Loizidis Sotiris, Matthaiou Christiana, Iacovou Efrosini, Pacak Karel, Grossman Ashley
Medical Oncology Department, Bank of Cyprus Oncology Center, Nicosia 2006, Cyprus.
Independent Histopathology Services, ECCLabs-IHCS, Nicosia 2020, Cyprus.
JCEM Case Rep. 2025 Aug 1;3(9):luaf166. doi: 10.1210/jcemcr/luaf166. eCollection 2025 Sep.
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome caused by genomic alterations in the tumor protein p53 () gene. The lifetime risk of developing cancer is very high, and carriers of germline pathogenic variants must be closely monitored starting from a young age. LFS is particularly associated with specific tumors, such as breast cancer, soft tissue and bone sarcomas, primary central nervous system cancers, acute leukemia, and adrenocortical carcinoma. Despite its association with a broad spectrum of malignancies, pheochromocytoma/paraganglioma (PCC/PGL) is an unusual manifestation of LFS and has only rarely been reported. Here, we present a case of a 57-year-old female patient who is a carrier of a deleterious germline pathogenic variant and developed a PCC; several years later, she had lung and bone lesions compatible with metastatic PCC. We also discuss the most recent literature regarding the genomic landscape of PCCs/PGLs and their pathogenesis in connection with pathogenic variants.
李-弗劳梅尼综合征（LFS）是一种由肿瘤蛋白p53（）基因的基因组改变引起的罕见癌症易感综合征。患癌的终生风险非常高，携带种系致病变异的个体必须从年轻时就开始密切监测。LFS特别与特定肿瘤相关，如乳腺癌、软组织和骨肉瘤、原发性中枢神经系统癌症、急性白血病和肾上腺皮质癌。尽管LFS与多种恶性肿瘤有关，但嗜铬细胞瘤/副神经节瘤（PCC/PGL）是LFS的一种不寻常表现，仅有极少的报道。在此，我们报告一例57岁女性患者，她是一种有害种系致病变异的携带者，患了PCC；几年后，她出现了与转移性PCC相符的肺部和骨骼病变。我们还讨论了关于PCCs/PGLs的基因组格局及其与致病变异相关的发病机制的最新文献。
