Lee Whayoung, HaDuong Josephine, Sassoon Aaron, Dao Tuan, Nael Ali
Department of Pathology, University of California Irvine Medical Center, 101 The City Drive South, Bldg. 1, Room 3003 Orange, CA 92868, USA.
Pediatric Oncology Department, Children's Hospital of Orange County (CHOC), 1201 West La Veta Ave. Orange, CA 92868, USA.
Case Rep Pathol. 2021 Oct 5;2021:3924565. doi: 10.1155/2021/3924565. eCollection 2021.
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with widespread distribution throughout the body and unpredictable clinical behavior. Recently, a subset of these tumors has been reported to harbor Transcription Factor E3 (TFE3) gene rearrangement with distinct morphologic and immunophenotypic features. Although limited, these tumors may represent a separate entity from the conventional PEComas and may require different treatment approaches. Surgery is the main treatment option with no clear consensus on systemic therapy. Here, we present the first case of a malignant pediatric colonic TFE3-associated PEComa with isolated liver metastasis leading to liver transplantation for the local control.
血管周上皮样细胞肿瘤（PEComas）是一种罕见的间叶性肿瘤，广泛分布于全身，临床行为不可预测。最近，据报道这类肿瘤的一个亚群存在转录因子E3（TFE3）基因重排，具有独特的形态学和免疫表型特征。尽管数量有限，但这些肿瘤可能代表了一种与传统PEComas不同的实体，可能需要不同的治疗方法。手术是主要的治疗选择，对于全身治疗尚无明确共识。在此，我们报告首例伴有孤立性肝转移的儿童恶性结肠TFE3相关性PEComa病例，该病例通过肝移植实现了局部控制。
