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Frontiers in Genetics 2020Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten...
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten genes, such as , and . Elucidating the mutation prevalence is crucial for the development of genetic testing. In this study, we identified pathogenic/likely pathogenic variants in the main susceptibility genes in 102 Russian patients with HNPGLs (82 carotid and 23 vagal paragangliomas) using whole exome sequencing. Pathogenic/likely pathogenic variants were detected in 43% (44/102) of patients. We identified the following variant distribution of the tested genes: (1%), (10%), (5%), (24.5%), and (5%). variants were observed in the majority of the patients with bilateral/multiple paragangliomas. Thus, among Russian patients with HNPGLs the most frequently mutated gene was followed by , and .
PubMed: 33391357
DOI: 10.3389/fgene.2020.614908 -
Acta Endocrinologica (Bucharest,... 2023Paragangliomas are rare neuroendocrine slow-growing tumors, often asymptomatic, that originate from embryonic neural crest cell. In the head and neck area, the most...
UNLABELLED
Paragangliomas are rare neuroendocrine slow-growing tumors, often asymptomatic, that originate from embryonic neural crest cell. In the head and neck area, the most common location is the carotid body, followed, with decreasing frequency, in jugular, tympanic and vagal sites. Bilateral carotid body tumors are extremely rare.
AIM
To present the most important features of carotid body paragangliomas, illustrating the clinical characteristics, associated with a thorough analysis of the diagnostic imaging elements, but also the current therapeutic strategies, with respective anatomical, surgical considerations and potential complications that can occur. Surgical resection is the main line of treatment. The complex anatomy of the cervical region and the close relationships of carotid body paragangliomas with carotid vessels and cranial nerves, as well as its intense vascularization makes the surgical intervention a real challenge even for an experienced surgeon.
DISCUSSION
Starts from a bilateral carotid paraganglioma in a 35-year-old male, with painless lateral neck swelling, accidentally discovered by his barber about two years ago. Diagnosis was suspected on the basis of history, clinical and radiological findings. "Wait and scan" strategy plus endocrinologic assessment for MEN syndromes were considered the optimal therapeutic approach in this case.
PubMed: 37601710
DOI: 10.4183/aeb.2023.133 -
WMJ : Official Publication of the State... Sep 2023Radiation therapy may result in complications, including fibrosis, which can result in pain and difficulty with movement - especially in the neck.
BACKGROUND
Radiation therapy may result in complications, including fibrosis, which can result in pain and difficulty with movement - especially in the neck.
CASE PRESENTATION
A 52-year-old man with right-sided vague neck pain unresponsive to conservative management had a computed tomography scan that showed a vagal paraganglioma in the carotid sheath surrounding the right carotid arteries and internal jugular vein. Following radiation therapy, he noticed a new pain in his right jaw and neck worse with certain movements of the neck. Nonsurgical conservative measures including physical therapy and pharmacological management were unsuccessful. An ultrasound evaluation demonstrated fibrosis beneath the sternocleidomastoid muscle and in proximity to the carotid sheath. After careful trajectory planning using ultrasound imaging, a 25 G needle was introduced real time in proximity to the fibrosis. Using a dexamethasone/saline mixture under real-time ultrasound guidance, adhesions were released. After 3 injections, the patient reported greater than 90% pain relief, which lasted 4 months. Subsequently, he required similar injections approximately every 3 months to achieve greater than 75% pain relief.
CONCLUSIONS
This is a successful demonstration of the utility of ultrasound evaluation and guidance for adhesiolysis following radiation therapy.
Topics: Male; Humans; Middle Aged; Neck Pain; Radiation Fibrosis Syndrome; Ultrasonography; Pain Management; Ultrasonography, Interventional
PubMed: 37768775
DOI: No ID Found -
Journal of Ultrasound Sep 2021Paragangliomas are a rare form of highly vascularized tumors that originate from paraganglia Baysal (J Med Genet 39: 617-622, 2002). In the head and neck PGL arise...
Paragangliomas are a rare form of highly vascularized tumors that originate from paraganglia Baysal (J Med Genet 39: 617-622, 2002). In the head and neck PGL arise primarily in four distinct areas: vagal, middle ear, and larynx and more frequently carotid bifurcation. Imaging evaluations include sonography, color Doppler, US-elastosonography and contrast-enhanced ultrasound (CEUS). Additionally, Computed Tomography, Magnetic Resonance Imaging (MRI) as well as digital subtraction angiography can be performed Stoeckli et al. (Laryngoscope 112: 143-146, 2002). We present herein a case of a rare bilateral carotid body tumor assessed with multiparametric ultrasound evaluation, including CEUS and US-elastography.
Topics: Angiography, Digital Subtraction; Carotid Body Tumor; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Ultrasonography
PubMed: 33999368
DOI: 10.1007/s40477-021-00581-z -
International Cancer Conference Journal Jan 2022Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate...
