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Spindle epithelial tumor with thymus-like elements (SETTLE) is a rare malignant neoplasm of the thyroid gland which is believed to arise from intrathyroidal thymic tissue. It predominantly affects young adults and children presenting with a thyroid mass of variable duration and rarely occurs in adults. It has a high overall survival with a tendency for delayed metastasis. SETTLE is a biphasic lobulated tumor composed of spindle shaped cells along with glandular formations seen on histopathological examination. Despite its typical morphology it is commonly misdiagnosed on histopathology due to its rarity and overlapping morphology with other close mimics such as a carcinoma, synovial sarcoma and thymoma. Herein we report such a case occurring in a middle aged female presenting with a neck mass. She had an initial diagnosis of metastatic poorly differentiated squamous cell carcinoma possibly with an orophayngeal primary in view of co expression of CK, p40 and p16 on immunohistochemistry. The patient underwent surgical resection with modified neck dissection. On review at our hospital it was diagnosed as SETTLE and she remains disease free after a follow-up period of 1 year. Diligent histopathological examination espoused with a judicious panel of IHC markers in conjunction with clinicoradiological findings forms the mainstay of diagnosis. Diffuse and strong p16 immunoexpression has not been documented or evaluated in literature so far, and needs to be explored for its diagnostic utility in this rare entity.
Subject(s)
Biomarkers, Tumor , Humans , Female , Biomarkers, Tumor/analysis , Middle Aged , Thyroid Neoplasms/pathology , Thyroid Neoplasms/diagnosis , Immunohistochemistry , Diagnosis, Differential , Thymus Neoplasms/pathology , Thymus Neoplasms/diagnosis , Neck Dissection , Neoplasms, Glandular and Epithelial/pathology , Neoplasms, Glandular and Epithelial/diagnosis , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/diagnosisABSTRACT
OBJECTIVE: Thyroid-originated paragangliomas are very uncommon, and there is a lack of established guidelines regarding their management. METHODS: A case study was presented, and a review of the literature was conducted. RESULTS: Diagnosing a paraganglioma requires multiple diagnostic methods, including a 24-h measurement of metanephrines or catecholamines, anatomical imaging using magnetic resonance or computed tomography (CT) scans, and functional imaging using metaiodobenzylguanidine or 18F-DOPA PET/CT scans. Additionally, with the presence of somatostatin receptors on paragangliomas, the use of octreotide scans such as a 68Ga DOTATATE PET/CT scan is expected to increase soon. The primary treatment for laryngeal paragangliomas is surgical intervention aimed at achieving optimal tumor removal while retaining the highest possible level of laryngeal function. One should not do elective neck dissection given the low risk of metastasis and recurrence. Although the rate of recurrence and metastasis for paragangliomas is low, continued monitoring through clinic visits, biochemical testing, and imaging is still necessary. Furthermore, follow-up efforts should also consider genetic testing of the critical genes associated with paragangliomas. CONCLUSION: Although there is still debate regarding the existence of thyroid paraganglioma, it can nonetheless be classified as a subtype of laryngeal paragangliomas. All hypervascular thyroid nodules require the consideration of thyroid-associated paragangliomas.
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BACKGROUND: Postoperative carotid endarterectomy (CEA) patch infection is a rare but well-recognized complication of CEA. It is important for otolaryngologists to be aware of the presentation and challenges in its diagnosis. METHODS: Patients who presented with a neck mass or hemorrhage and a known prior history of carotid endarterectomy with synthetic patch reconstruction were worked up with ultrasound, CT, or MRI imaging. In one case, fine needle aspiration biopsy was performed. Ultimately, all patients were taken to the operating room for neck exploration. RESULTS: Of the three patients presented in this case series, two presented with a chronic neck mass, two-to-three years after carotid endarterectomy. One patient presented acutely with hemorrhage from the carotid endarterectomy site. Carotid patch infection was diagnosed after neck exploration in all cases. Vascular surgery was consulted intra-operatively to perform definitive vascular repair. CONCLUSIONS: Infected carotid patch should be suspected in patients with a history of prior CEA, as many of the presenting complaints may resemble or mimic pathology managed by otolaryngology. The onset of symptoms can be perioperative or very delayed. A multidisciplinary approach with vascular surgery and infectious disease is required for appropriate management of these patients.
