Comprehensive Transcriptome Analysis Reveals the Distinct Gene Expression Patterns of Tumor Microenvironment in HPV-Associated and HPV-Non Associated Tonsillar Squamous Cell Carcinoma.

Head and neck squamous cell carcinomas (HNSCCs) are a common type of cancer, ranking as the sixth most prevalent cancer worldwide and having a high morbidity and mortality rate. Among oropharyngeal squamous cell carcinoma (OPSCC) cancers, tonsillar squamous cell carcinoma (TSCC) is the most prevalent and has a particularly aggressive clinical course with poor disease outcomes. The tumor microenvironment (TME) of HNSCC is complex and heterogeneous, playing a crucial role in effective cancer therapy. Understanding the interaction between cancer inflammation, immunity, oncogenes, and tumor suppressor genes is essential for developing effective cancer treatments. This study aimed to gain a comprehensive understanding of the transcriptomes of the TME in TSCC, both associated with human papillomavirus (HPV) and not associated with HPV. The gene expression profiles of 168 genes linked to various cellular mediators and factors involved in inflammation, immunity crosstalk, transcription, signal transduction, oncogenesis, tumor suppression, angiogenesis, and apoptosis were analyzed. We identified 40 differentially expressed genes related to the communication between tumor cells and the cellular mediators of inflammation and immunity crosstalk. In HPV-positive TSCC patients, 33 genes were over-expressed with a fold change greater than 1.5, and 26 of these genes were unique to this group. In contrast, HPV-negative TSCC patients had 11 up-regulated genes. The results further showed that 48 gene transcripts related to oncogenesis, tumor suppression, angiogenesis, and apoptosis were up-regulated in both HPV-positive and HPV-negative TSCC patients. Among the HPV-positive TSCC patients, 37 genes were over-expressed, while the HPV-negative TSCC patients had 11 up-regulated genes. The tumor microenvironment (TME) of HPV-associated and HPV-non-associated TSCC exhibited distinct characteristics, including the dysregulation of various genes involved in cellular mediators, inflammation, immunity crosstalk, transcription factors, immune signaling pathways, signal transduction, oncogenesis, tumor suppression, angiogenesis, and apoptosis. Additionally, we detected six Hr-HPV genotypes in 81% of the TSCC patients, with HPV-16 and HPV-35 being the most common types, followed by HPV-45 and HPV-18. HPV-39 and 31 were also identified. The presence of Hr-HPV genotypes in TSCC patients varied from single to multiple infections. In conclusion, we observed distinct heterogeneity in the transcriptome of the microenvironment in HPV-associated and non-associated TSCC. Further in vitro and in vivo studies are needed to investigate the functional implications of the identified over-expressed genes. Also, deeper molecular pathways and immunological studies on the TME are required to determine the potential of targeting genes for cancer therapy.

Internal jugular vein phlebectasia: A systematic review of therapeutic approaches in Pediatrics.

OBJECTIVES: Internal jugular vein phlebectasia (IJVP) is a rare type of vascular abnormality that causes dilatation of internal jugular vein in the neck. There is presently no consensus on the most effective method of treatment for this condition, that is commonly seen in children. We conducted a systematic review of the literature reported till date to comprehend the key features of IJVP and its most effective therapeutic modalities. METHODS: Five databases were searched until October 10, 2022 for articles of any design (including case reports) reporting IJVP in pediatric subjects. Individual patient data on demographics, clinical features of this entity and the differential diagnosis, methods of imaging, management, and outcome of illness were recorded. The quality assessment was performed using the Joanna Briggs Institute's Critical Appraisal Checklist for studies. RESULTS: A total of 51 articles including 169 cases were retrieved and included in the analysis. Of the 169 patients, most of them were male children, and in 77% of cases right internal Juglar vein was involved. All patients had some symptoms suggestive of IJVP with most common ones being neck swelling or tenderness, and difficulty in breathing. In 90% of cases, it was observed that the neck swelling typically increases in size with Valsalva maneuver. Once jugular vein phlebectasia was clinically suspected, ultrasonography, CECT, or color Doppler flow imaging were used to confirm the diagnosis. The management of most of the cases was either conservative or surgical, and in surgery mostly ligation was performed. There have not been any cases of serious complications, therefore, according to included studies, a conservative approach is recommended with continuous monitoring. Out of the 51 studies included, most of them had low risk of bias. CONCLUSION: Internal jugular vein phlebectasia, a rare benign condition, is most commonly found in children, and affects predominantly the right internal jugular vein. Although most patients did well with merely conservative treatment, still management of this vascular anomaly has to be on a case-by-case basis.

