Malignant peripheral nerve sheath tumor mimicking carotid body tumor, a rare case report and review of literature.

INTRODUCTION AND IMPORTANCE: Malignant Peripheral Nerve Sheath Tumor (MPNST) is a rare type of soft tissue sarcoma. It is an aggressive tumor with high rates of local recurrence and distant metastasis. MPNST rarely occurs in the neck. We present a case of cervical MPNST manifesting as Carotid Body Tumor (CBT). CASE PRESENTATION: A 67-year-old man presented with a neck mass. The mass was rapidly enlarging and imaging studies favored CBT. A previous attempt at surgical resection failed, and the compressive symptoms were progressive during recent weeks. After multidisciplinary discussion, the tumor was resected and pathological evaluation confirmed the diagnosis of MPNST. Post-operative metastatic work-up showed lung metastasis, and the patient died approximately one year after surgery. CLINICAL DISCUSSION: Cervical MPNST is rare, and surgery is the mainstay of its treatment. Pre-operative tissue diagnosis is recommended when possible, and immunohistochemical staining is necessary for prompt diagnosis. Adjuvant therapy may be helpful in metastatic cases or incomplete resection. Nevertheless, local recurrence and distant metastasis especially to the lungs are common, as in our case. CONCLUSION: MPNST is one of the potential causes of cervical masses and considering its invasive behavior, surgical resection is recommended as soon as the diagnosis is made.

Well-Differentiated Liposarcoma of the Posterior Neck: A Case Report.

Soft tissue sarcoma is a rare differential diagnosis for masses arising in the head and neck regions and should be evaluated carefully. We report a case of a patient with a large posterior neck mass. Initially, the mass was suspected to be an intermuscular lipoma based on computed tomography (CT) scan and magnetic resonance imaging (MRI) findings, which showed a large, well-defined, lobulated intermuscular fatty mass. The mass was excised through a cervical incision while preserving the surrounding vital muscular and neurovascular structures. Histopathological examination revealed a well-differentiated liposarcoma (WDLS) with adipocytes of various sizes, scattered nuclear atypia, and expanded fibrous septa containing atypical stromal spindle cells positive for MDM2 staining. These findings confirmed the mass as a WDLS. We describe our approach to the diagnosis and treatment of this condition in detail.

A Veiled Lymphatic Malformation: Stridor in a Child.

Lymphatic malformation (LM) is a congenital lymphatic dysplasia associated with the p110α subunit of PI3K (PIK3CA) mutation. A two-year-old boy presented with a history of noisy breathing from the age of two months, which was progressively worsening. Inspiratory stridor was audible with subcostal recession. Flexible nasopharyngolaryngoscopy (FNPLS) revealed an enlarged right arytenoid. Other supraglottic structures were normal, and bilateral vocal cords were mobile. Direct laryngoscopy showed that the right arytenoid was enlarged with a smooth surface. On the subsequent visit, there was a painless soft lateral neck swelling, 4 cm x 4 cm in size, with normal skin. MRI confirmed LM with the predominantly macro-cystic component, involving primarily the right neck and upper mediastinum, causing airway compression. Sirolimus therapy was initiated, and at one month of follow-up after the treatment, his stridor had improved. The incidence of stridor secondary to head and neck tumors such as teratomas, hemangiomas, and LM accounts for less than 3%. The typical manifestation of LM often involves a painless, soft, and compressible mass that progressively increases in size. Features of macrocystic LM on MRI are multilocular and hyperintense cystic mass on T2-weighted imaging. The treatment methods for LM include surgical and non-surgical options. Despite being an off-label application, the response rate of sirolimus therapy in children with LM is reported to be 91%, and the first clinical response was observed in less than three weeks. Stridor is frequently encountered in children but rarely due to head and neck tumors. However, as in our case, a large LM may cause recurrent airway obstruction, and the neck swelling may appear later. Atypical airway findings, especially endoscopic examination, in a child with stridor should be complemented with imaging to examine the possibility of extra-laryngeal mass or external compression.

