První česká rodina se syndromem paragangliomů typu 1

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Autoři: A. Guha ¹ ; M. Chovanec ¹ ; J. Betka ² ; T. Zelinka ³ ; Z. Musil ⁴ ; J. Bouček ² ; A. Vícha ⁵ ; J. Plzák ²
Působiště autorů: Department of Otorhinolaryngology, Charles University, 3rd Faculty of Medicine and University Hospital Královské Vinohrady, Prague ¹; Department of Otorhinolaryngology and Head and Neck surgery, Charles University, 1st Faculty of Medicine and University Hospital Motol and Homolka, Prague ²; 3rd Department of Medicine, Department of Endocrinology and Metabolism of the 1st Faculty of Medicine and General University Hospital in Prague, Prague ³; Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General University Hospital in Prague ⁴; Department of Pediatric Hematology and Oncology, Charles University, 2nd Faculty of Medicine and University Hospital Motol and Homolka, Prague ⁵
Vyšlo v časopise: Otorinolaryngol Foniatr, 75, 2026, No. 3, pp. 238-242.
Kategorie: Kazuistiky
doi: https://doi.org/10.48095/ccorl2026238

Souhrn

Familiární forma paragangliomu hlavy a krku (HNPGL) je silně asociována s patogenními variantami genu pro podjednotku D komplexu sukcinátdehydrogenázy (SDHD), což vede k syndromu paragangliomů typu 1 (PGL1). Předkládáme první evidovaný rodokmen rodiny v České republice, u které byl diagnostikován syndrom PGL1. U 47letého muže byl diagnostikován karotický paragangliom. U tohoto pacienta jsme následně detekovali germinální patogenní variantu p.M1V v genu SDHD, která byla poté prokázána i u jeho dvou dcer. U obou se posléze také vyvinuly HNPGL. Paragangliomy hlavy a krku tvoří pouhé 3 % všech nádorů hlavy a krku, z nichž značný podíl je po dlouhou dobu asymptomatický. Diagnóza proto může být v asymptomatických případech snadno přehlédnuta nebo opožděná. Zdůrazňujeme význam genetického screeningu, sledování a individuálního léčebného přístupu u pacientů s germinálními patogenními variantami paragangliomů hlavy a krku.

Klíčová slova:

HNPGL – syndrom PGL1 – patogenní varianta SDHD – genetický screening

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Zdroje

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