Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
Program in Developmental Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4293-4303. doi: 10.1210/jc.2018-01022.
McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. The clinical spectrum and prevalence of MAS-associated GI disease is not well established.
Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.
Cross-sectional study.
National Institutes of Health Clinical Center and The Johns Hopkins Hospital.
Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).
Thirty of 54 subjects (56%) had radiographic GI abnormalities. Twenty-five (46%) of the screened subjects had IPMNs (mean age of 35.1 years). Fourteen of the 25 had IPMNs alone, and 11 had IPMNs and abnormal hepatobiliary imaging. The 30 patients with MAS-associated GI pathology had a higher prevalence of acute pancreatitis, diabetes mellitus, and skeletal disease burden of fibrous dysplasia than patients without GI disease.
A broad spectrum of GI pathology is associated with MAS. IPMNs are common and occur at a younger age than in the general population. Patients with MAS should be considered for screening with a focused GI history and baseline MRCP. Further determination of the natural history and malignant potential of IPMNs in MAS is needed.
McCune-Albright 综合征（MAS）是一种罕见疾病，其特征为骨纤维结构不良、咖啡牛奶斑和内分泌功能亢进。它源于 GNAS 的体细胞获得性功能突变，该基因编码 cAMP 调节蛋白 Gαs。体细胞 GNAS 突变已在导管内乳头状黏液性肿瘤（IPMN）和各种胃肠道（GI）肿瘤中报道。MAS 相关 GI 疾病的临床谱和流行率尚未得到很好的确定。
在 MAS 大样本患者中定义 MAS 相关 GI 病理学的谱和流行率。
横断面研究。
美国国立卫生研究院临床中心和约翰霍普金斯医院。
对 54 例连续 MAS 患者（28 名男性；年龄 7 至 67 岁）进行磁共振胰胆管造影（MRCP）筛查。
54 例患者中有 30 例（56%）存在放射性 GI 异常。25 例（46%）筛查对象存在 IPMN（平均年龄 35.1 岁）。14 例为单纯 IPMN，11 例为 IPMN 合并异常肝胆影像学表现。与无 GI 疾病的患者相比，30 例 MAS 相关 GI 病理学患者的急性胰腺炎、糖尿病和骨纤维结构不良的骨骼疾病负担发生率更高。
MAS 与广泛的 GI 病理学相关。IPMN 常见，且发生年龄早于普通人群。MAS 患者应考虑进行有针对性的 GI 病史和基线 MRCP 筛查。需要进一步确定 MAS 中 IPMN 的自然史和恶性潜能。
