Hernández-Ramírez Laura C, Perez-Rivas Luis Gustavo, Theodoropoulou Marily, Korbonits Márta
Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Medizinische Klinik und Poliklinik IV, LMU Klinikum, LMU München, Munich 80336, Germany.
Exp Clin Endocrinol Diabetes. 2024 Dec;132(12):678-696. doi: 10.1055/a-2337-2265. Epub 2024 Jun 3.
The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in the gene account for the most common genetic defect in corticotrophinomas, especially in females, while variants in or are associated with a subset of aggressive tumours. Germline defects have also been identified in patients with Cushing's disease: some are well-established (), while others are rare and could represent coincidences. In this review, we summarise the current knowledge on the genetic drivers of corticotroph tumorigenesis, their molecular consequences, and their impact on the clinical presentation and prognosis.
在过去10年里，垂体促肾上腺皮质激素细胞瘤的基因图谱发生了巨大变化。该基因的体细胞变化是促肾上腺皮质激素细胞瘤最常见的基因缺陷，在女性中尤为如此，而 或 基因的变异与一部分侵袭性肿瘤有关。库欣病患者也发现了种系缺陷：一些是已明确的（），而另一些则很罕见，可能是巧合。在这篇综述中，我们总结了目前关于促肾上腺皮质激素细胞瘤发生的基因驱动因素、它们的分子后果以及它们对临床表现和预后的影响的知识。
