Bobkova Svetlana, Oldham Eli P, Loykasek Patti, Henderson Clifford L, Shendrik Igor
School of Biomedical Sciences, Oklahoma State University Center for Health Sciences, Tulsa, USA.
Osteopathic Medicine, Oklahoma State University Center for Health Sciences, Tulsa, USA.
Cureus. 2024 Sep 2;16(9):e68446. doi: 10.7759/cureus.68446. eCollection 2024 Sep.
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 or ). 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 low-grade 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 mutation (p.Q209H) in both samples. Notably, a 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.
具有机化/吻合特征的血栓性血管瘤（THOA）是血管瘤谱系中一种新发现的变体，其鸟嘌呤核苷酸结合蛋白α亚基（GNA）基因（如 或 ）存在突变。虽然THOA与吻合性血管瘤有相似之处，但它具有独特的临床和形态学特征，使其成为一个独立的实体。所有报道的THOA病例均表现为良性行为。然而，诸如吻合性血管生长、有丝分裂象和内皮细胞鞋钉样改变等组织学特征可能会引发对低级别恶性血管肿瘤的担忧。我们报告了一例74岁女性病例，其病史无异常，上半身出现血管病变。初次活检后病变持续存在，再次切除后显示出相似的组织学特征。二代测序（NGS）显示两个样本均存在 突变（p.Q209H）。值得注意的是，在第一个标本中检测到 突变（p.R273H），但在随后的切除标本中未检测到。该病变被诊断为持续性THOA。本病例报告讨论了这种罕见病变的显著特征、基因概况和预后。
