Head and neck paragangliomas: Report of 175 patients (1989–2010)

Papaspyrou, Konstantinos; Mewes, Torsten; Rossmann, Heidi; Fottner, Christian; Schneider-Raetzke, Brigitte; Bartsch, Oliver; Schreckenberger, Mathias; Lackner, Karl J.; Amedee, Ronald G.; Mann, Wolf J.

doi:10.1002/hed.21790

Cited by 85 publications

(93 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2) (34,35). One year later, she presented with bilateral PCCs and an intra-abdominal extra-adrenal (ea) PGL and was subsequently shown to harbor a heterozygous germline SDHD mutation c.14GOA (p.Trp5X).…”

Section: Case Seriesmentioning

confidence: 99%

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

Papathomas

Gaal

Corssmit

et al. 2014

European Journal of Endocrinology

Self Cite

120

View full text Add to dashboard Cite

Objective: Although the succinate dehydrogenase (SDH)-related tumor spectrum has been recently expanded, there are only rare reports of non-pheochromocytoma/paraganglioma tumors in SDHx-mutated patients. Therefore, questions still remain unresolved concerning the aforementioned tumors with regard to their pathogenesis, clinicopathological phenotype, and even causal relatedness to SDHx mutations. Absence of SDHB expression in tumors derived from tissues susceptible to SDH deficiency is not fully elucidated. Design and methods: Three unrelated SDHD patients, two with pituitary adenoma (PA) and one with papillary thyroid carcinoma (PTC), and three SDHB patients affected by renal cell carcinomas (RCCs) were identified from four European centers. SDHA/SDHB immunohistochemistry (IHC), SDHx mutation analysis, and loss of heterozygosity analysis of the involved SDHx gene were performed on all tumors. A cohort of 348 tumors of unknown SDHx mutational status, including renal tumors, PTCs, PAs, neuroblastic tumors, seminomas, and adenomatoid tumors, was investigated by SDHB IHC. Printed in Great BritainPublished by Bioscientifica Ltd.Conclusions: These findings strengthen the etiological association of SDHx genes with pituitary neoplasia and provide evidence against a link between PTC and SDHx mutations. Somatic deletions seem to constitute the second hit in SDHB-related renal neoplasia, while SDHx alterations do not appear to be primary drivers in sporadic tumorigenesis from tissues affected by SDH deficiency.

show abstract

Section: Case Seriesmentioning

confidence: 99%

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

Papathomas

Gaal

Corssmit

et al. 2014

European Journal of Endocrinology

Self Cite

120

View full text Add to dashboard Cite

show abstract

“…5, 12 Papaspyrou et al did report one case of their 175 patient series in which the patient was found to be positive for a mutation in the SDHC gene after presenting with multiple malignant PGLs of the ITF, carotid body, and jugulotympanic region. 5 Although this observation is certainly interesting, a large amount of additional data are needed before any specific conclusions on the topic can be made.…”

Section: Discussionmentioning

confidence: 95%

“…There is also a well-established familial association that has been observed in upward of 10% of PGLs, owing predominantly to mutations in three of the four succinate dehydrogenase subunit genes (SDHB, SDHC, and SDHD). 1,5 This genetic predisposition carries an increased risk for multifocal tumor development, with an 80% chance of multicentricity in familial cases as opposed to only a 10 to 20% chance in sporadic cases. 1,5 The genetic characteristics of familial PGLs have been well described in various publications, such as Martin et al 2007 and Papaspyrou et al 2011, although SDHD is the most commonly implicated gene in the development of benign familial PGLs of the head and neck, and SDHB mutations have the highest rate of developing malignant PGLs.…”

Section: Discussionmentioning

confidence: 99%

“…1,5 This genetic predisposition carries an increased risk for multifocal tumor development, with an 80% chance of multicentricity in familial cases as opposed to only a 10 to 20% chance in sporadic cases. 1,5 The genetic characteristics of familial PGLs have been well described in various publications, such as Martin et al 2007 and Papaspyrou et al 2011, although SDHD is the most commonly implicated gene in the development of benign familial PGLs of the head and neck, and SDHB mutations have the highest rate of developing malignant PGLs. 5, 12 Papaspyrou et al did report one case of their 175 patient series in which the patient was found to be positive for a mutation in the SDHC gene after presenting with multiple malignant PGLs of the ITF, carotid body, and jugulotympanic region.…”

Section: Discussionmentioning

confidence: 99%

“…1 The infratemporal fossa (ITF) represents an especially rare location for a PGL to emerge, with only a handful of cases in the literature describing such a presentation. 4,5 Given the complex anatomy of the anterior skull base and the critical neurovascular structures within the ITF, successful resection of such a highly vascular tumor within this space presents numerous perioperative and intraoperative challenges. This report describes the management of a rare hypersecretory PGL of the infratemporal fossa.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Untitled

