To describe the spectrum of imaging abnormalities in pediatric patients with PTEN-related hamartoma tumor syndrome.
We performed a retrospective, cross-sectional, multicenter study conducted between January 2000 and October 2021 in three tertiary pediatric institutions evaluating the imaging findings in children and adolescents (≤ 18 years) with confirmed diagnoses of a PTEN mutation. For each patient, the imaging findings, histopathology reports, and at least a 2-year follow-up of clinical outcomes for non-operative cases were documented.
The cohort included 78 children (37 girls), with a mean age at diagnosis of 7.5 years (range 0 days to 18 years). Benign brain findings included enlarged Virchow-Robin perivascular spaces, white matter changes, developmental venous anomalies, and cerebellar hamartomas. Benign thyroid findings were common, but 5/45 (11.1%) with thyroid abnormalities had a malignant nodule. Soft tissue adipocytic tumors, GI/GU polyps, other soft tissue abnormalities, along with vascular anomalies in various anatomic locations were common.
Brain abnormalities, benign non-vascular soft tissue abnormalities, and vascular anomalies are commonly seen in children and adolescents with PTEN-related hamartoma tumor syndrome. However, malignancies involving the thyroid gland are not uncommon. Familiarity with the phenotype of PTEN-related hamartoma tumor syndrome in the pediatric population can improve diagnosis and prompt appropriate clinical surveillance of abnormal findings that warrant further management.
目的:描述PTEN相关错构瘤综合征患儿的影像学异常。
方法:我们进行了回顾性研究,横截面,2000年1月至2021年10月在3个三级儿科机构进行的多中心研究,评估确诊为PTEN突变的儿童和青少年(≤18岁)的影像学表现.对于每个病人来说,影像学发现,组织病理学报告,对非手术病例的临床结局进行了至少2年的随访.
结果:该队列包括78名儿童(37名女孩),诊断时的平均年龄为7.5岁(范围为0天至18岁)。良性大脑发现包括扩大的Virchow-Robin血管周围空间,白质变化,发育性静脉异常,和小脑错构瘤.良性甲状腺表现很常见,但5/45(11.1%)甲状腺异常有恶性结节。软组织脂肪细胞肿瘤,GI/GU息肉,其他软组织异常,各种解剖位置的血管异常也很常见。
结论:大脑异常,良性非血管软组织异常,血管异常常见于患有PTEN相关错构瘤肿瘤综合征的儿童和青少年。然而,涉及甲状腺的恶性肿瘤并不少见。在儿科人群中熟悉PTEN相关错构瘤肿瘤综合征的表型可以改善诊断,并提示对异常发现进行适当的临床监测,需要进一步治疗。