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SYSTEMATIC REVIEW article

Front. Neurol.
Sec. Neuro-Otology
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1437027
This article is part of the Research Topic Molecular Biology and Treatment Strategies for Tumors of Middle and Inner Ear View all articles

Algorithm of genetic diagnosis for patients with head and neck paraganglioma- update

Provisionally accepted
Katarzyna Radomska Katarzyna Radomska 1*Zofia Leszczyńska Zofia Leszczyńska 1Rafal Becht Rafal Becht 1Monika Zaborek - Łyczba Monika Zaborek - Łyczba 2Anna Rzepakowska Anna Rzepakowska 3Jakub Lubiński Jakub Lubiński 1Marcin Szymanski Marcin Szymanski 2
  • 1 Pomeranian Medical University, Szczecin, Poland
  • 2 Medical University of Lublin, Lublin, Lublin, Poland
  • 3 Medical University of Warsaw, Warsaw, Masovian, Poland

The final, formatted version of the article will be published soon.

    Paragangliomas are rare tumors originating from the paraventricular bodies of the autonomic nervous system located in the adrenal glands, chest, abdomen, pelvis and head and neck. Tumors of this type account for 0.5% of head and neck cancers, 0.03% of all cancers and their incidence is estimated at 1-30/100,000 per year. `Head and Neck Paragangliomas (HNPGL) are localized in carotid body, tympanic cavity or jugular foramen. It is established that HNPGL may be associated with mutations of the SDH complex, with SDHD being the most prevalent. However, SDHB, SDHC and SDHAF are also potential causes. The aforementioned mutations are influenced by various risk factors, including young age, a positive family history of paraganglioma, the presence of metastases and gender The purpose of this study is to summarize the results of genetic testing performed on patients with head and neck paraganglioma and to create an up-to-date genetic diagnosis algorithm for patients with HNPGL based on previous studies published in the literature that can be used in daily practice. Several papers observed that among SDHD mutation carriers, most or all of those studied had HNPGL, and SDHB mutations were more frequently found in the presence of metastasis. Based on the results, it was concluded that there is no basis for genetic testing for VHL in patients without a positive family history. In each algorithm proposed by different authors, proposals for rational genetic diagnosis were analyzed based on the studies cited by the author and the analyses included in our paper. For the analysis of the treatment algorithms, the following were included: Martin (2007), Mannelli (2009), Neumann (2009), Gupta (2019). Subsequently, publications related to the genetic diagnosis of HNPGL were analyzed to verify the proposed algorithms in light of the latest genetic studies and to establish an updated diagnostic management scheme.

    Keywords: head and neck, tumor, Paraganglioma, Paraganglioma (PG), Pheochromoacytoma, Geneti algorithm, genetic diagnosis

    Received: 23 May 2024; Accepted: 18 Jul 2024.

    Copyright: © 2024 Radomska, Leszczyńska, Becht, Zaborek - Łyczba, Rzepakowska, Lubiński and Szymanski. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Katarzyna Radomska, Pomeranian Medical University, Szczecin, Poland

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