Radomska Katarzyna, Leszczyńska Zofia, Becht Rafal, Zaborek-Łyczba Monika, Rzepakowska Anna, Lubiński Jakub, Szymański Marcin
Department of Otolaryngology, Pomeranian Medical University, Szczecin, Poland.
Department of Oncology, Pomeranian Medical University, Szczecin, Poland.
Front Neurol. 2024 Aug 29;15:1437027. doi: 10.3389/fneur.2024.1437027. eCollection 2024.
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, Mannelli, Neumann, Gupta. 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.
副神经节瘤是起源于位于肾上腺、胸部、腹部、骨盆以及头颈部的自主神经系统室旁体的罕见肿瘤。这类肿瘤占头颈部癌症的0.5%，占所有癌症的0.03%，其发病率估计为每年1 - 30/10万。头颈部副神经节瘤（HNPGL）位于颈动脉体、鼓室或颈静脉孔。已证实HNPGL可能与琥珀酸脱氢酶（SDH）复合体的突变有关，其中SDHD最为常见。然而，SDHB、SDHC和SDHAF也是潜在病因。上述突变受多种风险因素影响，包括年轻、有副神经节瘤家族史、存在转移以及性别。本研究的目的是总结对头颈部副神经节瘤患者进行基因检测的结果，并根据文献中发表的既往研究，为HNPGL患者创建一种可用于日常实践的最新基因诊断算法。几篇论文观察到，在SDHD突变携带者中，大多数或所有被研究对象都患有HNPGL，并且在存在转移的情况下更频繁地发现SDHB突变。基于这些结果，得出结论：对于没有家族史阳性的患者，没有进行VHL基因检测的依据。在不同作者提出的每种算法中，根据作者引用的研究以及我们论文中的分析，分析了合理基因诊断的建议。为了分析治疗算法，纳入了以下算法：Martin、Mannelli、Neumann、Gupta。随后，分析了与HNPGL基因诊断相关的出版物，根据最新的基因研究验证所提出的算法，并建立更新的诊断管理方案。
