Liu Yu, El Jabbour Tony, Somma Jonathan, Nakanishi Yukihiro, Ligato Saverio, Lee Hwajeong, Fu Zhi-Yan
Department of Pathology, LSU Health Sciences Center School of Medicine, New Orleans, LA 70112, United States.
Department of Pathology, Hartford HealthCare, Hartford, CT 06102, United States.
World J Gastrointest Surg. 2024 Apr 27;16(4):1030-1042. doi: 10.4240/wjgs.v16.i4.1030.
Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor blast cells. This review focuses on digestive system blastomas in adult patients, including gastroblastoma, hepatoblastoma, and pancreatoblastoma. Gastroblastoma is a biphasic, epitheliomesenchymal tumor, with only sixteen cases reported to date. In addition to the characteristic histology, metastasis-associated lung adenocarcinoma transcript 1 - glioma-associated oncogene homolog 1 gene fusion is typical, although recently novel ewing sarcoma breakpoint region 1 - c-terminal binding protein 1 and patched 1 - glioma-associated oncogene homolog 2 fusions have been described. Hepatoblastoma is exceptionally rare in adults and can show a variety of histologic patterns which may cause diagnostic difficulty. Pancreatoblastoma, primarily a pediatric tumor, displays acinar differentiation and squamoid nests with other lines of differentiation also present, especially neuroendocrine. Diagnostic approaches for these blastomas include a combination of imaging modalities, histopathological examination, and molecular profiling. The treatment generally involves surgical resection, which may be supplemented by chemotherapy or radiotherapy in some cases. Prognoses vary with gastroblastoma generally showing favorable outcomes post-surgery whereas hepatoblastoma and pancreatoblastoma often have poorer outcomes, particularly in the setting of metastases. This review highlights the complexity of diagnosing and managing these rare adult blastomas as well as the need for ongoing research to better understand their pathogenesis and improve treatment strategies.
母细胞瘤以间充质、上皮和未分化的胚基成分混合为特征,是起源于原始母细胞的罕见恶性肿瘤。本综述聚焦于成年患者的消化系统母细胞瘤,包括胃母细胞瘤、肝母细胞瘤和胰腺母细胞瘤。胃母细胞瘤是一种双相性上皮间质肿瘤,迄今为止仅报告了16例。除了特征性组织学外,转移相关肺腺癌转录本1-胶质瘤相关致癌基因同源物1基因融合是典型的,尽管最近也描述了新的尤文肉瘤断点区域1-羧基末端结合蛋白1和patched1-胶质瘤相关致癌基因同源物2融合。肝母细胞瘤在成年人中极为罕见,可表现出多种组织学模式,这可能导致诊断困难。胰腺母细胞瘤主要是一种儿科肿瘤,表现为腺泡分化和鳞状细胞巢,也存在其他分化谱系,尤其是神经内分泌分化。这些母细胞瘤的诊断方法包括影像学检查、组织病理学检查和分子分析相结合。治疗通常包括手术切除,在某些情况下可能辅以化疗或放疗。预后各不相同,胃母细胞瘤术后通常显示良好的结果,而肝母细胞瘤和胰腺母细胞瘤的结果往往较差,尤其是在发生转移的情况下。本综述强调了诊断和管理这些罕见的成年母细胞瘤的复杂性,以及持续开展研究以更好地了解其发病机制和改进治疗策略的必要性。