Three-Month History of Lymphadenopathy Caused by Bartonella henselae in a 13-Year-Old Following a Dog Scratch.

We reported the case of a 13-year-old immunocompetent boy presenting with a right cervical neck mass. He complained of fatigue, back pain, coughing, and a right neck mass persisting for three months. He did not have a fever, but his parents reported he had lost 20 lbs. in the past six months without any change in diet or appetite. They are also very concerned about the risk of malignancy. During the initial work-up, there was no abnormality in the complete blood count. During the follow-up visit 10 days later, he complained of new-onset dysphagia and throat pain. The mass was about 5 cm on the right neck, poorly mobile, and mildly tender to palpation. It looks significantly different compared to the first visit. Blood serology tests were indicated, and titers of cytomegalovirus (CMV), Epstein-Barr virus (EBV), and toxoplasma were not reactive. However, serology detected that IgM and IgG titers to Bartonella henselae were ≥1:20 and ≥1:1024, respectively. A fine needle aspiration (FNA) of the mass on the same day revealed lymphoid proliferation. Afterward, the patient was treated with amoxicillin-clavulanic acid for two weeks. After three weeks, the mass almost disappeared, and the patient reported a remarkable improvement in symptoms. This case report is a helpful reminder that B. henselae should be suspected on the differential diagnoses in a case of lymphadenopathy associated with non-specific symptoms such as fatigue, back pain, and weight loss.

A rare case of spontaneous carotid sheath abscess presenting as a painful neck mass.

Infections of the carotid arteries and sheath without any underlying etiology are extremely uncommon. In this article, we report the successful open repair of a right carotid sheath abscess in a 71-year-old woman with multiple comorbidities. The repair consisted of excision of the affected carotid segment and reconstruction by interposition of a reversed great saphenous vein graft. Postoperative Doppler ultrasound examination showed patent right carotid artery, and the patient demonstrated no recurrence postoperatively. This case suggests that, although rare, spontaneous carotid sheath remains a possible cause of neck mass, warranting high suspicion index for optimal treatment in a timely manner to avoid further complications.

Sequelae of carotid endarterectomy patch infection: An otolaryngologist perspective.

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.

Thyroid involvement in cystic echinococcosis: a systematic review.

BACKGROUND: Thyroid Hydatid Cyst (THC), a pathological state induced by the larval form of Echinococcus granulosus, represents a multifaceted clinical entity with nonspecific symptoms, making both diagnosis and treatment intricate. The current understanding of THC's attributes is somewhat limited. To gain a broader perspective on the disease's clinical and epidemiological characteristics, we have systematically reviewed the existing literature. METHODS: We performed an extensive review of articles on THC across four key scientific databases: PubMed, Scopus, Web of Science, and Google Scholar. Our study encompassed all patients diagnosed with THC through post-surgical pathology or Fine Needle Aspiration Cytology (FNAC) examinations, extracting clinical, epidemiological, and therapeutic data of THC patients from publications up to October 2023. RESULTS: From 770 articles, 57 met our criteria, detailing 75 THC patients. The gender ratio was 2.36 females per one male. The patients averaged 36.1 years old, with common symptoms including neck mass, hoarseness, shortness of breath, and dysphagia. The left lobe was involved in most patients, and only 21.3% had extrathyroidal involvement. Cysts averaged 36.4 mm in diameter, with cystic nodules being the most frequent imaging finding (91.2%). Serological tests were performed for 42.6% of cases, of which 62.5% were positive. Surgery was undertaken in 71 patients (94.6%). CONCLUSION: Cystic echinococcosis (CE) of the thyroid should be considered as part of the differential diagnosis in patients with cervicofacial mass, especially in endemic countries. The present study provides reliable data to improve our understanding of the features of the disease for a better diagnosis and management.

Neck paragangliomas: a case report and literature review.

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.

Spindle epithelial tumor with thymus-like elements (SETTLE): a diagnostic challenge with distinct therapeutic implication; case report.

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.

An overview of the contemporary diagnosis and management approaches for anaplastic thyroid carcinoma.

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.