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Background Lateral neck masses have always been difficult to diagnose without proposing a differential diagnosis. Fine-needle aspiration (FNA) was proposed to be a cost-effective method and less invasive than a tru-cut biopsy and may provide a provisional diagnosis in relation to cytopathology. FNA has also been shown to improve the diagnosis of neck masses such as cervical lymphadenopathy, neck cysts, and parotid masses, whether malignant or benign. This study aims to evaluate the accuracy of FNA cytopathology versus a tru-cut biopsy histopathological examination. Materials and methods This study was conducted retrospectively in King Hussein Medical Hospital, Royal Medical Services, Hashemite Kingdom of Jordan, from January 2019 to January 2024. Ethical approval was taken to conduct this study with reference number 06/2024. All patients included in this study have given verbal and written consent to perform FNA and surgical tru-cut biopsy. The inclusion of patients was based on any person above the age of 16 who underwent an FNA followed by a surgical biopsy to correlate with the primary diagnosis. Exclusion criteria involved any patient who missed one of the above criteria. Statistical analysis was performed using IBM SPSS v29 (IBM Corp., Armonk, NY, US) with significant results considered with a p-value <0.05. Results A total of 107 patients were included in this study. A correlation between FNA results and final histopathological biopsy was done with an accuracy of 90.6%, specificity of 94.3, predictive positive value of 73.6%, and negative predictive value of 94.3%. There was a statistical significance between FNA and tru-cut biopsy with a p-value of <0.001. Conclusion FNA is a great tool to consider when diagnosing lateral neck swellings. Since it was statistically significant, FNA should be considered for any lateral neck swelling before any surgical tru-cut biopsy for a definitive diagnosis.
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Warthin's tumor, also known as adenolymphoma or papillary cystadenoma lymphomatosum, is a benign tumor almost exclusively found in the parotid gland and is the second most common type of benign parotid tumor. Its manifestation as an extraparotid lesion is rare, with a low incidence in the submandibular gland. In this context, we present a case of Warthin's tumor of the submandibular gland in a 66-year-old man who presented with a painless lateral cystic cervical mass. This case highlights the clinical and radiological evidence of an uncommon extraparotid tumor location, with the diagnosis becoming evident only after the enucleation of the mass. Despite the rarity of extraparotid Warthin's tumor and its potential variation in location, the authors recommend considering Warthin's tumor of the submandibular gland in the differential when assessing lateral cervical masses.
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Thyroid carcinoma is a complex disease with several types, the most common being well-differentiated and undifferentiated. The latter, "undifferentiated carcinoma", also known as anaplastic thyroid carcinoma (ATC), is a highly aggressive malignant tumor accounting for less than 0.2% of all thyroid carcinomas and carries a poor prognosis with a median survival of 5 months. BRAF gene mutations are the most common molecular factor associated with this type of thyroid carcinoma. Recent advances in targeted biological agents, immunotherapy, stem cell therapy, nanotechnology, the dabrafenib/trametinib combination therapy, immune checkpoint inhibitors (ICI) and artificial intelligence offer novel treatment options. The combination therapy of dabrafenib and trametinib is the current standard treatment for patients with BRAF-V600E gene mutations. Besides, the dabrafenib/trametinib combination therapy, ICI, used alone or in combination with targeted therapies have raised some hopes for improving the prognosis of this deadly disease. Younger age, earlier tumor stage and radiotherapy are all prognostic factors for improved outcomes. Ultimately, therapeutic regimens should be tailored to the individual patient based on surveillance and epidemiological data, and a multidisciplinary approach is essential.