2015

J Neurol Surg Rep

View full text Add to dashboard Cite

IntroductionParagangliomas (PGLs) are rare and highly vascular tumors of neural crest origin that comprise only 0.6% of all head and neck tumors. 1 Formerly known as glomus tumors, or chemodectomas, PGLs develop from the extraadrenal chromaffin and chief cells of autonomic paraganglia in various locations throughout the body, usually in association with the walls of blood vessels or specific nerves. 2,3 Although these generally benign lesions most often present by exerting local effects on surrounding structures, a smaller subset of tumors can retain their neuroendocrine functionality and present with signs and symptoms of excess circulating catecholamines. These hypersecretory or functional PGLs can further complicate treatment by requiring a significant amount of autonomic pharmacotherapy to decrease the hemodynamic risks associated with any physical manipulation of the tumor itself.Of the various reported locations for PGL to develop in the head and neck, the carotid body has been cited as the most common site, followed in order of frequency by the jugulotympanic region, vagal body, and less common sites like the larynx, pharynx, and ciliary ganglion. 1 The infratemporal fossa (ITF) represents an especially rare location for a PGL to emerge, with only a handful of cases in the literature describing such a presentation. 4,5 Given the complex anatomy of the anterior skull base and the critical neurovascular structures within the ITF, successful resection of such a highly vascular tumor within this space presents numerous perioperative and intraoperative challenges. This report describes the management of a rare hypersecretory PGL of the infratemporal fossa. Case ReportA 44-year-old white man was referred to the Head and Neck Surgery service for evaluation of a right skull base mass, after Keywords ► functional paraganglioma ► infratemporal fossa ► maxillary swing ► glomus tumor Abstract Background Paragangliomas are rare neural crest tumors that can manifest in the head and neck as either functional or more commonly as nonfunctional lesions. Paragangliomas of the infratemporal fossa are exceedingly rare, with no more than a handful of documented cases. Like other tumors of this space, surgical management is challenging on account of complex anatomy and nearby critical structures. Methods A 44-year-old man presented with a right infratemporal fossa functional paraganglioma. Following preemptive embolization and autonomic pharmacotherapy, his tumor was successfully resected via a transfacial maxillary swing approach. Results This case highlights the surgical management of a functional paraganglioma of the infratemporal fossa while demonstrating the effectiveness of a transfacial maxillary swing approach for both exposure and resection. Conclusion Although this report summarizes much of the literature on paragangliomas, there is still much to uncover regarding the fundamental features and genetic etiology of these lesions.

show abstract

Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades

McCrary

Babajanian

Calquin

et al. 2019

JAMA Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

IMPORTANCE Malignant head and neck paragangliomas (HNPGLs) are rare entities, and there are limited data regarding optimal treatment recommendations to improve clinical outcomes. OBJECTIVE To classify succinate dehydrogenase (SDH) germline mutations associated with malignant HNPGLs, evaluate time from diagnosis to identification of malignant tumor, describe locations of metastases and the functional status of malignant HNPGLs, and determine the role of selective neck dissection at the time of initial surgical resection. DESIGN, SETTING, AND PARTICIPANTS A retrospective cohort study was completed of patients diagnosed with paragangliomas on various sites on the body at an academic tertiary cancer hospital between the years 1963 and 2018. A subanalysis of HNPGLs was also completed. Data regarding diagnosis, gene and mutation, tumor characteristics and location, and treatments used were reviewed between February 2017 and March 2018. MAIN OUTCOMES AND MEASURES Mutations of SDH genes associated with benign and malignant HNPGLs, treatments used, time to the discovery of malignancy, and location of metastasis. RESULTS Of the 70 patients included in the study, 40 (57%) were male, and the mean (SD) age was 47 (21.1) years. Of patients with tumors isolated to the head and neck, 38 (54%) had benign HNPGLs, which were associated with mutations in the genes SDH subunit B (SDHB) (n = 18; 47%), SDH subunit C (n = 2; 5%), and SDH subunit D (n = 18; 47%). Among those with malignant HNPGLs, all but 1 patient had mutations in SDHB (n = 5; 83%); 1 patient had no mutation associated with their disease. The average age at diagnosis for malignant HNPGLs was 35 years, while benign tumors were diagnosed at an average age at 36 years. All patients with malignant disease underwent surgery. Four patients were found to have metastasis at the time of selective neck dissection. Among patients with malignant HNPGLs, 5 (83%) were treated with adjuvant radiation, and 1 (17%) was treated with adjuvant chemotherapy. CONCLUSIONS AND RELEVANCE Malignant HNPGLs are rare entities that are difficult to diagnose and are typically identified by the presence of regional or distant metastasis. The results of this study found the prevalence of malignant HNPGLs to be 9%. These data suggest that it is beneficial to perform a selective neck dissection at the time of tumor excision. All patients with malignant HNPGLs but 1 had SDHB mutations.

show abstract

Head and neck paragangliomas: Report of 175 patients (1989–2010)

Abstract: Multifocal occurrence, potential malignancy, genetic aspects, possible coincidence of thyroid carcinoma, and hormone production have to be considered in patients with head and neck PGLs.

Cited by 85 publications

References 24 publications

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

Untitled

Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades

Contact Info

Product

Resources

About