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Ear, Nose, & Throat Journal Jun 2023Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles.
INTRODUCTION
Extirpation of multiple head and neck paragangliomas carries challenge due to close anatomic relationships with critical neurovascular bundles.
OBJECTIVES
This study aims to assess whether the application of 3-D models can assist with surgical planning and treatment of these paragangliomas, decrease surgically related morbidity and mortality.
METHODS
Fourteen patients undergoing surgical resection of multiple head and neck paragangliomas were enrolled in this study. A preoperative 3-D model was created based on radiologic data, and relevant critical anatomic relationships were preoperatively assessed and intraoperatively validated.
RESULTS
All 14 patients presented with multiple head and neck paragangliomas, including bilateral carotid body tumors (CBT, n = 9), concurrent CBT with glomus jugulare tumors (GJT, n = 4), and multiple vagal paragangliomas (n = 1). Ten patients underwent genomic analysis and all harbored succinate dehydrogenase complex subunit D (SDHD) mutations. Under guidance of the 3-D model, the internal carotid artery (ICA) was circumferentially encased by tumor on 5 of the operated sides, in 4 (80%) of which the tumor was successfully dissected out from the ICA, whereas ICA reconstruction was required on one side (20%). Following removal of CBT, anterior rerouting of the facial nerve was avoided in 3 (75%) of 4 patients during the extirpation of GJT with assistance of a 3-D model. Two patients developed permanent postoperative vocal cord paralysis. There was no vessel rupture or mortality in this study cohort.
CONCLUSION
The 3-D model is beneficial for establishment of a preoperative strategy, as well as planning and guiding the intraoperative procedure for resection of multiple head and neck paragangliomas.
Topics: Humans; Head and Neck Neoplasms; Paraganglioma, Extra-Adrenal; Paraganglioma; Carotid Body Tumor; Glomus Jugulare Tumor
PubMed: 33829883
DOI: 10.1177/01455613211009441 -
Annals of Medicine and Surgery (2012) Jun 2021Head and neck paragangliomas are rare vascular tumors derived from the paraganglionic system, located at the carotid body, jugular vein, tympanic cavity and vagal nerve....
Head and neck paragangliomas are rare vascular tumors derived from the paraganglionic system, located at the carotid body, jugular vein, tympanic cavity and vagal nerve. From 2010 to 2020, a cohort of 26 patients divided in two groups, 15 with cervical paragangliomas and 11 with temporal bone paragangliomas, was reviewed by analysing the medical history, the epidemiological and clinical parameters, the imaging results and classification, the modality of treatment and outcome. Cervical paragangliomas present as firm and pulsatile mass with the characteristic aspect of "salt and pepper" on MRI T1 weighted sequences. The most common type on Shamblin classification was the type II. Total surgical resection was performed in 93,33% of cases. The sensitivity of MRI in the diagnosis of vagal paragangliomas was up to 75%, with a specificity of 90,91% and the correlation of the MRI results and the findings of surgical exploration is significant with p ⩽ 0.02. Temporal bone paragangliomas appear as pulsatile mass behind the tympanic membrane, causing variable hearing loss in 90,90% of the cases. The facial nerve is the most frequently affected cranial nerve, in 36,36% of the cases. The main type according to FISH classification is the type B. Embolization was performed in all type C tumors. Surgery was the first line treatment while the inoperable patients were considered for radiotherapy. The aim of this study is to report the main clinical features of head and neck paragangliomas, the imaging tools and findings evaluating their sensitivity and specificity and the treatment protocol and outcome.
PubMed: 34094530
DOI: 10.1016/j.amsu.2021.102412 -
Endocrine-related Cancer Mar 2022Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin that occur at variable locations and are often secondary to germline mutations in succinate...
Head and neck paragangliomas (HNPGLs) are tumors of parasympathetic origin that occur at variable locations and are often secondary to germline mutations in succinate dehydrogenase (SDH) subunit genes. Occasionally, these tumors produce catecholamines. Here, we assessed whether different locations of HNPGLs relate to the presence of SDHx mutations, catecholamine production and other presentations. In this multicenter study, we collected clinical and biochemical data from 244 patients with HNPGLs and 71 patients without HNPGLs. We clarified that jugulotympanic HNPGLs have distinct features. In particular, 88% of jugulotympanic HNPGLs arose in women, among whom only 24% occurred due to SDHx mutations compared to 55% in men. Jugulotympanic HNPGLs were also rarely bilateral, were of a smaller size and were less often metastatic compared to carotid body and vagal HNPGLs. Furthermore, we showed that plasma concentrations of methoxytyramine (MTY) were higher (P < 0.0001) in patients with HNPGL than without HNPGL, whereas plasma normetanephrine did not differ. Only 3.7% of patients showed strong increases in plasma normetanephrine. Plasma MTY was positively related to tumor size but did not relate to the presence of SDHx mutations or tumor location. Our findings confirm that increases in plasma MTY represent the main catecholamine-related biochemical feature of patients with HNPGLs. We expect that more sensitive analytical methods will make biochemical testing of HNPGLs more practical in the future and enable more than the current 30% of patients to be identified with dopamine-producing HNPGLs. The sex-dependent differences in the development of HNPGLs may have relevance to the diagnosis, management and outcomes of these tumors.