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Branchial cleft cysts are congenital anomalies that form during fetal development and originate from the second branchial cleft. They typically manifest as painless masses on the side of the neck and can become symptomatic when infected. These cysts can create a cavity that may foster infection and, in rare instances, facilitate the spread of primary tumors. It is unusual to find ectopic thyroid tissue within a brachial cyst and it is even rarer to see papillary thyroid carcinoma developing from this tissue. Whenever physicians find a case of lateral neck cyst containing thyroid neoplasm without a known primary in the thyroid, there is always a confusion about whether it is a case of metastatic disease with an undetected primary tumor, or is a carcinoma originating from ectopic thyroid tissue. This is a case report of a papillary thyroid cancer that was unintentionally discovered inside a branchial cyst. So far, only five cases akin to this have been documented. There was no sign of an underlying primary thyroid tumor after the patient had a complete thyroidectomy and selected neck dissection, according to a comprehensive evaluation. This article touches on the development of thyroid tissue within branchial cysts and discusses the etiology of lateral neck tumors. The outcome for such patients appears to be favorable after cyst excision and total thyroidectomy. This article also emphasizes the importance of doing routine histopathological examinations on surgically removed samples that look benign.
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Background: Commonly, the thyroid gland is regarded as an organ with fewer metastatic diseases, and colorectal metastasis to the thyroid (CMT) is rarely reported, especially, with that the clinical sign of thyroid metastasis nidus is the chief complaint. The CMT occurs in advanced colorectal cancer and is associated with poor prognosis and short survival. Case Report: In this case, we reported a patient with the sign of neck mass as the first manifestation of CMT. The patient underwent a partial thyroidectomy in June 2019, immunohistochemical findings of thyroid carcinoma suggested the possibility of adenocarcinoma of gastrointestinal tract. The patient underwent a colonoscopy in July 2019 and a colonic mass was found. Pathological examination diagnosed rectal adenocarcinoma. The patient underwent neoadjuvant chemotherapy, surgical treatment, postoperative adjuvant chemotherapy and targeted therapy. The patient died in June 2022. Conclusion: The metastasis disease would not be ignored at all, when a patient complains at signs of neck mass. Further, the possibility of metastasis cancer should be considered once thyroid nodules occur in patients with colorectal cancer. Even though the biological characteristics and stage of the primary tumor have an important impact on the prognosis, positive standardized treatments can also be helpful.
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INTRODUCTION AND IMPORTANCE: Phrenic nerve schwannoma is an occasional axonal tumor that is mostly asymptomatic. CASE PRESENTATION: In this report, a man with a painless lump in his neck was the subject. His diagnostic process included the recording of schwannoma. Phrenic schwannoma was removed by surgery without any complication during follow-up. CLINICAL DISCUSSION: Surgical excision under general anesthesia was done for the patient and during the surgical explore, the surgeon observed that, the schwannoma arose from the cervical phrenic nerve. The cervical mass was dissected from the phrenic nerve precisely by intracapsular enucleation technique. CONCLUSION: The phrenic involvements of schwannomas are extremely rare and mostly presented as a painless mass. Additionally, complete surgical excision of them is an efficient method.
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Lemierre's syndrome is a rare clinical syndrome of septic thrombophlebitis following a bacterial oropharyngeal infection. Lemierre's syndrome can be difficult to recognise and has significant morbidity. We report the case of a young man with Lemierre's syndrome caused by Streptococcus pyogenes, who responded well to 2 weeks of beta-lactam therapy. Contributions: This case report summarises the key presenting features of Lemierre's syndrome and provides a brief literature review considering the South African context.
