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Cancers Apr 2024Head and neck paragangliomas (HNPGLs) are rare and have high rates of genetic mutations. We conducted a retrospective review of 187 patients with 296 PGLs diagnosed...
Head and neck paragangliomas (HNPGLs) are rare and have high rates of genetic mutations. We conducted a retrospective review of 187 patients with 296 PGLs diagnosed between 1974 and 2023. The mean age of diagnosis was 48.8 years (range 10 to 82) with 69.0% female and 26.5% patients with multiple PGLs. Among 119 patients undergoing genetic testing, 70 (58.8%) patients had mutations, with SDHB (30) and SDHD (26) being the most common. The rates of metastasis and recurrence were higher among patients with SDHB mutations or SDHD mutations associated with multiple PGLs. Metabolic evaluation showed elevated plasma dopamine levels were the most common derangements in HNPGL. MRI and CT were the most common anatomic imaging modalities and DOTATATE was the most common functional scan used in this cohort. Most patients (81.5%) received surgery as the primary definitive treatment, while 22.5% patients received radiation treatment, mostly as an adjuvant therapy or for surgically challenging or inoperable cases. Systemic treatment was rarely used in our cohort. Our single-center experience highlights the need for referral for genetic testing and metabolic evaluation and for a team-based approach to improve the clinical outcomes of patients with HNPGLs.
PubMed: 38672605
DOI: 10.3390/cancers16081523 -
Indian Journal of Otolaryngology and... Dec 2022Paragangliomas of the head and neck can arise in many locations along the carotid sheath and middle ear. A hypervascular tumor in relation to the major cervical vessels...
Paragangliomas of the head and neck can arise in many locations along the carotid sheath and middle ear. A hypervascular tumor in relation to the major cervical vessels can be either a carotid body tumor or vagal paraganglioma. Carotid bifurcation separation is a characteristic feature of carotid body tumours. We present a case of vagal paraganglioma of the neck, causing carotid bifurcation separation similar to that of a carotid body tumor. In this case report, we highlight the imaging features that can differentiate these two paragangliomas in such a confusing situation.
PubMed: 36742569
DOI: 10.1007/s12070-021-03005-w -
Frontiers in Endocrinology 2024Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of...
Vagal paraganglioma (VPGL) is a rare neuroendocrine tumor that originates from the paraganglion associated with the vagus nerve. VPGLs present challenges in terms of diagnostics and treatment. VPGL can occur as a hereditary tumor and, like other head and neck paragangliomas, is most frequently associated with mutations in the genes. However, data regarding the genetics of VPGL are limited. Herein, we report a rare case of a 41-year-old woman with VPGL carrying a germline variant in the gene. Using whole-exome sequencing, a variant, p.S249R, was identified; no variants were found in other PPGL susceptibility and candidate genes. Loss of heterozygosity analysis revealed the loss of the wild-type allele of the gene in the tumor. The pathogenic effect of the p.S249R variant on FH activity was confirmed by immunohistochemistry for S-(2-succino)cysteine (2SC). Potentially deleterious somatic variants were found in three genes, , , and . The latter two encode transcriptional regulators that can impact gene expression deregulation and are involved in tumor development and progression. Moreover, -mutated VPGL was characterized by a molecular phenotype different from -mutated PPGLs. In conclusion, the association of genetic changes in the gene with the development of VPGL was demonstrated. The germline variant : p.S249R and somatic deletion of the second allele can lead to biallelic gene damage that promotes tumor initiation. These results expand the clinical and mutation spectra of -related disorders and improve our understanding of the molecular genetic mechanisms underlying the pathogenesis of VPGL.
Topics: Adult; Female; Humans; Acid Anhydride Hydrolases; Cranial Nerve Neoplasms; Exome Sequencing; Germ-Line Mutation; Paraganglioma; Vagus Nerve Diseases
PubMed: 38721148
DOI: 10.3389/fendo.2024.1381093 -
International Journal of Surgery Case... Jun 2023Vagal paragangliomas of neck are rare tumours of neural crest origin usually arising in elderly age with female predominance. They have a vague clinical presentation...
