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Master Thesis

L'adénome hypophysaire isolé dans le syndrome 3P (Pheochromocytoma, Paraganglioma, and Pituitary adenoma)

Abstract : Objective: Pituitary adenomas (PAs) can occur sporadically or less frequently be inherited. A syndromic association with PAs and pheochromocytoma/paraganglioma (PPGL), called “3PAs”, was recently described, and is sometimes associated with mutations in PPGL-predisposing genes such as SDHx or MAX. In “3PAs” patients, PAs can occur before PPGL. Our objective was to determine the prevalence of SDHx/MAX mutations in patients with isolated PAs and the characteristics of such patients. Design: Genes involved in PAs (AIP/MEN1/CDKN1B) or PPGLs (SDHx/MAX) were sequenced using next-generation sequencing in patients with isolated PAs. Next, we conducted a review of the published cases of PAs in the setting of “3PAs”. Results: A total of 263 patients were recruited. Seven pathogenic or likely pathogenic variants were found in AIP, 2 in MEN1, 2 in SDHA, and 1 in SDHC. The prevalence of SDHx mutations reached 1.1% (3/263). Among the thirty patients with PAs harbouring SDHx/MAX (27 from the literature and 3 from this study), 6/30 (20%) developed PAs before PPGL, and 8/30 (26.7%) had isolated PAs. Sixteen presented a familial history of PPGL/PA. The PA was a macroprolactinoma in the majority of cases and occurred at an older age than AIP/MEN1-mutated patients. Conclusion: we found for the first time SDHx mutations in patients bearing PAs without any familial or personal PPGL history suggesting a new gateway into SDHx related diseases. Nevertheless, a genetic screening of SDHx remains not justified in case of isolated PAs, except if a familial history of PPGL is present. Further studies are justified to clarify whether SDHx could be new candidate genes, particularly in familial isolated (macro)prolactinomas.
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Submitted on : Thursday, November 28, 2019 - 11:17:56 AM
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Grégory Mougel. L'adénome hypophysaire isolé dans le syndrome 3P (Pheochromocytoma, Paraganglioma, and Pituitary adenoma). Sciences du Vivant [q-bio]. 2019. ⟨dumas-02384143⟩



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