Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
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乳头状血管瘤存在体细胞 GNA11 和 GNAQ 突变。
DOI：
10.1097/pas.0000000000002127
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发表时间：
2024
期刊：
影响因子：
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通讯作者：
Al-Ibraheemi,Alyaa
中科院分区：
文献类型：
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作者：
Gestrich,CatherineK;Vivero,MathewP;Konczyk,DennisJ;Goss,JeremyA;Labow,BrianI;Pearson,GregoryD;Cottrell,CatherineE;Mathew,MariamT;Prasad,Vinay;Kozakewich,HarryP;Fletcher,ChristopherDM;Greene,ArinK;Al-Ibraheemi,Alyaa
乳头状血管瘤（PH）是一种小的，主要是皮肤病变，主要发生在头部和颈部的儿童和成人。其标志性特征是扩张的薄壁通道，包含主要为毛细血管大小的乳头状血管簇和内皮细胞胞质嗜酸性包涵体。鉴于某些组织病理学的相似性，先天性血管瘤，窝藏在GNAQ和GNA11的突变，我们调查是否存在类似的突变PH。7 PH标本进行了研究。所有这些都出现在生命的前4年，其中一个在出生时就被注意到了。除1处病变外，所有病变均位于头颈部。病变呈蓝色，大小范围为0.5至2.8 cm。4个样品具有GNA11 p.Q209L，3个具有GNAQ p.Q209L错义突变。GNA11和GNAQ的突变与其他类型的体血管病变相关，包括毛细血管畸形、先天性血管瘤、闭塞性血管瘤、血栓闭塞性血管瘤和肝小细胞肿瘤。GNA11和GNAQ中的共享突变可能解释了这些实体中的一些重叠的临床和病理特征，也许可以通过突变的时间或生殖系表型的影响来解释。
Papillary hemangioma (PH) is a small, primarily dermal lesion occurring predominantly in the head and neck in both children and adults. Its signature characteristics are dilated thin-walled channels containing papillary clusters of mainly capillary-sized vessels and endothelial cytoplasmic eosinophilic inclusions. Given certain histopathologic similarities to congenital hemangioma which harbor mutations in GNAQ and GNA11, we investigated whether similar mutations are present in PH. Seven PH specimens were studied. All presented in the first 4 years of life, with one being noted at birth. With the exception of one lesion, all were in the head and neck. Lesions were bluish and ranged in size from 0.5 to 2.8 cm. Four samples had GNA11 p. Q209L and 3 had GNAQ p. Q209L missense mutations. Mutations in GNA11 and GNAQ are associated with other types of somatic vascular lesions including capillary malformation, congenital hemangioma, anastomosing hemangioma, thrombotic anastomosing hemangioma, and hepatic small cell neoplasm. Shared mutations in GNA11 and GNAQ may account for some overlapping clinical and pathologic features in these entities, perhaps explicable by the timing of the mutation or influence of the germline phenotype.