INTRODUCTION AND IMPORTANCE
Vagal paragangliomas of neck are rare tumours of neural crest origin usually arising in elderly age with female predominance. They have a vague clinical presentation therefore difficult to diagnose preoperatively. We hope that this case report and literature review would add to the existing literature and help devise a comprehensive diagnostic and therapeutic plan for vagal paragangliomas.
CASE PRESENTATION
We report a case of vagal paraganglioma occurring in a 13-year-old male which is an extremely rare presentation in this age group. The patient presented with a large solitary painless progressively growing mass in posterior triangle of neck. External jugular vein was stretched and trachea was deviated medially. The mass was arising via a twig from vagus nerve and was surgically excised. Diagnosis was established post-operatively through histopathological analysis.
CLINICAL DISCUSSION
Vagal paraganglioma is a rare occurrence in male teenagers and may mimic schwannoma, neuroma, jugular meningioma, or other gangliomas. Surgical excision is mainstay of treatment but resultant vagal complications and neurological consequences are usually unavoidable. Nonetheless, the prognosis may be easily improved with sound surgical judgement, skill, and routine follow-up.
CONCLUSIONS
Vagal paraganglioma usually presents as a swelling in neck and cannot be diagnosed on simple clinical examination. CT scan and MRI are imaging modalities of choice and can be coupled with angiography to increase diagnostic accuracy. Although both radiation therapy and surgical excision have both been found to be successful treatment options, it is still unclear which is more beneficial.
PubMed: 37263007
DOI: 10.1016/j.ijscr.2023.108362 -
Cureus Oct 2021Vagal paraganglioma is a rare finding that develops from paraganglionic tissue found around the vagus nerve; it has a prevalence of 0.012% of all tumors. It is the...
Vagal paraganglioma is a rare finding that develops from paraganglionic tissue found around the vagus nerve; it has a prevalence of 0.012% of all tumors. It is the third most common paraganglioma of the head and neck but still accounts for less than 5% of these tumors, and it has a well-established female prevalence. It is a difficult tumor to identify early based on its symptoms alone and only a thorough investigation can help solidify its diagnosis. In this report, we discuss a presentation of this phenomenon that is not only unique in its manifestation but also a very difficult diagnosis due to its deceptive presentation and multiple extensions. These masses need a good surgical regime to be removed properly and postoperative complications are very frequent in most of these cases.
PubMed: 34733595
DOI: 10.7759/cureus.18423 -
Acta Medica Portuguesa Nov 2022Paragangliomas are usually benign slow-growing tumors, but they are locally invasive and can cause significant morbidity. The aim of this study was to characterize the...
INTRODUCTION
Paragangliomas are usually benign slow-growing tumors, but they are locally invasive and can cause significant morbidity. The aim of this study was to characterize the presenting symptoms, secretory status, genetics, imaging features, treatment modalities, post-treatment complications and survival of patients with head and neck paragangliomas treated at a single institution.
MATERIAL AND METHODS
We retrospectively reviewed the clinical records of patients managed at our center between 1997 and 2020.
RESULTS
Seventy-three patients were included in the study, encompassing 89 head and neck paragangliomas. Forty-eight patients (65.8%) were female and 15 (20.5%) had multiple tumor sites (including 10 patients with multicentric benign paragangliomas and five with disseminated malignant disease). Regarding location, our series encompassed 40 temporal bone paragangliomas (44.9%), 24 carotid body paragangliomas (27%), 22 vagal paragangliomas (24.7%), two laryngeal paragangliomas (2.2%) and one sinonasal paraganglioma (1.1%). Excessive catecholamine secretion was detected in 11 patients (15.1%). Sixty-four patients (87.7%) underwent genetic testing. Of those, 24 (37.5%) exhibited pathogenic succinate dehydrogenase complex germline mutations. Regarding patients who presented with untreated disease, 45 patients (66.2%), encompassing 55 tumors, underwent surgery as primary treatment modality, 20 (29.4%; 23 tumors) were initially treated with radiotherapy and three patients (4.4%, encompassing three solitary tumors) were kept solely under watchful waiting. Five-year overall survival was 94.9% and disease-free survival was 31.9%.
