Persistent Thrombotic Hemangioma With Organizing/Anastomosing Features: A Case Report of a Guanine Nucleotide-Binding Protein Alpha Subunit (GNA)-Mutated Cutaneous Vascular Lesion

被引:0
作者
Bobkova, Svetlana [1 ]
Oldham, Eli P. [2 ]
Loykasek, Patti [3 ]
Henderson, Clifford L. [4 ]
Shendrik, Igor [5 ]
机构
[1] Oklahoma State Univ, Ctr Hlth Sci, Sch Biomed Sci, Tulsa, OK 74107 USA
[2] Oklahoma State Univ, Osteopath Med, Ctr Hlth Sci, Tulsa, OK USA
[3] Pathol Lab Associates, Mol Immunohistochem & Flow Cytometry, Tulsa, OK USA
[4] St Dermatol Ctr Excellence, Skin Canc Surg, Oklahoma City, OK USA
[5] Reg Med Lab & Pathol Lab Associates, Dermatopathol Sect, Tulsa, OK USA
关键词
hemangioendothelioma; angiosarcoma; anastomosing hemangioma; next generation sequencing (ngs); thrombotic hemangioma;
D O I
10.7759/cureus.68446
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Thrombotic hemangioma with organizing/anastomosing features (THOA) is a newly identified variant within the spectrum of hemangiomas that harbor mutations in the guanine nucleotide-binding protein alpha subunit (GNA) genes (like GNAQ or GNA11). ). While THOA shares similarities with anastomosing hemangioma, it possesses distinct clinical and morphological characteristics that make it a separate entity. All reported cases of THOA have demonstrated benign behavior. However, histologic features such as anastomosing vascular growth, mitotic figures, and endothelial hobnailing may raise concerns for a lowgrade malignant vascular neoplasm. We report the case of a 74-year-old female with an unremarkable medical history who presented with a vascular lesion on her upper torso. The lesion persisted after the initial biopsy and was re-excised, displaying similar histologic characteristics. Next-generation sequencing (NGS) revealed a GNAQ mutation (p.Q209H) in both samples. Notably, a TP53 mutation (p.R273H) was detected in the first specimen but was absent in the subsequent excision. The lesion was diagnosed as persistent THOA. This case report discusses the salient features, genetic profile, and prognosis of this uncommon lesion.
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