Malignant transformation of fibrous dysplasia lesions has been reported in patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS). Recently, we have observed an increased risk for breast cancer. In this study, the prevalence of skeletal and extraskeletal malignancies in patients with FD/MAS in the Netherlands was assessed by analyzing data from our cohort of FD/MAS patients, the Dutch Pathology Registry (PALGA), and the Netherlands Cancer Registry (NCR). We extracted data on sex, age at diagnosis of FD/MAS, type of FD/MAS, type of malignancy, and age at diagnosis of malignancy and histology of bone and malignant tissue when available, including GNAS-mutation analysis from patients’ medical records. Standardized Morbidity Ratios (SMRs) with 95% confidence intervals were calculated. Twelve malignancies were identified in the LUMC FD/MAS cohort and 100 in the PALGA cohort. In this cohort, SMR was increased for osteosarcoma (19.7, 95% CI 3.5–48.9), cervical cancer (4.93, 95%CI 1.7–8.2), thyroid cancer (3.71, 95% CI 1.1–7.8), prostate cancer (3.08, 95% CI 1.8–4.6), and melanoma (2.01, 95%CI 1.2–3.1). SMRs for pancreatic cancer or hepatocellular carcinoma could not be calculated due to low numbers. The small number of malignancies identified in our FD/MAS cohort precluded the calculation of SMRs for our cohort specifically. Our findings show that patients with FD/MAS appear to have an increased risk for osteosarcoma, cervical, thyroid, and prostate cancer and melanoma. However, these data should be interpreted with caution, as true incidence rates of the identified malignancies may be influenced by the inclusion of only patients with histologically confirmed FD/MAS. The etiology of this increased risk for malignancies still needs to be elucidated.

据报道，纤维异常增生/McCune-Albright 综合征 (FD/MAS) 患者出现纤维异常增生病变的恶性转化。最近，我们观察到患乳腺癌的风险增加。在这项研究中，通过分析来自我们的 FD/MAS 患者队列、荷兰病理学登记处 (PALGA) 和荷兰癌症登记处 (NCR) 的数据，评估了荷兰 FD/MAS 患者骨骼和骨骼外恶性肿瘤的患病率. 我们提取了性别、FD/MAS 诊断年龄、FD/MAS 类型、恶性肿瘤类型、恶性肿瘤诊断年龄以及骨骼和恶性组织（包括GNAS）组织学的数据- 来自患者病历的突变分析。计算了具有 95% 置信区间的标准化发病率 (SMR)。在 LUMC FD/MAS 队列中发现了 12 种恶性肿瘤，在 PALGA 队列中发现了 100 种恶性肿瘤。在该队列中，骨肉瘤 (19.7, 95% CI 3.5–48.9)、宫颈癌 (4.93, 95% CI 1.7–8.2)、甲状腺癌 (3.71, 95% CI 1.1–7.8)、前列腺癌 (3.08) 的 SMR 增加, 95% CI 1.8–4.6) 和黑色素瘤 (2.01, 95% CI 1.2–3.1)。由于数字低，无法计算胰腺癌或肝细胞癌的 SMR。在我们的 FD/MAS 队列中发现的少量恶性肿瘤排除了我们队列的 SMR 计算。我们的研究结果表明，FD/MAS 患者患骨肉瘤、宫颈癌、甲状腺癌、前列腺癌和黑色素瘤的风险似乎增加。然而，应谨慎解释这些数据，因为仅纳入组织学证实为 FD/MAS 的患者可能会影响已识别恶性肿瘤的真实发病率。这种增加的恶性肿瘤风险的病因仍有待阐明。