Tung Moon Ley, Chandra Bharatendu, Dillahunt Kyle, Gosse Matthew D, Sato T Shawn, Sidhu Alpa
Division of Medical Genetics and Genomics, The Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
Front Oncol. 2022 Jul 7;12:925582. doi: 10.3389/fonc.2022.925582. eCollection 2022.
Von Hippel Lindau(VHL)syndrome presents with cerebellar and spinal hemangioblastomas, renal cell cancer, neuroendocrine pancreatic tumor, and pheochromocytoma and it is caused by germline mutations in the gene. Pathogenic germline variants in the succinate dehydrogenase A () gene are associated with paraganglioma and pheochromocytoma. Here we report co-occurrence of germline pathogenic variants in both and genes in a patient who presented with pancreatic neuroendocrine tumor. As these genes converge on the pseudo-hypoxia signaling pathway, further studies are warranted to determine the significance of co-occurrence of these variants in relation to tumor penetrance, disease severity, treatment response and clinical outcomes in this selected group of patients.
冯·希佩尔-林道（VHL）综合征表现为小脑和脊髓血管母细胞瘤、肾细胞癌、神经内分泌胰腺肿瘤和嗜铬细胞瘤，它由该基因的种系突变引起。琥珀酸脱氢酶A（）基因中的致病性种系变异与副神经节瘤和嗜铬细胞瘤有关。在此，我们报告一名患有胰腺神经内分泌肿瘤的患者同时存在和基因的种系致病性变异。由于这些基因都汇聚于假性低氧信号通路，因此有必要进一步研究以确定这些变异同时出现对于这一特定患者群体的肿瘤发生率、疾病严重程度、治疗反应和临床结局的意义。
