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A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

ABSTRACT: Head and neck paragangliomas Paragangliomas and pheochromocytomas are rare, mostly benign neuroendocrine tumors, which are embryologically derived from neural crest cells of the autonomic nervous system. Paragangliomas are essentially the extra-adrenal counterparts of pheochromocytomas. As such this family of tumors can be subdivided into head and neck paragangliomas, pheochromocytomas and thoracic and abdominal extra-adrenal paragangliomas. Ten out of fifteen genes that contribute to the development of paragangliomas are more susceptible to the development of head and neck paragangliomas when mutated. Gene expression profiling revealed that pheochromocytomas and paragangliomas can be classified into two main clusters (C1 and C2) based on transcriptomes. These groups were defined according to their mutational status and as such strongly associated with specific tumorigenic pathways. The influence of the main genetic drivers on the somatic molecular phenotype was shown by DNA methylation and miRNA profiling. Certain subunits of succinate dehydrogenase (SDHx), von Hippel-Lindau (VHL) and transmembrane protein 127 (TMEM127) still have the highest impact on development of head and neck paragangliomas. The link between RAS proteins and the formation of pheochromocytoma and paragangliomas is clear due to the effect of receptor tyrosine-protein kinase (RET) and neurofibromatosis type 1 (NF1) in RAS signaling and recent discovery of the role of HRAS. The functions of MYC-associated factor X (MAX) and prolyl hydroxylase 2 (PHD2) mutations in the contribution to the pathogenesis of paragangliomas still remain unclear. Ongoing studies give us insight into the incidence of germline and somatic mutations, thus offering guidelines to early detection. Furthermore, these also show the risk of mistakenly assuming sporadic cases in the absence of definitive family history in head and neck paragangliomas.

SUBMITTER: Guha A

PROVIDER: S-EPMC6826254 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

Guha A A Musil Z Z Vicha A A Zelinka T T Pacak K K Astl J J Chovanec M M

Neoplasma 20190629 5

Head and neck paragangliomas Paragangliomas and pheochromocytomas are rare, mostly benign neuroendocrine tumors, which are embryologically derived from neural crest cells of the autonomic nervous system. Paragangliomas are essentially the extra-adrenal counterparts of pheochromocytomas. As such this family of tumors can be subdivided into head and neck paragangliomas, pheochromocytomas and thoracic and abdominal extra-adrenal paragangliomas. Ten out of fifteen genes that contribute to the develo ...[more]

PMID: 31307198

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Project description:PurposeThe aim of this study was to demonstrate the value of DCE MRI with high spatiotemporal resolution (GRASP) for differentiating paragangliomas and schwannomas in the head and neck.MethodsIn a retrospective PACS search of in total 410 patients who had undergone head & neck GRASP-MRI, we identified 6 patients with biopsy proven cervical paragangliomas (n = 3) and schwannomas (n = 3). Conventional MRI features were evaluated, lesion size was determined. Postprocessing in 4D-GRASP datasets was performed (1) based on reconstructions with a temporal resolution (Tres) of 4.1 s, qualitative time-intensity curve classification and semiquantitative parameter (Tpeak, PH, ERmax and Slopemax) analysis, and (2) voxel-based mapping and qualitative and semiquantitative perfusion modeling based on reconstructions with a Tres of 1.6 s. Additionally, GRASP perfusion analysis was performed in another set of 5 patients with presumed cervical paragangliomas (n = 3) and schwannomas (n = 2) based on conventional imaging criteria and was correlated with conventional imaging findings. Due to the small sample size, both groups were compared qualitatively.ResultsIn the time intensity curve classification of 4D GRASP reconstructions (Tres 4.1 s), biopsy proven paragangliomas were consistently characterized by a type-III rapid inflow wash-out pattern, compared to a type-I inflow pattern in the schwannoma group. In both temporal resolutions, semiquantitative analysis of time intensity curves demonstrated rapid wash-in, wash-out, and higher peak signal intensities in paragangliomas compared to schwannomas. In 5 presumed (non-biopsy-proven) paragangliomas and schwannomas, time intensity curves improved diagnostic certainty.ConclusionsVisual time intensity curve classification and semi-quantitative analysis of GRASP-MRI were, in this small retrospective series, sufficient to differentiate cervical paragangliomas from schwannomas. Utilization of this technique may further improve diagnostic confidence in lesions lacking conventional imaging features.

Dataset Information

A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

Publications

A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

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