伴有GLI1基因重排（PANX3::GLI1转录本）和MDM2基因扩增的恶性上皮样肿瘤
Malignant epithelioid neoplasm with GLI1 gene rearrangement (PANX3::GLI1 transcript) and MDM2 gene amplification.
作者信息
Konovalov Dmitry, Sharlai Anastasia, Panferova Agnesa, Korobova Daria, Rogozhin Dmitrii, Druy Alexander
机构信息
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation.
出版信息
Virchows Arch. 2025 May;486(5):1061-1067. doi: 10.1007/s00428-024-03949-8. Epub 2024 Oct 23.
We hereby report the case of an epithelioid neoplasm arising from pterygopalatine fossa in a 13-year-old child harboring PANX3::GLI1 fusion and MDM2 amplification. Identified chimeric gene can explain observed signs of osteogenic differentiation. We discuss the challenges in differential diagnosis from osteogenic tumors and soft tissue neoplasms with epithelioid morphology. Our case is the first report of a tumor with such genetic abnormalities and it is about to replenish the spectrum of rare GLI1-rearranged tumors.
我们在此报告一例13岁儿童翼腭窝来源的上皮样肿瘤病例，该患儿存在PANX3::GLI1融合及MDM2扩增。所鉴定出的嵌合基因可解释观察到的成骨分化迹象。我们讨论了与成骨性肿瘤及具有上皮样形态的软组织肿瘤进行鉴别诊断时所面临的挑战。我们的病例是首例具有此类基因异常的肿瘤报告，它将补充罕见的GLI1重排肿瘤谱。
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