CIC再構成サルコーマにおける異常な形態および分子学的特徴:小児患者の症例シリーズ
Lianyuan Yu1, Yin Cheng1, Lejian He1
1Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Abstract:
CIC-rearranged sarcomas represent a rare and aggressive category of undifferentiated small round cell sarcomas with distinct clinicopathological and molecular features. This study presents a case series of four pediatric CIC-rearranged sarcomas, including an index case with unusual chondroid and osseous metaplasia and three additional cases demonstrating the clinicopathological spectrum of these tumors. We present four pediatric CIC-rearranged sarcomas, all with CIC::DUX4 fusions confirmed by next-generation sequencing. This series expands the morphological and molecular spectrum of these tumors, underscoring their heterogeneity and the necessity of molecular profiling for diagnosis.
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