CONCLUSION
Head and neck paragangliomas are rare, slow-growing but locally aggressive tumors resulting in high morbidity but low mortality rates.
Topics: Humans; Female; Male; Retrospective Studies; Head and Neck Neoplasms; Paraganglioma; Paraganglioma, Extra-Adrenal; Carotid Body Tumor
PubMed: 35290759
DOI: 10.20344/amp.17185 -
Ear, Nose, & Throat Journal May 2024To summarize the clinicopathological and genetic features of malignant paragangliomas in head and neck cancer and to explore the appropriate treatment options for this...
To summarize the clinicopathological and genetic features of malignant paragangliomas in head and neck cancer and to explore the appropriate treatment options for this rare lesion. Six patients harboring head and neck malignant paraganglioma from Beijing Tongren Hospital were retrospectively reviewed. The clinicopathological characteristics, gene mutations, and prognosis of these patients were analyzed. Of these 6 patients, 3 were male and 3 were female; 4 patients harbored malignant carotid body tumors, and two had malignant vagal paragangliomas. Three patients had cervical lymph node metastasis, two presented with lung and bone metastasis, and 1 had lung and liver metastasis. Of the 6 patients, four underwent surgical resection, and the other two patients denied surgery and instead received chemotherapy with paclitaxel, ifosfamide, and dacarbazine. These 2 patients with vagal paraganglioma received postoperative radiotherapy. All 6 patients are still alive at the present time, with a median follow-up time of 66 months. Positive Ki-67 expression in tumor tissue ranged from 1% to 40%. Genetic mutations in SDHD, SDHB, ATR, and MAP3K13 were identified in 4 patients. After comprehensive treatment, head and neck malignant paraganglioma can attain a favorable prognosis. Genetic mutations are commonly detected in patients with malignant paragangliomas. This study also identified mutations in ATR and MAP3K13 in these patients.
Topics: Humans; Female; Male; Middle Aged; Retrospective Studies; Head and Neck Neoplasms; Adult; Mutation; Paraganglioma; Prognosis; Carotid Body Tumor; Succinate Dehydrogenase; Aged; Lymphatic Metastasis
PubMed: 34654328
DOI: 10.1177/01455613211052338 -
The Journal of International Advanced... Nov 2022This study aimed to review tumor control and cranial nerve function outcomes in patients with complex jugular paragangliomas and to refine the surgical strategies for...
BACKGROUND
This study aimed to review tumor control and cranial nerve function outcomes in patients with complex jugular paragangliomas and to refine the surgical strategies for complex jugular paragangliomas.
METHODS
We describe our experience with 12 patients with complex jugular paragangliomas diagnosed in our institution from January 2013 to June 2020. The main outcomes included tumor control, complications, and function of facial nerve and lower cranial nerves, postoperatively.
RESULTS
Gross-total resection was achieved for 9 (75%) patients, and subtotal resection was achieved for 3 (25%) patients. The surgical tumor control rate was 100% after a mean follow-up of 45.5 months (range, 13-111 months). Postoperatively, 10 patients (83.3%) obtained unchanged or improved facial nerve function. However, new lower cranial nerve deficits occurred in 2 patients (16.7%) due to surgical removal of the concurrent vagal paraganglioma and scar tissue enclosing the IX and XII nerves.