Topics: Catecholamines; Dopamine; Female; Head and Neck Neoplasms; Humans; Male; Mutation; Normetanephrine; Paraganglioma; Succinate Dehydrogenase
PubMed: 35171114
DOI: 10.1530/ERC-21-0359 -
Diagnostics (Basel, Switzerland) Dec 2021Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the...
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the management of these tumors. The two main aims of any treatment approach are long-term tumor control and minimal cranial nerve morbidity. The scope of this article is to present our case series of HNPGLs to stress most important clinical aspects of their presentation as well as critical issues of their complex management. Thirty patients with suspected HNPGLs were referred to our otorhinolaryngology clinic for surgical consultation between 2016-2020. We assessed the demographical pattern, clinicoradiological correlation, as well as type and outcome of treatment. A total of 42 non-secretory tumors were diagnosed-16.7% were incidental findings and 97% patients had benign tumors. Six patients had multiple tumors. Jugular paragangliomas were the most commonly treated tumors. Tumor control was achieved in nearly 96% of operated patients with minimal cranial nerve morbidity. Surgery is curative in most cases and should be considered as frontline treatment modality in experienced hands for younger patients, hereditary and secretory tumors. Cranial nerve dysfunction associated with tumor encasement is a negative prognostic factor for both surgery and radiotherapy. Multifocal tumors and metastasis are difficult to treat, even with early detection using genetic analysis. Detecting malignancy in HNPGLs is challenging due to the lack of histomorphological criteria; therefore, limited lymph node dissection should be considered, even in the absence of clinical and radiological signs of metastasis in carotid body, vagal, and jugular paragangliomas.
PubMed: 35054195
DOI: 10.3390/diagnostics12010028 -
OTO Open 2024High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the...
OBJECTIVES
High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the clinical presentation, pattern, altitude of residence, distribution, management, and follow-up of head and neck paragangliomas (HNPGL) in our sub-Himalayan population.
STUDY DESIGN
Retrospective cohort study.
SETTING
Academic tertiary care hospital.
METHODS
Hospital records of 20 patients of HNPGL diagnosed from December 2017 to December 2021 were retrieved for analysis.
RESULTS
Twenty patients with 23 HNPGL, with a mean age of 41.74 years were managed in our institute. The female-to-male ratio was 2.3: 1 and the mean follow-up was 29.95 months. Nine had carotid body (CBPGL), 7 had tympanic (TPGL), 2 had jugular (JPGL), and 2 had vagal paragangliomas (VPGL). Multiple PGL were seen in 4 patients (20%). Majority of cases (all CBPGL and 57.14% of TPGL) were residents of the high altitude, and the rest were from the low altitude. Fifteen patients (8 CBPGL, 7 TPGL) were operated. There were no major complications except in a patient with large carotid body tumor required anastomosis of carotid artery. Five patients received stereotactic radiotherapy, and 1 malignant PGL received chemoradiotherapy.
CONCLUSION
In this study, JPGL and VPGL are common at low altitudes, whereas carotid body and tympanic PGL were the most common tumor at high altitudes. Being a retrospective and study small sample size, a definite conclusion is not established, however, a genetic analysis and inclusion of a wider population in a future prospective study may establish the hypothesis.
PubMed: 38357702
DOI: 10.1002/oto2.112 -
BMC Medical Genomics Sep 2020Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid...
BACKGROUND
Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the tumors raise significant challenges. Besides, the genetic and molecular mechanisms behind VPGL pathogenesis are poorly understood.
METHODS
The collection of VPGLs obtained from 8 patients of Russian population was used in the study. Exome library preparation and high-throughput sequencing of VPGLs were performed using an Illumina technology.
RESULTS
Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases. Moreover, likely pathogenic missense variants were also detected in SDHAF3 and SDHAF4 genes encoding for assembly factors for the succinate dehydrogenase (SDH) complex. In a patient, we found a novel variant of the IDH2 gene that was predicted as pathogenic by a series of algorithms used (such as SIFT, PolyPhen2, FATHMM, MutationTaster, and LRT). Additionally, pathogenic/likely pathogenic variants were determined for several genes, including novel genes and some genes previously reported as associated with different types of tumors.
