20 (15 to 22) mm, 377.08 (260.47 to 530.94) mm 2 , 2337 (2254 to 2466) mm 2 /s for malignant, respectively. Statistical analysis of our data suggests that the following parameters are associated with a higher likelihood of malignancy: long axis >22 mm, short axis >16 mm, area >319 cm 2 , ADC value <2367 mm 2 /s, and supraclavicular location. Perinodal and nodal heterogeneity, posterior cervical triangle location are common in lymphadenitis ( P <0.001). Reactive lymph nodes are distributed symmetrically in both neck halves ( P <0.001). CONCLUSION: In the MRI-based approach to lymph nodes, not only long axis, short axis, surface area, and ADC, but also location, distribution, perinodal, and nodal heterogeneity should be used.

Predicting central cervical lymph node metastasis in papillary thyroid carcinoma with Hashimoto's thyroiditis: a practical nomogram based on retrospective study.

Background: In papillary thyroid carcinoma (PTC) patients with Hashimoto's thyroiditis (HT), preoperative ultrasonography frequently reveals the presence of enlarged lymph nodes in the central neck region. These nodes pose a diagnostic challenge due to their potential resemblance to metastatic lymph nodes, thereby impacting the surgical decision-making process for clinicians in terms of determining the appropriate surgical extent. Methods: Logistic regression analysis was conducted to identify independent risk factors associated with central lymph node metastasis (CLNM) in PTC patients with HT. Then a prediction model was developed and visualized using a nomogram. The stability of the model was assessed using ten-fold cross-validation. The performance of the model was further evaluated through the use of ROC curve, calibration curve, and decision curve analysis. Results: A total of 376 HT PTC patients were included in this study, comprising 162 patients with CLNM and 214 patients without CLNM. The results of the multivariate logistic regression analysis revealed that age, Tg-Ab level, tumor size, punctate echogenic foci, and blood flow grade were identified as independent risk factors associated with the development of CLNM in HT PTC. The area under the curve (AUC) of this model was 0.76 (95% CI [0.71-0.80]). The sensitivity, specificity, accuracy, and positive predictive value of the model were determined to be 88%, 51%, 67%, and 57%, respectively. Conclusions: The proposed clinic-ultrasound-based nomogram in this study demonstrated a favorable performance in predicting CLNM in HT PTCs. This predictive tool has the potential to assist clinicians in making well-informed decisions regarding the appropriate extent of surgical intervention for patients.

Unicentric Castleman's disease in the parotid gland associated with psoriasis: a case report.

BACKGROUND: Castleman's disease is a rare lymphoproliferative disorder that is often misdiagnosed because of its untypical clinical or imaging features except for a painless mass. Besides, it is also difficult to cure Castleman's disease due to its unclear pathogenesis. CASE PRESENTATION: We present a Castleman's disease case with diagnostic significance regarding a 54-year-old Chinese male who has a painless mass in his left parotid gland for 18 months with a 30-years history of autoimmune disease psoriasis. Computed tomography scan showed a high-density nodule with clear boundaries in the left parotid and multiple enlarged lymph nodes in the left submandibular and neck region. General checkup, the extremely elevated serum interleukin-6 and lymph node biopsy in the left submandibular region gave us an initial suspicion of Castleman's disease. Then the patient underwent a left superficial parotidectomy. Based on histopathologic analysis, we made a certain diagnosis of Castleman's disease and gave corresponding treatments. In 18 months of follow-up, the patient showed no evidence of recurrence, with the level of serum interleukin-6 decreased. CONCLUSIONS: Clinicians should be aware of the possibility of Castleman's disease when faced with masses or enlarged lymph nodes in the parotid gland to avoid misdiagnosis, especially in patients with autoimmune diseases and elevated serum interleukin-6.

Adenoid Cystic Carcinoma, Clinical Presentation, Current Treatment and Approaches Towards Novel Therapies.

Adenoid cystic carcinoma (AdCC) is a rare cancer originating from secretory glands with unknown aetiology. It is one of the most dominant malignant salivary tumours (MST). However, it can arise in other areas of the head and neck region and in secretory glands outside this area. It occurs at all ages, but is more frequent between 50-70 years of age and more common in females than in males. The symptoms of AdCC are generally unspecific and the clinical diagnosis of AdCC maybe challenging, partially due to its heterogenous histopathology and indolent growth. Moreover, there is a lack of good prognostic markers, and due to its rarity, it is difficult to predict which therapeutic methods are the most optimal for each patient, especially since very late recurrences occur. This review presents some major characteristics of AdCC and some current treatments for this disease.

Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer.

With the advent of molecular immunohistochemistry and next generation sequencing, Switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex altered tumors have gained recognition recently. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 (SMARCB1) and SMARCA4 are the primary SWI/SNF components altered in several recently described undifferentiated malignancies in head and neck region with predilection for paranasal sinuses in SMARCB1-deficient tumors and nasal cavity in SMARCA4-deficient tumors. However, to the best of our knowledge, SMARCA4-deficient tumors of the oropharynx have not been described. We present an unusual case of SMARCA4-deficient carcinoma of the oropharynx (palatine tonsil) which is the first case in the literature, expanding the topographic distribution of SMARCA4-deficient tumors in the head and neck region and emphasizing the importance of BRG1 as an essential immunohistochemical marker for the diagnosis of this distinct entity.

Diagnostic dilemma in maxillofacial pathologies: a case series.