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Background: Thyroid gland abscess is a rare pathology with life-threatening complications when there is a delay in diagnosis. However, physicians should be aware of and consider this differential in patients with anterior neck swelling having acute onset compressive symptoms to ensure early diagnosis and management. Case Presentation: A 62-year-old female patient presenting with worsening of painful anterior neck swelling with associated fever, shortness of breath, and difficulty swallowing. The patient was found to have a thyroid abscess causing upper airway obstruction, against a background of follicular nodular disease found on clinical examination, cytology and fluid analysis from aspirate, biopsy, ultrasonography, and computed tomography. The patient was managed with endotracheal intubation and was subsequently discharged after recovery with antibiotic therapy, incision and drainage, and thyroid lobectomy. Conclusion: Thyroid abscess is an uncommon, critical clinical condition with high morbidity and mortality. Thyroid gland abscess should be considered while evaluating patients presenting with acute onset anterior neck swelling. Satisfactory clinical outcomes could be achieved with early diagnosis and proper management.
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Papillary thyroid carcinoma is the most common thyroid malignancy and it frequently causes lymph node metastases. Approximately 50% of patients with papillary thyroid carcinoma have cervical lymph node metastases at the time of their initial presentation. Here we report a case of a young female who presented with a benign-appearing cystic neck mass, which was revealed to be metastases from occult papillary thyroid carcinoma. Completion thyroidectomy and neck dissection were done after the diagnosis of papillary thyroid carcinoma.
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Cystic hygroma of the neck, a congenital benign tumor of the lymphatic system, is a potential cause of neonatal airway obstruction leading to stridor. Meticulous airway evaluation, case appropriate preparation, and use of advanced technology, including videolaryngoscope and ultrasonography, can facilitate the safe management of the difficult airway.
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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.
Subject(s)
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/analysisABSTRACT
BACKGROUND: Thyroglossal Duct Cyst (TDC) is a common lesion of the midline neck, originating from an incomplete involution of the thyroglossal duct. It is typically observed in pre-scholar patients and surgery is the treatment of choice to prevent infections. Here reported a case of incidental diagnosis in a newborn patient. CASE PRESENTATION: a 3-week-old male baby was admitted to our hospital for weight loss and projectile vomits after breastfeeding. After a diagnosis of hypertrophic pyloric stenosis, the baby underwent pyloromyotomy. During the endotracheal tube placement, the anesthetist noticed the presence of a midline neck mass. The suspect of TDC was confirmed by an intraoperative ultrasound, so, despite the age of the patient, we proceeded with the excision of the lesion according to Sistrunk's procedure to avoid future complications and anesthesia. CONCLUSIONS: even if TDC is a common lesion of pediatric patients, anecdotical neonatal cases were described in the literature, all of them symptomatic. An accurate physical examination and ultrasound are essential diagnostic tools to distinguish TDC from other middle neck lesions, particularly ectopic thyroidal tissue. Sistrunk's procedure is the most effective surgical approach. When diagnosis is made in a newborn, we suggest postponing surgery, unless the baby requires general anesthesia for other surgical procedures, such as in our case.
Subject(s)
Incidental Findings , Intubation, Intratracheal , Thyroglossal Cyst , Humans , Thyroglossal Cyst/diagnosis , Thyroglossal Cyst/surgery , Thyroglossal Cyst/diagnostic imaging , Male , Intubation, Intratracheal/adverse effects , Infant, Newborn , UltrasonographyABSTRACT
Positive airway pressure from noninvasive ventilation is an essential tool for many pediatric patients with respiratory distress. We present a case of an unknown third branchial anomaly that was diagnosed following inflation with continuous positive airway pressure (CPAP), which exacerbated the infant's respiratory distress.
