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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 -
The Journal of Laryngology and Otology Sep 2018This prospective case series aimed to present the outcomes of immediate selective laryngeal reinnervation.
OBJECTIVE
This prospective case series aimed to present the outcomes of immediate selective laryngeal reinnervation.
METHODS
Two middle-aged women with vagal paraganglioma undergoing an excision operation underwent immediate selective laryngeal reinnervation using the phrenic nerve and ansa cervicalis as the donor nerve. Multidimensional outcome measures were employed pre-operatively, and at 1, 6 and 12 months post-operatively.
RESULTS
The voice handicap index-10 score improved from 23 (patient 1) and 18 (patient 2) at 1 month post-operation, to 5 (patient 1) and 1 (patient 2) at 12 months. The Eating Assessment Tool 10 score improved from 20 (patient 1) and 24 (patient 2) at 1 month post-operation, to 3 (patient 1) and 1 (patient 2) at 12 months. There was slight vocal fold abduction observed in patient one and no obvious abduction in patient two.
CONCLUSION
Selective reinnervation is safe to perform following vagal paraganglioma excision conducted on the same side. Voice and swallowing improvements were demonstrated, but no significant vocal fold abduction was achieved.
Topics: Adult; Cervical Plexus; Cranial Nerve Neoplasms; Deglutition Disorders; Dysphonia; Female; Humans; Laryngeal Nerves; Larynx; Middle Aged; Nerve Regeneration; Outcome Assessment, Health Care; Paraganglioma; Phonation; Phrenic Nerve; Prospective Studies; Vagus Nerve Diseases; Vocal Cord Paralysis; Vocal Cords; Voice
PubMed: 30180919
DOI: 10.1017/S0022215118000476 -
Journal of Clinical Neuroscience :... Feb 2024Head and Neck Paragangliomas are characterized by having a rich blood supply. Presurgical embolization with Onyx as a neoadjuvant treatment is not a consensus regarding... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Head and Neck Paragangliomas are characterized by having a rich blood supply. Presurgical embolization with Onyx as a neoadjuvant treatment is not a consensus regarding its efficacy and safety. Our study aimed to answer this matter through a single-arm meta-analysis.
METHODS
We systematically reviewed 4 databases. Sixteen studies were described and suitable papers were selected for meta-analysis of estimated intraoperative blood loss (EBL), percentage of tumor devascularization, and complications associated with embolization.
RESULTS
The study identified 198 patients with 203 tumors, aged between 8 and 70 years. Commonly reported symptoms included neck mass perception and cranial nerve impairment. Carotid Body Tumors were most prevalent (127, 62.5 %), followed by jugular (48, 23.6 %), or vagal (29, 14.2 %) tumors. Eight studies reported estimated intraoperative blood loss (EBL) averaging 261.89 ml (95 %CI: 128.96 to 394.81 ml). In an analysis of 9 studies, 99 % (95 %CI: 96 to 100 %) achieved 70 % or more devascularization, and 79 % (95 %CI: 58 to 100 %) achieved 90 % or more devascularization. Complications from endovascular procedures were observed in 3 % (95 %CI: 0 to 8 %) of 96 patients across 10 studies, including 4 facial nerve deficits. Eighteen postoperative neurological deficits were reported across 15 articles.
CONCLUSION
Despite acknowledged limitations, with refined indications, EVOH, especially Onyx embolization may significantly bolster patient safety, decreasing EBL and easing surgical resection. Further research with larger studies will refine criteria, optimize techniques, and improve patient care and treatment outcomes in the management of head and neck paragangliomas.
Topics: Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Blood Loss, Surgical; Paraganglioma; Carotid Body Tumor; Embolization, Therapeutic; Head and Neck Neoplasms; Treatment Outcome; Retrospective Studies
PubMed: 38244529
DOI: 10.1016/j.jocn.2024.01.017 -
Journal of Neurosurgery Jun 2016OBJECT Paragangliomas are highly vascular head and neck tumors for which preoperative embolization is often considered to facilitate resection. The authors evaluated...
OBJECT Paragangliomas are highly vascular head and neck tumors for which preoperative embolization is often considered to facilitate resection. The authors evaluated their initial experience using a dual-lumen balloon to facilitate preoperative embolization in 5 consecutive patients who underwent preoperative transarterial Onyx embolization assisted by the Scepter dual-lumen balloon catheter between 2012 and 2014. OBJECT The authors reviewed the demographic and clinical records of 5 patients who underwent Scepter-assisted Onyx embolization of a paraganglioma followed by resection between 2012 and 2014. Descriptive statistics of clinical outcomes were assessed. RESULTS Five patients (4 with a jugular and 1 with a vagal paraganglioma) were identified. Three paragangliomas were embolized in a single session, and each of the other 2 were completed in 3 staged sessions. The mean volume of Onyx used was 14.3 ml (range 6-30 ml). Twenty-seven vessels were selectively catheterized for embolization. All patients required selective embolization via multiple vessels. Two patients required sacrifice of parent vessels (1 petrocavernous internal carotid artery and 1 vertebral artery) after successful balloon test occlusion. One patient underwent embolization with Onyx-18 alone, 2 with Onyx-34 alone, and 1 with Onyx-18 and -34. In each case, migration of Onyx was achieved within the tumor parenchyma. The mean time between embolization and resection was 3.8 days (range 1-8 days). Gross-total resection was achieved in 3 (60%) patients, and the other 2 patients had minimal residual tumor. The mean estimated blood loss during the resections was 556 ml (range 200-850 ml). The mean postoperative hematocrit level change was -17.3%. Two patients required blood transfusions. One patient, who underwent extensive tumor penetration with Onyx, developed a temporary partial cranial nerve VII palsy that resolved to House-Brackmann Grade I (out of VI) at the 6-month follow-up. One patient experienced improvement in existing facial nerve weakness after embolization. CONCLUSIONS Scepter catheter-based Onyx embolization seems to be safe and effective. It was associated with excellent distal tumor vasculature penetration and holds promise as an adjunct to conventional transarterial Onyx embolization of paragangliomas. However, the ease of tumor penetration should encourage caution in practitioners who may be able to effect comparable improvement in blood loss with more conservative proximal Onyx penetration.