BACKGROUND: Head and neck are a site of numerous pathologies with different aetiologies and presentations. Rare pathologies, although infrequent still do exist. Diagnostic dilemma in maxillofacial pathologies can be the most challenging situation. Dealing with uncertainty, although difficult, is a reality in surgical practice. Being thorough, attentive to details and clues, and maintaining an open mind are critical strategies in the approach to such a patient. CASE PRESENTATION: In our paper we are reporting a spectrum of 4 unusual variants of head and neck pathologies, whose age and sex were 52 years/ M, 37 years/F, 41 years/ F, 30 years/F respectively. All the patients were of Indian origin. The diagnosis ranged from autoimmune diseases to lymphatic cancer which posed a unique challenge both in the terms of diagnosis and management. CONCLUSION: A thorough systematic evaluation along with a multidisciplinary approach is mandatory in the diagnosis of unusual head and neck pathologies.

Giant cell tumor of soft tissue involving thyroid gland: a case report and review of the literature.

BACKGROUND: Giant cell tumor of soft tissue is a low malignant uncommon neoplasm, with histologic features and immunophenotype similar to its bone counterpart. Primary giant cell tumor of soft tissue in the thyroid gland is considered an exceedingly rare entity. CASE PRESENTATION: We describe a case of primary thyroid giant cell tumor of soft tissue in a 69-year-old Chinese female patient. Neck ultrasonography showed a 19 mm × 12 mm × 5 mm nodule with heterogeneous echo and clear boundary located within the left thyroid. Histopathological examination revealed that the neoplasm was composed of two morphological components, mononuclear cells admixed with multinucleated osteoclast-like giant cells. Immunohistochemically, the tumor cells were positive for CD68 and vimentin, but were negative for epithelial membrane antigen, cytokeratin, and additional muscle markers. She underwent left unilateral thyroidectomy, and total thyroidectomy was performed for local recurrence 3 months later. The patient remained well without recurrence or metastasis following up for 12 months. CONCLUSION: The significance of this case lies in its rarity, the challenge of preoperative clinical diagnosis, and the differential diagnosis with other malignancies.

Non-traumatic head and neck emergencies.

This review aims to provide pictorial examples of non-traumatic head and neck emergencies one may commonly encounter in the Emergency Department, with a few important, rarer cases for educational purposes. It begins with a brief introduction to compartmental neck space anatomy and how one might approach choosing an imaging modality, moving on to consider a variety of predominantly infective pathologies that may present acutely. It is not a comprehensive overview of all non-traumatic emergencies but will hopefully stimulate interest in the subject and encourage further reading.

Primary Oral Mixed Neuroendocrine-Non-neuroendocrine Neoplasm (MiNEN): A Rare Case Report and Review of the Literature.

Mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) are rare tumors recently characterized by the presence of both neuroendocrine and non-neuroendocrine components within the same tumor tissue. Although MiNEN found their place in the WHO classification for various organs, this composite tumor in the head and neck region remains exceptionally rare. We present a case of primary oral MiNEN in a 64-year-old male located on the left side of lower gingiva. Biopsy raised suspicion of neuroendocrine carcinoma (NEC) and the patient underwent partial mandibulectomy. The resected specimen showed two distinct components of NEC and squamous cell carcinoma (SCC) with the confirmation of immunohistochemical markers. There has been no sign of recurrence nor metastasis 6 years after the surgery. In addition, we have conducted a review of published cases with potential relevance to this entity, resulting in five cases. The diverse terminology reinforces the need for a standardized classification system of oral/head and neck MiNENs.

Management of a rapidly enlarging supraclavicular mass of unknown aetiology.

Intramuscular haemangiomas are benign tumours showing an extremely rare occurrence and making up less than 1% of all haemangiomas. The goal of this case report is to share our experience in treating a patient with an extremely rare intramuscular haemangioma, which occurred in the supraclavicular region VB level of the neck and extended towards the infraclavicular space, localised within and inferior to the trapezius muscle. The lesion was diagnosed by using multimodal imaging and a wide excision was performed with intraoperative feeding vessel ligation and a good postoperative result. The main difficulties regarding diagnosis and treatment include a lack of evidence-based guidelines, due to limited publications on this topic, the nature of the lesion frequently showing obscure anatomic localisation deep within muscles and unclear delineation, various anatomic origin requiring an individual treatment approach, inconclusive radiologic signs as well as non-specific symptoms.

Prediction of cervical lymph node metastasis in differentiated thyroid cancer based on radiomics models.

OBJECTIVE: The accurate clinical diagnosis of cervical lymph node metastasis plays an important role in the treatment of differentiated thyroid cancer (DTC). This study aimed to explore and summarize a more objective approach to detect cervical malignant lymph node metastasis of DTC via radiomics models. METHODS: PubMed, Web of Science, MEDLINE, EMBASE, and Cochrane databases were searched for all eligible studies. Articles using radiomics models based on ultrasound, computed tomography, or magnetic resonance imaging to assess cervical lymph node metastasis preoperatively were included. Characteristics and diagnostic accuracy measures were extracted. Bias and applicability judgments were evaluated by the revised QUADAS-2 tool. The estimates were pooled using a random-effects model. Additionally, the leave-one-out method was conducted to assess the heterogeneity. RESULTS: Twenty-nine radiomics studies with 6160 validation set patients were included in the qualitative analysis, and 11 studies with 3863 validation set patients were included in the meta-analysis. Four of them had an external independent validation set. The studies were heterogeneous, and a significant risk of bias was found in 29 studies. Meta-analysis showed that the pooled sensitivity and specificity for preoperative prediction of lymph node metastasis via US-based radiomics were 0.81 (95% CI, 0.73-0.86) and 0.87 (95% CI, 0.83-0.91), respectively. CONCLUSIONS: Although radiomics-based models for cervical lymphatic metastasis in DTC have been demonstrated to have moderate diagnostic capabilities, broader data, standardized radiomics features, robust feature selection, and model exploitation are still needed in the future. ADVANCES IN KNOWLEDGE: The radiomics models showed great potential in detecting malignant lymph nodes in thyroid cancer.