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Parathyroid carcinoma (PC) is a rare endocrine neoplasm that typically presents with osteopenia/osteoporosis, nephrolithiasis, asthenia, and neuropsychiatric symptoms. We describe the case of a 48-year-old woman, presenting with a large painful hematoma in the cervicomediastinal area. The neck ultrasound (US) demonstrated a solid lesion measuring 40 × 80 × 55â mm, markedly hypoechoic, which extended from the right thyroid lobe to the mediastinum. The blood tests showed elevated serum calcium and parathyroid hormone (PTH) concentrations, consistent with hypercalcemic primary hyperparathyroidism. The patient was rehydrated and treated with furosemide, cholecalciferol, and bisphosphonate, and underwent right lower parathyroidectomy, right hemithyroidectomy, and lymphadenectomy of the right VI cervical level. Histological examination was diagnostic for nonangioinvasive or neuroinvasive PC, and the thyroid lobe was the site of lymphocytic thyroiditis; all removed lymph nodes were benign. The postoperative course was regular. Postoperative neck US showed a hypoechoic left thyroid lobe without evidence of residual neoplasm in the right thyroid bed. Levothyroxine therapy of 50â mcg/day was started because of serum thyrotropin concentrations elevated at 18 mcIU/mL (normal reference range, 0.35-4.0 mIU/mL). Eight years after diagnosis, the patient is in good general condition, with no clinical, biochemical, or imaging evidence of disease persistence/recurrence.
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Neck stiffness is a common clinical sign in children presenting to the emergency department that may indicate a wide variety of diagnoses. Acute suppurative thyroiditis (AST) is an infection of the thyroid gland caused by a bacterium, virus, or, less commonly, fungus. It presents as an acute or subacute development of an anterior cervical mass, with associated inflammatory signs. The pressure upon neck muscles may be reflected as a limitation of cervical mobility. AST is often preceded by an upper respiratory tract infection, and pyriform sinus fistula is the most common predisposing factor. It is particularly uncommon in the pediatric age, with limited cases reported in the literature. Therefore, a heightened suspicion is required for proper diagnosis and timely intervention, due to its high mortality. Prompt treatment with broad-spectrum parenteral antibiotic therapy and drainage is mandatory to prevent the numerous complications associated, namely, mediastinitis and sepsis. We report the case of a two-year-old female child admitted with a two-week history of intermittent high-grade fever and sore throat, followed by prostration and limitation in neck movement on admission. Examination revealed neck stiffness with positive Kernig and Brudzinski signs. The laboratory tests showed elevated inflammatory parameters. Cranial computed tomography (CT) scan and lumbar puncture were normal. On day 2 after admission, an anterior cervical mass with slight signs of fluctuation was detected. Ultrasound was compatible with a hemorrhagic/overinfected thyroid nodule, and the patient was started on broad-spectrum antibiotics. Due to clinical worsening, a cervical CT scan was performed, which documented a thyroid abscess with extension into the retropharyngeal space. She underwent surgical drainage, and Streptococcus anginosus and mixed anaerobes were isolated, sensitive to ongoing antibiotherapy. On multidisciplinary follow-up, an esophageal barium study, laryngoscopy, and cervical magnetic resonance imaging (MRI) were performed, revealing no anatomical defects. AST is a rare disease in children, but potentially fatal, so its early recognition and treatment are essential. We aim to draw attention to this disease and its differential diagnosis to reduce the associated morbimortality.
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Background: Thyroglossal duct cyst (TGDC) is the most common congenital neck mass among the pediatric population. Less than 10% of the cases occur in adults. The standard of care for TGDC is surgical treatment with the Sistrunk procedure via a traditional transverse cervicotomy. This technique involves the resection of the cyst with its tract and the central portion of the hyoid bone body to avoid recurrence. The transoral vestibular approach has gained popularity as an alternative approach to open neck surgery in order to eliminate the transcervical scar associated with these procedures. Methods: We describe a case of an endoscopic Sistrunk procedure performed by the transoral vestibular approach. A scoping review of the transoral endoscopic vestibular approach Sistrunk procedure (TEVAS) was performed. The PubMed, Medline, Cochrane, Lilacs, Scielo, Mary Ann Libert and Scopus databases were systematically searched by using a Medical Subject Heading (MeSH)-optimized search strategy. The selection of papers followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines after setting inclusion and exclusion criteria. Results: The case was successful and without complications. Five studies were included in the final analysis for this review. Conclusions: This novel approach to the Sistrunk procedure is an effective alternative way to treat TGDC in selected patients who are motivated to avoid a visible neck scar.