Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum,Clinical Genetics

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Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-08-17 , DOI: 10.1111/cge.14047
Diana Carli _{1,

2} , Silvia Kalantari ₃ , Rosaria Manicone ₂ , Paola Coppo ₄ , Paola Francia di Celle ₅ , Roberta La Selva ₄ , Federica Santoro ₆ , Carlotta Ranieri ₇ , Simona Cardaropoli ₁ , Franca Fagioli ₂ , Giovanni Battista Ferrero _{1,

8} , Nicoletta Resta ₇ , Alessandro Mussa ₁

Affiliation

Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive mixed vascular tumor, with typical onset in early childhood and characterized by progressive angio- and lymphangiogenesis. Its etiopathogenesis and molecular bases are still unclear. Here, we report the first case of congenital KHE harboring a PIK3CA mosaic pathogenic variant (c.323G > A, p.Arg108His) in a boy with very subtle PIK3CA-related overgrowth spectrum (PROS) features. This finding provides insights into the pathophysiology of KHE, offering targeted therapeutic options by inhibition of the PI3K/Akt/mTOR pathway. We propose the inclusion of this mixed lymphatic and vascular anomaly within the PROS.

中文翻译：

卡波西样血管内皮瘤进一步拓宽了 PIK3CA 相关过度生长谱的表型

卡波西样血管内皮瘤（KHE）是一种罕见的局部侵袭性混合血管肿瘤，典型发病于儿童早期，以进行性血管和淋巴管生成为特征。其发病机制和分子基础仍不清楚。在这里，我们报告了第一个具有PIK3CA嵌合致病性变异 (c.323G > A, p.Arg108His) 的先天性 KHE 病例，该男孩具有非常微妙的PIK3CA相关过度生长谱 (PROS) 特征。这一发现提供了对 KHE 病理生理学的见解，通过抑制 PI3K/Akt/mTOR 通路提供靶向治疗选择。我们建议将这种混合的淋巴和血管异常纳入 PROS。

更新日期：2021-10-07

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