Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment

Rana, Mohammad Usman; Østhus, Arild André; Heimdal, Ketil; Jebsen, Peter; Revheim, Mona‐Elisabeth; Osnes, Terje

doi:10.1080/00016489.2020.1845397

Cited by 14 publications

(15 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…17 Up to 40% of HNPGL are associated with an identifiable germline mutation. [18][19][20][21] The presence of multifocal disease at presentation should raise suspicions for an underlying genetic mutation.…”

Section: Geneticsmentioning

confidence: 99%

“…Rana et al reported in their series that only 4 of 16 patients with a germline mutation had a positive family history at initial assessment. 20 A positive family history may be obscured for several reasons including incomplete penetrance, parent of origin effect 24 and failure to recognize combinations of tumors in various family members as linked. 20 There are several reasons why identifying a genetic mutation is important when managing a patient with HNPGL.…”

Section: Geneticsmentioning

confidence: 99%

“…20 A positive family history may be obscured for several reasons including incomplete penetrance, parent of origin effect 24 and failure to recognize combinations of tumors in various family members as linked. 20 There are several reasons why identifying a genetic mutation is important when managing a patient with HNPGL. 20 The likelihood of synchronous, metachronous, and metastatic PPGL, and risk of non-PPGL tumors will depend on the underlying mutation.…”

Section: Geneticsmentioning

confidence: 99%

“…20 There are several reasons why identifying a genetic mutation is important when managing a patient with HNPGL. 20 The likelihood of synchronous, metachronous, and metastatic PPGL, and risk of non-PPGL tumors will depend on the underlying mutation. Therefore, knowledge of an individual's mutation status will inform treatment and ongoing surveillance.…”

Section: Geneticsmentioning

confidence: 99%

“…There are also implications for family members of affected patients, including the early identification of asymptomatic disease and ongoing surveillance of affected relatives. 20,25 The Endocrine Society and European Society of Endocrinology both therefore recommend that genetic testing should be considered and discussed with all patients diagnosed with PPGL and that patients presenting with HNPGL should all be screened for SDHD, SDHB, and SDHC mutations. 25,26 Additional, targeted genetic screening may be appropriate in patients with a syndromic presentation (e.g., vHL).…”

Section: Geneticsmentioning

confidence: 99%

See 4 more Smart Citations

Contemporary management of paragangliomas of the head and neck

Cleere

Martin-Grace

Gendre

et al. 2021

Laryngoscope Investig Oto

View full text Add to dashboard Cite

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors typically arising from nonsecretory head and neck parasympathetic ganglia. Historically thought of as aggressive tumors that warranted equally aggressive surgical intervention, evidence has emerged demonstrating that the vast majority of HNPGLs are slow growing and indolent. It is also now recognized that a large proportion of HNPGLs are hereditary with succinate dehydrogenase gene mutations typically implicated.These recent advances have led to significant changes in the way in which clinicians investigate and treat HNPGLs with most now opting for more conservative treatment strategies. However, a proportion of patients present with more aggressive disease and still require nonconservative treatment strategies. Recent studies have sought to determine in which groups of patients the morbidity associated with treatment is justified. We summarize the recent advances in the understanding and management of these tumors and we provide our recommendations regarding the management of HNPGLs.

show abstract

Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

See 3 more Smart Citations

Contemporary management of paragangliomas of the head and neck

Cleere

Martin-Grace

Gendre

et al. 2021

Laryngoscope Investig Oto

View full text Add to dashboard Cite

show abstract

Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: A unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors

Javaid

Patton

Tinoco

et al. 2022

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Chromosomal translocations with gene fusions are uniquely rare events in paraganglioma, mostly involving UBTF::MAML3 gene fusion. Precedent literature suggests that tumors involving MAML3 gene fusion correlate with poor clinical outcomes. Herein, we report a case of metastatic sporadic paraganglioma harboring EWSR1::CREM gene fusion in a 36‐year‐old male, that has not been previously described. The patient presented with large paraspinal mass that was resected the same year. Tumor recurred 3‐years later and on further work‐up, patient was found to have metastases involving both lungs. Histopathologic evaluation of the original primary tumor showed tightly packed irregular nests and cords of cells containing palely eosinophilic cytoplasm. Features considered atypical included: areas of solid growth pattern, coagulative tumor necrosis, focal cellular atypia and angiolymphatic invasion were also identified. By immunohistochemistry, the tumor cells were positive for synaptophysin and chromogranin and negative for keratin. The S100 stain highlights the sustentacular cells and the Ki‐67 proliferation index of 15%. The recurrence specimen was similar but showed increased cellularity, atypia, necrosis, and proliferative activity (Ki‐67 proliferation index of 35%). CT guided biopsy of the right lung lesion was consistent with metastasis. Next generation sequencing identified EWSR1::CREM fusion. The breakpoints were found in chromosome 22: 29683123 for EWSR1 exon 7 (NM_005243.3) and at chromosome 10:35495823 for CREM exon 6 (NM_001267562.1). Fluorescence in situ hybridization for EWSR1 gene rearrangement was positive. In summary, we report a case of metastatic paraganglioma with EWSR1::CREM gene fusion, not previously described in this entity, and expands on the phenotypic diversity within the genetic landscape of EWSR1::CREM gene fusion positive tumors.

show abstract

An Update on Temporal Bone Paragangliomas

Zhong

Zuo

2023

Curr. Treat. Options in Oncol.

View full text Add to dashboard Cite

Opinion statementTemporal bone paragangliomas (TBPs) are indolent, classically benign and highly vascular neoplasms of the temporal bone. There are two types of TBPs, tympanomastoid paragangliomas (TMPs) and tympanojugular paragangliomas (TJPs). The most common symptoms are hearing loss and pulsatile tinnitus. Diagnostic workup, besides conventional physical and laboratory examinations, includes biochemical testing of catecholamine and genetic testing of SDHx gene mutations as well as radiological examination. Although surgery is traditionally the mainstay of treatment, it is challenging due to the close proximity of tumor to critical neurovascular structures and thus the high risk of complications, especially in patients with advanced lesions. Radiotherapy and active surveillance have been increasingly recommended for selected patients. Decision on treatment should be made comprehensively. Curative effect depends on various factors. Long-term follow-up with clinical, laboratory, and radiological examinations is essential for all patients.

show abstract

Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment

Cited by 14 publications

References 19 publications

Contemporary management of paragangliomas of the head and neck

Contemporary management of paragangliomas of the head and neck

Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: A unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors

An Update on Temporal Bone Paragangliomas

Contact Info

Product

Resources

About