Bueno Marta Tijerin, Martínez-Ríos Claudia, la Puente Gregorio Alejandro De, Ahyad Rayan A, Villani Anita, Druker Harriet, van Engelen Kalene, Gallinger Bailey, Aronoff Laura, Grant Ronald, Malkin David, Greer Mary-Louise C
Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario, M5G 1X8, Canada.
Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.
Pediatr Radiol. 2017 Sep;47(10):1292-1301. doi: 10.1007/s00247-017-3875-0. Epub 2017 May 4.
DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms.
To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital.
This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing.
Sixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the "cracked windshield" sign.
The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation.
DICER1综合征由定位于14q32染色体的DICER1基因突变引起，与一系列良性和恶性肿瘤的风险增加相关。
确定一家三级儿科医院中DICER1综合征患者的异常谱和影像学特征。
这项回顾性分析评估了2004年1月至2016年7月期间年龄≤18岁的携带DICER1种系变异患者的影像学检查。通过在影像学数据库中搜索关键词“胸膜肺母细胞瘤”“囊性肾瘤”“松果体母细胞瘤”“胚胎性横纹肌肉瘤”“卵巢性索间质肿瘤”“卵巢支持-间质细胞瘤”和“DICER1综合征”，并与机构癌症遗传学项目数据库进行交叉对照，排除DICER1基因检测结果为阴性/未知的患者。
纳入16例患者（12例女性；就诊时平均年龄：4.2岁，范围：14天至17岁），监测影像学检查包括以下方式：胸部X线和CT；腹部、盆腔和颈部超声；脑部和全身MRI。恶性病变（占患者的68.8%）包括胸膜肺母细胞瘤（5例）、松果体母细胞瘤（3例）、卵巢支持-间质细胞瘤（1例）、胚胎性横纹肌肉瘤（1例）和肾肉瘤（1例）；良性病变（占患者的37.5%）包括甲状腺囊肿（2例）、甲状腺结节（2例）、囊性肾瘤（2例）、肾囊肿（1例）和松果体囊肿（1例）。在各种检查方式和器官中观察到的一种常见病变表现被定义为“破碎挡风玻璃”征。
DICER1相关肿瘤谱和就诊时的年轻年龄表明，对高危患者进行早期监测至关重要，同时要尽量减少电离辐射暴露。