Juvenile Recurrent Parotitis: An Eight-Year-Old Boy With a Painful Acute Right-Sided Parotid Swelling.

Juvenile recurrent parotitis (JRP) is a rare recurrent non-obstructive inflammatory swelling of the parotid gland occurring most commonly in children aged three to six years. JRP is usually idiopathic and presents as a painful swelling recurring on either side of the face at least twice within six months. We report the case of an eight-year-old Saudi boy with a painful acute right-sided parotid swelling and a history of similar occurrences bilaterally at least four times a year for two years. The routine laboratory investigations were unremarkable. Ultrasonography of the parotid glands suggested parotitis with cervical lymphadenopathy. He was treated conservatively and remained asymptomatic for a year. Although rare, an accurate diagnosis of JRP is possible with adequate history, physical examination, and lab investigations, supplemented with radiographic findings.

Desmoplastic Fibroblastoma of the Supraclavicular Region: A Rare Soft-Tissue Tumor With a Review from the Last Decade.

Desmoplastic fibroblastoma (DF) is primarily a sporadic, rare, benign, soft-tissue tumor with an excellent prognosis and no reported recurrence to date. DF presents as a painless, slow-growing mass with symptoms due to its mass effect. We report a case of a middle-aged man presenting with a right supraclavicular mass and numbness of the right arm, eventually diagnosed as DF. After confirming the diagnosis with imaging and biopsy studies, the tumor was successfully excised using a transcervical approach with no complication or recurrence detected during the 2-year follow-up after surgery. A review of the relevant literature is presented regarding the presentation, diagnosis, and outcomes of published case reports of DF coinciding with those of our discussed case. This case report adds to the pool of uncommon DF cases mainly for its unique symptoms and location. It also highlights the necessity of health education related to painless masses that might be attributed as trivial in the community.

Kimura Disease: An Unusual Presentation of Parotid Mass in a Sickle Cell Disease Patient.

Kimura disease (KD) is a rare benign chronic inflammatory condition of unknown cause, usually affecting young men of the Asian race. It is frequently associated with nephrotic syndrome. In this report, we present an uncommon case of KD in a 40-year-old Saudi man with sickle cell disease who presented with swelling on the right side of his face. CT scan of the head and neck showed the asymmetrical appearance of both parotid glands: the right side appeared heterogeneously enlarged, with adjacent moderate-to-significant fat stranding. Histologically, hyperplastic changes in lymphoid tissue were observed. The patient underwent superficial parotidectomy and was then followed up till the healing of the surgical site with no complications.

Carcinosarcoma ex pleomorphic adenoma of the parotid gland: a case report.

Carcinosarcoma ex pleomorphic adenoma is an extremely rare malignant neoplasm of the salivary gland that originates from a pre-existing benign tumor. Malignant transformation of the pleomorphic adenoma is extremely rare. The management of carcinosarcoma ex pleomorphic adenoma remains challenging because of its rarity, behavioral aggressiveness and resemblance to benign pleomorphic adenoma. Herein, we present the case of a 75-year-old male resident of Saudi Arabia with a history of a swelling in the right parotid gland for more than 25 years, which grew slowly with time. He underwent surgical removal with superficial parotidectomy. Afterward, histological examination of the resected tumor revealed features of carcinosarcoma, and he was diagnosed with carcinosarcoma ex pleomorphic adenoma. He presented again with recurrence of the tumor, which was managed with total parotidectomy and a combination of radiotherapy and chemotherapy. At 12-month follow-up, the patient showed no evidence of disease recurrence or distant metastasis.