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Identification of RCC1-LCK as a novel fusion gene in pediatric erythroid sarcoma.

Satoru OyaShinya OsoneMasanori YoshidaSota NishimotoYoshihiro TauraHideki YoshidaMitsuru MiyachiTohru InabaEiichi KonishiMotohiro KatoToshihiko ImamuraTomoko Iehara
Published in: Pediatric blood & cancer (2022)
Erythroid sarcoma is a very rare subtype of myeloid sarcoma with undetermined biological features. Here, we present an infant with a multifocal erythroid sarcoma, diagnosed because the tumor cells were positive for glycophorin A. After acute myeloid leukemia-oriented chemotherapy and surgical resection followed by cord blood transplantation, he has successfully maintained complete remission without any late effects. Total transcriptome analysis of the tumor identified a novel fusion gene, RCC1-LCK, and high LCK expression levels, suggesting that LCK overexpression was involved in leukemogenesis in this case.
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