Thrombotic Hemangioma With Organizing/Anastomosing Features: Expanding the Spectrum of GNA-mutated Hemangiomas With a Predilection for the Skin of the Lower Abdominal Regions. (February 2020)

• Record Type: Journal Article
• Authors: Liau, Jau-Yu; Lee, Jen-Chieh; Tsai, Jia-Huei; Chen, Chih-Chi; Wang, Ying-Hao; Chung, Yung-Chuan
• Is Part Of: American journal of surgical pathology. Volume 44:Number 2(2020)
• Publication Date: 2020-02
• Subjects: GNAQ -- GNA11 -- GNA14 -- anastomosing hemangioma -- thrombosis; Pathology, Surgical -- Periodicals; 617.0705
• DOI: 10.1097/PAS.0000000000001392
• Languages: English
• ISSNs: 0147-5185

Abstract

Abstract : 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.