Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13.
Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.
特纳综合征（45，X）是由单个 X 染色体完全或部分缺失引起的。血管畸形是由于血液和/或淋巴管的异常发育引起的。它们是由于调节血管通道生长和凋亡的基因中的体细胞或种系致病性变异引起的。主动脉异常是特纳综合征的一种常见的已知血管异常。然而，以前的研究描述了其他血管畸形作为特纳综合征的罕见特征，并表明特纳综合征患者的血管异常可能更为普遍。在这项研究中，我们描述了两名特纳综合征合并血管畸形伴淋巴成分的患者。在这些患者中，对病变组织进行的基因检测显示 PIK3CA 中的体细胞致病性变异 - 一种已知的常见淋巴管畸形的原因。基于这一发现，我们得出结论，这里呈现的血管畸形，以及可能以前文献中的那些，并不是特纳综合征临床谱的罕见部分，而是一种单独的临床实体，可能在特纳综合征患者中存在或不存在。