Topics: Balloon Occlusion; Catheters; Cerebral Angiography; Dimethyl Sulfoxide; Drug Combinations; Embolization, Therapeutic; Follow-Up Studies; Humans; Neurosurgical Procedures; Paraganglioma; Polyvinyls; Postoperative Complications; Preoperative Period; Retrospective Studies; Skull Base Neoplasms; Tantalum; Time Factors; Treatment Outcome
PubMed: 26495945
DOI: 10.3171/2015.5.JNS15124 -
Clinical Otolaryngology : Official... Oct 2016The aim of this study was to assess the reproducibility of different measurement methods and define the most workable technique for measuring head and neck... (Comparative Study)
Comparative Study
OBJECTIVES
The aim of this study was to assess the reproducibility of different measurement methods and define the most workable technique for measuring head and neck paragangliomas, to determine the best method for evaluating tumour growth. The evaluation of tumour growth is vital for a 'wait-and-scan' policy, a management strategy that became increasingly important.
STUDY DESIGN
Method comparison study.
SETTING AND PARTICIPANTS
Thirty tumours, including carotid body, vagal body, jugulotympanic tumours and conglomerates of multiple tumours, were measured in duplicate, using linear dimensions, manual area tracing and an automated segmentation method.
MAIN OUTCOME MEASURES
Reproducibility was assessed using the Bland-Altman method.
RESULTS
The smallest detectable difference using the linear dimension method was 11% for carotid body and 27% for vagal body tumours, compared with 17% and 20% for the manual area tracing method. Due to the irregular shape of paragangliomas in the temporal bone and conglomerates, the manual area tracing method showed better results in these tumours (26% and 8% versus 54% and 47%). The linear dimension method was significantly faster (median 4.27 versus 18.46 minutes, P < 0.001). The automatic segmentation method yielded smallest detectable differences between 39% and 75%, and although fast (2.19 ± 1.49 minutes), it failed technically.
CONCLUSIONS
Due to a relatively good reproducibility, fast and easy application, we found the linear dimension method to be the most pragmatic approach for evaluation of growth of carotid and vagal body paragangliomas. For jugulotympanic tumours, the preferred method is manual area tracing. However, volumetric changes of these tumours may be of less clinical importance than changes in relation to surrounding anatomical structures.
Topics: Female; Head and Neck Neoplasms; Humans; Image Interpretation, Computer-Assisted; Magnetic Resonance Angiography; Male; Paraganglioma; Reproducibility of Results; Tumor Burden
PubMed: 26452334
DOI: 10.1111/coa.12562 -
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 -
Head & Neck Feb 2016The purpose of this study was to reflect our experience in the management of multicentric head and neck paragangliomas, including genetic study and counseling,...
BACKGROUND
The purpose of this study was to reflect our experience in the management of multicentric head and neck paragangliomas, including genetic study and counseling, diagnostic tools, types of treatment, and the need for monitoring.
METHODS
A retrospective review of 24 patients with multicentric paraganglioma, including a total of 60 paragangliomas: 37 carotid body tumors, 13 jugulotympanic paragangliomas, and 10 vagal paragangliomas.
RESULTS
A total of 26 surgical procedures were performed, including the resection of 36 paragangliomas. Four tumors were pending surgery at the time of this review. Radiotherapy was administered in 7 patients with 9 tumors. A "wait-and-scan" policy with periodic MRI imaging tests was instituted for 9 patients with 12 paragangliomas.
CONCLUSION
The knowledge of the different modalities of management is especially relevant in patients with multicentric paragangliomas. In every case, benefits and potential risks of all treatment options may be taken into consideration for every individual patient.
Topics: Adult; Aged; Cranial Nerve Injuries; Female; Head and Neck Neoplasms; Humans; Male; Middle Aged; Mutation; Paraganglioma, Extra-Adrenal; Postoperative Complications; Retrospective Studies; Succinate Dehydrogenase; Watchful Waiting; Young Adult
PubMed: 26079175
DOI: 10.1002/hed.23894 -
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 -
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 -
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