Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
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PIK3CA 的致病性变异与卡波西样淋巴管瘤病、全身淋巴管异常和中央传导淋巴管异常的临床表型相关。
DOI：
10.1002/pbc.30419
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发表时间：
2023
影响因子：
3.2
通讯作者：
Srinivasan,AbhayS
中科院分区：
文献类型：
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作者：
Grenier,JeremyM;Borst,AlexandraJ;Sheppard,SarahE;Snyder,KristenM;Li,Dong;Surrey,LeaF;Al-Ibraheemi,Alyaa;Weber,DavidR;Treat,JamesR;Smith,ChristopherL;Laje,Pablo;Dori,Yoav;Adams,DeniseM;Acord,Michael;Srinivasan,AbhayS
复杂淋巴异常是以淋巴管系统（淋巴管生成）的异常发育为特征的衰弱性病症。诊断通常通过病史、检查、放射学和组织学发现来进行。然而，有显着的重叠条件，使准确的诊断困难。最近，遗传分析已被提供作为一种额外的诊断方式。在这里，我们描述了4例复杂的淋巴管异常，所有与PIK3CA变异，但不同的临床表型。PIK3CA的鉴定导致向靶向抑制剂alpelisib的转变。这些病例突出了表型多样的淋巴异常之间的遗传重叠。
Complex lymphatic anomalies are debilitating conditions characterized by aberrant development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made by history, examination, radiology, and histologic findings. However, there is significant overlap between conditions, making accurate diagnosis difficult. Recently, genetic analysis has been offered as an additional diagnostic modality. Here, we describe four cases of complex lymphatic anomalies, all withPIK3CAvariants but with varying clinical phenotypes. Identification ofPIK3CAresulted in transition to a targeted inhibitor, alpelisib. These cases highlight the genetic overlap between phenotypically diverse lymphatic anomalies.