Abstract：
PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations.
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.
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.
摘要：
背景：PTEN相关错构瘤综合征是由位于10q23.31的PTEN基因突变引起的。这种综合征代表了一系列不同的表型变量表达，现在被认为是相同条件的一部分。具有这种突变的患者出现广泛发现的风险增加，包括恶性肿瘤.虽然在成年人中被广泛描述，没有大型系列描述患者成年前的影像学发现。了解儿童和青少年PTEN相关错构瘤综合征的发现有助于指导进一步的治疗和改进监测建议。
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。
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。
