Multiple paragangliomas: a case report
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CASE REPORT
Open Access
Multiple paragangliomas: a case report Vladislav S. Pavlov1†, Dmitry V. Kalinin2†, Elena N. Lukyanova1, Alexander L. Golovyuk2, Maria S. Fedorova1, Elena A. Pudova1, Maria V. Savvateeva1, Anastasiya V. Lipatova1, Zulfiya G. Guvatova1, Andrey D. Kaprin3, Marina V. Kiseleva3, Tatiana B. Demidova4, Sergey A. Simanovsky4, Nataliya V. Melnikova1, Alexey A. Dmitriev1, George S. Krasnov1, Anastasiya V. Snezhkina1* and Anna V. Kudryavtseva1 From 11th International Young Scientists School “Systems Biology and Bioinformatics” – SBB-2019 Novosibirsk, Russia. 24-28 June 2019
Abstract Background: Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive. Case presentation: We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors. Conclusions: The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis. Keywords: Multiple paragangliomas, Carotid and vagal paragangliomas, SDHx, Germline and somatic mutations, High-throughput exome sequencing, Immunohistochemistry, Case report
Background Paragangliomas of the head and neck (HNPGLs) are rare neuroendocrine tumors [1]. There are several common paraganglioma localizations corresponding to the locations of paraganglia from which they are formed. Carotid paragangliomas (CPGLs) are most common, followed by middle ear paragangliomas, vagal (VPGL), and laryngeal paragangliomas [2]. These tumors are highly hereditary * Correspondence: [email protected] † Vladislav S. Pavlov and Dmitry V. Kalinin contributed equally to this work. 1 Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 32 Vavilova str, Moscow 119991, Russia Full list of author information is available at the end of the article
and associated with the germline mutations in known susceptibility genes, including SDHx, SDHAF2, TMEM127, MAX, and others [3]. Mutations in these genes predispose to different forms of paragangliomas (early, syndromic, multiple, and malignant). HNPGLs commonly develop as single unilateral tumors, with only 1% of sporadic cases being multiple [4]. However, the number of multiple HNPGLs grea
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