UNLABELLED
Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate dehydrogenase. However, the correlation between genotype and phenotype among patients with carotid body tumor with gene variant remains unclear. Thus, we present a case of carotid body tumor with neck lymph metastasis caused by a novel variant, which resulted in long-term disease-free survival achieved after surgery. A 43-year-old man presented to our hospital with a 2-year history of a painless neck mass. Based on the radiographic findings, the patient was diagnosed with carotid body tumor with a possible Shamblin type III tumor. Another mass was detected and suspected to be a lymph node metastasis. The patient underwent resection of the tumor and lymph nodes. The common carotid artery, internal carotid artery, external carotid artery, internal jugular vein, vagal nerve, and hypoglossal nerve were resected with the tumor. Histopathological examination revealed a paraganglioma. The histological findings of the lymph nodes were similar to those of the carotid body tumor and were confirmed to be metastases of paraganglioma. To analyze the germline variant, a nonsense variant was detected in the gene at exon 2, c. 136C > T, p. Arg46*. During the follow-up 80 months after surgery, the patient exhibited no signs of recurrence, metastasis, or development of paragangliomas in other organs. This was the first case of carotid body tumor accompanied by neck metastasis caused by a germline nonsense variant at exon 2, c. 136C > T, p. Arg46*. Carotid body tumor with neck lymph metastasis caused by this nonsense variant could achieve long-term disease-free survival after surgery. Gene analysis, including variant, should be performed to predict the prognosis and future risk of metastasis. Genetic testing of may give a crucial information for the treatment and follow-up strategies of carotid body tumor.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s13691-021-00522-x.
PubMed: 35127314
DOI: 10.1007/s13691-021-00522-x -
Cureus Aug 2022Head and neck paragangliomas (PGLs) most commonly derive from the carotid body, jugulotympanic, vagal, and laryngeal paraganglia. Thyroid PGLs originate in the inferior...
Thyroid Paraganglioma With Medullary Carcinoma: A Unique Combination in a Patient in Association With Multiple Endocrine Neoplasia Type 2B Syndrome With Prolonged Survival.
Head and neck paragangliomas (PGLs) most commonly derive from the carotid body, jugulotympanic, vagal, and laryngeal paraganglia. Thyroid PGLs originate in the inferior laryngeal paraganglion, which may lie inside the thyroid parenchyma. Intrathyroid PGLs are rare with approximately 75 cases reported to date, mostly as solitary lesions. The coexistence of thyroid PGL with medullary thyroid carcinoma (MTC) has not been reported. Here, we report a unique case of intrathyroid PGL concomitant with MTC in the context of multiple endocrine neoplasia type 2B syndrome. Interestingly, the patient showed a prolonged survival with good clinical response to tyrosine kinase inhibitors, despite her advanced metastatic MTC. We discuss the challenges in pathology, differential diagnosis, and genetic background for the development of these thyroid lesions.
PubMed: 36176816
DOI: 10.7759/cureus.28423 -
The American Journal of Case Reports Oct 2023BACKGROUND Paragangliomas are neuroendocrine neoplasms derived from paraganglia of the sympathetic and parasympathetic nervous systems. Parasympathetic ganglia-derived...
BACKGROUND Paragangliomas are neuroendocrine neoplasms derived from paraganglia of the sympathetic and parasympathetic nervous systems. Parasympathetic ganglia-derived tumors, also called non-chromaffin, are located almost exclusively in the neck and skull base and are usually non-secretory and inactive. A case of malignant glomus jugulare with a metastatic cervical lymph node is described here. CASE REPORT A 24-year-old woman was referred to an otolaryngology clinic for concern of voice change for 1 month, which was associated with right progressive hearing loss, pulsating tinnitus, and right facial weakness. A clinical examination revealed a reddish mass in the right ear behind an intact tympanic membrane with right facial weakness of House-Brackmann grade VI. A bedside flexible nasopharyngoscopy revealed an immobile right vocal fold. A computed tomography scan of the brain revealed a destructive lesion within the right jugular foramen. The patient underwent embolization followed by glomus tumor resection via infra-temporal fossa with Fisch type A approach. Pathology revealed that the tumor was an infiltrative epithelioid tumor with a spindle and nesting pattern separated by fibrovascular stroma. The submitted lateral neck lymph node revealed a metastatic tumor. CONCLUSIONS Glomus jugulare tumors are uncommon paragangliomas, and malignant behavior with metastasis is extremely rare. Metastatic tumors are often associated with facial and vagal nerves palsy. There are no histological features that distinguish malignant glomus jugulare tumors. Malignant neoplasms are characterized by the presence of metastases. Tumors of the glomus jugulare that are malignant are treated with surgery, radiotherapy, or both. However, our search of the literature revealed no clear guidelines, given the scarcity of cases. Moreover, the presence of metastasis increases the risk of death.
Topics: Female; Humans; Young Adult; Adult; Glomus Jugulare Tumor; Glomus Tumor; Paraganglioma; Facial Paralysis; Skull Base; Neoplasms, Second Primary; Sarcoma
PubMed: 37814445
DOI: 10.12659/AJCR.940138 -
Case Reports in Veterinary Medicine 2020Pheochromocytomas are catecholamine-secreting tumors that are composed of neuroectoderm-derived chromaffin cells. An 8-year-old miniature dachshund with abdominal...
Pheochromocytomas are catecholamine-secreting tumors that are composed of neuroectoderm-derived chromaffin cells. An 8-year-old miniature dachshund with abdominal distension was diagnosed with a neuroendocrine tumor with invasion from the caudal vena cava to the right ventricular cavity. The dog died due to hypotensive shock from the vagal reflex, and on autopsy, an extra-adrenal pheochromocytoma (paraganglioma) was diagnosed in the caudal abdomen. At autopsy, the tumor plug of the caudal vena cava was confirmed. To the best of our knowledge, this is the first case report that echo-captured the extension of pheochromocytoma in the right ventricle and shows it in a figure and video file.
PubMed: 32095312
DOI: 10.1155/2020/5382687 -
Neurology India 2021
Topics: Adrenal Gland Neoplasms; Humans; Intraoperative Complications; Neurilemmoma; Pheochromocytoma
PubMed: 34979713
DOI: 10.4103/0028-3886.333509