CONCLUSION
Our refined surgical techniques, including tension-free anterior facial nerve rerouting, sigmoid sinus tunnel-packing, and pushpacking techniques, could be a choice for the treatment of complex jugular paragangliomas to achieve tumor control and cranial nerves preservation. A 2-stage surgery should be applied to minimize the risk of bilateral cranial neuropathies and the influence on cerebral circulation in patients with bilateral paragangliomas. The preoperative endovascular intervention such as coil embolization or internal carotid artery stenting can be employed for the management of paragangliomas with internal carotid artery-associated lesions.
Topics: Humans; Carotid Stenosis; Treatment Outcome; Retrospective Studies; Stents; Glomus Jugulare Tumor; Paraganglioma
PubMed: 36349670
DOI: 10.5152/iao.2022.22675 -
Indian Journal of Otolaryngology and... Oct 2019Vagal paragangliomas are rare tumors. Advances in the imaging have aided the diagnosis and assessment of this disease. Surgery is the mainstay of the treatment however...
Vagal paragangliomas are rare tumors. Advances in the imaging have aided the diagnosis and assessment of this disease. Surgery is the mainstay of the treatment however radiotherapy has been tried in the selected cases. Surgery is associated with some mortality but with a lot of morbidity in view of cranial nerve deficit. The necessity to prevent additional cranial nerve deficits needs thorough preoperative evaluation and influences the therapeutic approach. This study involves the retrograde evaluation of five patients of vagal paraganglioma histopathologically confirmed, all the patients were operated via trancervical approach. Preoperatively three of five had 9, 11 and 12th cranial nerve involvement, one had horner's syndrome. Postoperative vocal rehabilitation was done in all the patient by medialisation thyroplasty Issiki type 1. Though vagal paragangliomas are associated with mortality and morbidity. Surgical treatment should aim at reducing mortality. Vagal nerve morbidity can be taken care as a planned and staged procedure mainly involving restoring voice as rest of concerns are taken care by compensation from opposite nerves.
PubMed: 31741999
DOI: 10.1007/s12070-018-1340-5 -
Annals of Medicine and Surgery (2012) Oct 2021and importance: Head and neck paragangliomas are slowly growing benign tumors and they originate from specialized neural crest cells. We report an unusual combined...
INTRODUCTION
and importance: Head and neck paragangliomas are slowly growing benign tumors and they originate from specialized neural crest cells. We report an unusual combined glomus vagal and jugular tumor that was rarely described in the literature to the best of our knowledge.
CASE PRESENTATION
A 51 years old female with no pathological history was presented to our ENT department with 6 months' history of a right latero cervical swelling gradually increasing in size associated with a swallowing difficulties and hoarseness. Preoperatively clinical examination had found vagal and hypoglossal nerve paralysis. Cervical CT scan and MRI had shown glomus jugular tumor. The patient underwent a surgical excision with severe swallowing difficulties and facial palsy in the immediate postoperative period with a mild recovery afterwards.
CLINICAL DISCUSSION
Paragangliomas of the mesotympanum and jugular foramen most commonly present as a vascular middle ear mass. The most common presenting symptom is pulsatile tinnitus occurring in 80% followed by hearing loss (60%). Dysfunction of cranial nerves traversing the jugular foramen may be commonly encountered with resultant abnormalities of speech, swallowing and airway function. Vagal paragangliomas are the least common of the three primary craniocervical paragangliomas. The most common presenting sign is the presence of a painless neck mass accompanied occasionally by dysphagia and hoarseness. The association of both glomus vagal and jugular tumor is rarely described in the literature to the best of our knowledge.
CONCLUSION
Head and neck paragangliomas are slowly growing benign tumors and they originate from specialized neural crest cells. Vagal paragangliomas are the least common of the three primary craniocervical paragangliomas. The association of both glomus vagal and jugular tumor is rarely described in the literature to the best of our knowledge. The choice of treatment depends on the location, size, and also biologic activity of the tumor as well as the physical condition of the patient.
PubMed: 34691440
DOI: 10.1016/j.amsu.2021.102918