一例伴有TFG-ROS1融合的婴儿炎性肌纤维母细胞瘤：病例报告
An infant inflammatory myofibroblastoma with TFG-ROS1 fusion: a case report.
作者信息
Jiang Hui, Jiang Junnan, Feng Baidong, Yang Yaxian, Li Qi, Lian Bin, Ding Xiao, Pan Zhaodong, Huang Mingjian, Pan Zhaowen, Huang Jian
机构信息
Department of Pathology, The Central Hospital of Yongzhou, Yongzhou, 425000, Hunan Province, China.
Department of Neonatal, Maoming Maternal and Child Health Hospital, Maoming, 525000, Guangdong Province, China.
出版信息
J Med Case Rep. 2025 Apr 9;19(1):167. doi: 10.1186/s13256-025-05203-4.
BACKGROUND
Inflammatory myofibroblastic tumors are extremely rare in the neck of infants, and pathological diagnosis may be challenging. Kinase fusions play an important role in the biology of many inflammatory myofibroblastic tumors, becoming an effective diagnostic method.
CASE PRESENTATION
In this report, we present the case of an East Asian (Han Chinese) patient with rare infant inflammatory myofibroblastoma. DNA-based but not RNA-based next-generation sequencing was used to identify its targetable ROS1 fusions.
CONCLUSION
This case highlights the importance of simultaneously detecting DNA and RNA using next-generation sequencing in clinical practice.
背景
炎性肌纤维母细胞瘤在婴儿颈部极为罕见，病理诊断可能具有挑战性。激酶融合在许多炎性肌纤维母细胞瘤的生物学过程中起重要作用，成为一种有效的诊断方法。
病例介绍
在本报告中，我们介绍了一例东亚（汉族）罕见婴儿炎性肌纤维母细胞瘤患者的病例。使用基于DNA而非基于RNA的下一代测序来鉴定其可靶向的ROS1融合。
结论
该病例突出了在临床实践中使用下一代测序同时检测DNA和RNA的重要性。
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