CONCLUSIONS
Results indicate a high heterogeneity among VPGLs, however, it seems that driver events in most cases are associated with mutations in the SDHx genes and SDH assembly factor-coding genes that lead to disruptions in the SDH complex.
Topics: Adult; Aged; Cranial Nerve Neoplasms; DNA Mutational Analysis; Female; High-Throughput Nucleotide Sequencing; Humans; Middle Aged; Mutation; Paraganglioma; Succinate Dehydrogenase; Vagus Nerve Diseases
PubMed: 32948195
DOI: 10.1186/s12920-020-00763-4 -
Cureus Mar 2024Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system....
Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system. This system originates from neural crest cells and can undergo neoplastic transformation. PGLs can arise either inside or outside the adrenal glands. Head and neck PGLs are very scarce. The primary locations where this tumor commonly originates within this region are the carotid body, jugular bulb, and vagal body. Hence, in our case report, we attempt to highlight the uncommon presentation of this disease in a 46-year-old female, who initially presented with hypertension and persistent dysphonia. The patient underwent successful external radiotherapy. This case report aims to raise awareness of the characteristics of these rare malignancies.
PubMed: 38586626
DOI: 10.7759/cureus.55720 -
Journal of Surgical Case Reports Apr 2021Paragangliomas (PGs) are extremely rare multicentric neoplasms. Hereditary or familial PGs are associated with germline mutations in succinate dehydrogenase genes, seen...
Paragangliomas (PGs) are extremely rare multicentric neoplasms. Hereditary or familial PGs are associated with germline mutations in succinate dehydrogenase genes, seen in one-third of cases. Primary PGs of the thyroid are uncommon neuroendocrine neoplasms that account for 0.012% of all head and neck lesions. Although majority of these tumors are solitary, familial PGs are associated with synchronous tumors (carotid/vagal). We report an interesting case of primary thyroid PG in a patient with a previous history of a right carotid body, right vagal PGs and positive familial history, confining the differential diagnosis to recurrent lesions, which is the most common occurrence or new primary or a metastatic lesion. However, long interval and surgical anatomy suggests the diagnosis to be a primary lesion. In conclusion, although these lesions present multicentrically present at varying intervals, their occurrence at anatomically distinct sites should raise the concern for a new primary PG.
PubMed: 33936587
DOI: 10.1093/jscr/rjab102 -
BMJ Case Reports Jul 2021Vagal paragangliomas (VPs) are a rare subset of neuroendocrine tumour derived from paraganglia located in the head/neck that are usually indolent in nature. Typical...
Vagal paragangliomas (VPs) are a rare subset of neuroendocrine tumour derived from paraganglia located in the head/neck that are usually indolent in nature. Typical clinical presentations include pulsatile tinnitus or hoarseness associated with a neck mass. Surgery and radiation therapy remain the primary treatment modalities but come with significant morbidity including cranial nerve damage. We describe a unique case of VP in which cough was the only presenting symptom, that was exacerbated by enlargement of the tumour. Symptoms improved following radiation treatment.
Topics: Cough; Cranial Nerve Neoplasms; Head and Neck Neoplasms; Humans; Paraganglioma; Paraganglioma, Extra-Adrenal
PubMed: 34330721
DOI: 10.1136/bcr-2021-241913 -
International Journal of Surgery Case... Dec 2023Paragangliomas are rare tumors that most commonly occur in the head and neck. They are typically slow-growing tumors that are often associated with genetic syndromes and...
INTRODUCTION AND SIGNIFICANCE
Paragangliomas are rare tumors that most commonly occur in the head and neck. They are typically slow-growing tumors that are often associated with genetic syndromes and mutations in the enzyme succinate dehydrogenase.
CASE PRESENTATION
We describe a case of a male patient who presented with ear pain and dysphagia. On physical examination, there was a left neck mass and swalling in the left oropharynx. The mass was excised through a cervical approach and it was found to be a vagal paraganglioma.
CLINICAL DISCUSSION
A few cases of head and neck paragangliomas (HNPGLs) have been reported in the medical literature. These tumors often present as asymptomatic masses, but this case, the patient presented with ear pain and dysphagia the location of the mass in the parapharyngeal space presents a surgical challenge. HNPGLs should be considered in the differential diagnosis of any neck mass.
CONCLUSION
Paragangliomas are generally considered to have a good prognosis when they are completely excised. They rarely metastasize to adjacent or distant tissues. Cervical approach is a valid option for complete excision of cervical paraganglioma.
PubMed: 37984258
DOI: 10.1016/j.ijscr.2023.109025