Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine.
Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan.
Am J Surg Pathol. 2020 Feb;44(2):255-262. doi: 10.1097/PAS.0000000000001392.
In this study, we aimed to present the clinicopathologic and molecular features of a distinct group of hemangioma with GNA mutations that exhibited prominent thrombosis and organization changes with florid intravascular endothelial cell proliferation that we provisionally termed "thrombotic hemangioma with organizing/anastomosing features." Twenty-six cases were included. No sex predilection was seen (male:female=13:13). Patients' age ranged from 17 to 89 years (median: 51 y). All but 1 occurred in the skin whereas the remaining tumor involved the neck soft tissue. Remarkably, the majority (18) occurred in the lower abdominal/inguinal regions. Histologically, thrombotic hemangioma with organizing/anastomosing features were circumscribed tumors composed of variably sized and congested thin-walled vessels. The most striking features were prominent thrombosis and organization with florid intravascular endothelial cell proliferation. The proliferating endothelial cells exhibit a streaming pattern with focal anastomosing-like feature resembling anastomosing hemangioma. The stroma was sclerotic or hyalinized but could also be myxoid/edematous. Other features included vessels with nuclear hobnailing and perivascular hyalinization, cherry hemangioma-like component, cavernous-like or sinusoidal hemangioma-like areas, Masson hemangioma-like feature, and spindle cell fascicular pattern. Mitotic activity was usually low and nuclei were bland but 2 tumors exhibited moderate nuclear atypia and higher mitotic activity. Extramedullary hematopoiesis and hyaline globules were not identified. Genetically, by Sanger sequencing and MassARRAY analysis, mutually exclusive GNAQ, GNA11, and GNA14 exon 5 mutations were identified in 15, 5, and 2 tumors, respectively, with a combined mutation rate of 85% (22/26). In conclusion, we described a distinct group of hemangioma and expanded the clinicopathologic features of GNA-mutated hemangiomas.
在这项研究中，我们旨在介绍一组具有 GNA 突变的独特血管瘤的临床病理和分子特征，这些血管瘤表现出明显的血栓形成和组织变化，伴有丰富的血管内皮细胞增生，我们暂时将其命名为“具有血栓形成和吻合特征的血栓性血管瘤”。纳入了 26 例病例。未观察到性别偏好（男性：女性=13:13）。患者年龄为 17 至 89 岁（中位数：51 岁）。除 1 例外，所有病例均发生于皮肤，其余肿瘤累及颈部软组织。值得注意的是，大多数（18 例）发生于下腹部/腹股沟区域。组织学上，具有血栓形成和吻合特征的血栓性血管瘤为界限清楚的肿瘤，由大小不一且充血的薄壁血管组成。最显著的特征是明显的血栓形成和组织变化，伴有丰富的血管内皮细胞增生。增生的内皮细胞呈流状模式，具有局灶性吻合样特征，类似于吻合性血管瘤。基质为硬化或玻璃样，但也可为黏液样/水肿样。其他特征包括具有核钉突和血管周围玻璃样变的血管、樱桃状血管瘤样成分、海绵状或窦状血管瘤样区域、Masson 血管瘤样特征和梭形细胞束状模式。有丝分裂活性通常较低，核为良性，但 2 例肿瘤显示中度核异型性和较高的有丝分裂活性。未识别出髓外造血和透明小体。通过 Sanger 测序和 MassARRAY 分析，分别在 15、5 和 2 例肿瘤中鉴定出相互排斥的 GNAQ、GNA11 和 GNA14 外显子 5 突变，突变率为 85%（22/26）。总之，我们描述了一组独特的血管瘤，并扩展了 GNA 突变性血管瘤的临床病理特征。
