Department of Pathology, Henan Provincial People's Hospital, the People's Hospital of Zhengzhou University, Zhengzhou, China.
Department of Image, Henan Provincial People's Hospital, the People's Hospital of Zhengzhou University, Zhengzhou, China.
Hum Pathol. 2024 Nov;153:105672. doi: 10.1016/j.humpath.2024.105672. Epub 2024 Oct 24.
Intramuscular hemangioma capillary type (IHCT) is a rare entity that refers to fast-flow vascular lesions. This study aims to elucidate the relationships between clinicopathological, radiological, and molecular characteristics in IHCT patients.
We reviewed all IHCT cases which were treated surgically in our pathology database from 2014 to 2023. Ten cases were analyzed via next-generation sequencing (NGS) and Sanger sequencing. The cohort consisted of 10 patients (6 males, 4 females) with a median age of 18 years (range: 1-37). Disease lesions were located in the trunk (n = 4), upper extremity (n = 2), lower extremity (n = 2), shoulder (n = 1), and neck (n = 1). IHCT is most commonly a progressively increasing painless mass. Histopathologically, all lesions exhibited aggregates, lobules, and anastomosing cords of capillary-type vessels separating or infiltrating the skeletal muscles. Four cases exhibited irregularly dilated vessels with thick walls, such as arteriovenous malformations (AVM) in the lesion's periphery. MRI findings commonly demonstrated a well-delineated, homogeneous mass. Somatic mutations were detected in seven of the ten IHCT cases. Four cases harbored mutations in MAP2K1 (p.Q58_E62del, p.K57_G61del, p.K57 N), two cases harbored mutations in KRAS (p.Q61R and p.L56V, p.G13R), and one case harbored a mutation in HRAS (p.D69_Q70insRWYSAMRD). Mutant allele frequencies detected by sequencing ranged from 9.98% to 15.97%.
The hemodynamic and molecular genetic phenotypes of IHCT closely resemble those observed in AVMs. Newly identified KRAS missense mutations, including cases with coexisting mutation types, and HRAS insertion mutations offer valuable insights into the genetic basis of vascular anomalies. These findings may also present potential targets for the development of novel pharmacotherapeutic interventions.
肌内毛细血管瘤毛细血管型（IHCT）是一种罕见的实体，指的是快速流动的血管病变。本研究旨在阐明 IHCT 患者的临床病理、影像学和分子特征之间的关系。
我们回顾了 2014 年至 2023 年在我们的病理数据库中接受手术治疗的所有 IHCT 病例。对 10 例病例进行了下一代测序（NGS）和 Sanger 测序分析。该队列由 10 名患者（6 名男性，4 名女性）组成，中位年龄为 18 岁（范围：1-37 岁）。病变位于躯干（n=4）、上肢（n=2）、下肢（n=2）、肩部（n=1）和颈部（n=1）。IHCT 最常见的是逐渐增大的无痛性肿块。组织病理学上，所有病变均显示出毛细血管型血管的聚集、小叶和吻合索，分离或浸润骨骼肌。4 例病变周边有不规则扩张的厚壁血管，如动静脉畸形（AVM）。MRI 表现通常显示边界清楚、均匀的肿块。在 10 例 IHCT 病例中有 7 例检测到体细胞突变。4 例 MAP2K1 基因突变（p.Q58_E62del，p.K57_G61del，p.K57N），2 例 KRAS 基因突变（p.Q61R 和 p.L56V，p.G13R），1 例 HRAS 基因突变（p.D69_Q70insRWYSAMRD）。测序检测到的突变等位基因频率为 9.98%至 15.97%。
IHCT 的血流动力学和分子遗传表型与 AVM 非常相似。新发现的 KRAS 错义突变，包括共存突变类型和 HRAS 插入突变，为血管异常的遗传基础提供了有价值的见解。这些发现也可能为新型药物治疗干预的开发提供潜在靶点。
