Novel PAX3::MAML3 fusion identified in alveolar rhabdomyosarcoma, using DNA methylation profiling to expand the genetic spectrum of “fusion-positive” cases

Novel PAX3::MAML3 fusion identified in alveolar rhabdomyosarcoma, using DNA methylation profiling to expand the genetic spectrum of “fusion-positive” cases

Alveolar rhabdomyosarcoma (ARMS) with FOXO1 gene rearrangements is an aggressive pediatric rhabdomyosarcoma subtype that is prognostically distinct from embryonal rhabdomyosarcoma and fusion-negative ARMS. Here, we report 2 cases of ARMS with PAX3::MAML3 fusions. The tumors arose in an infant and an...

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Main Authors: Josephine K. Dermawan, Faizan Malik, John Gross, Ezra Baraban, Christine A. Pratilas, Wadad Mneimneh, Matteo Trucco, Wenyue Sun, Frederic G. Barr, Felipe D’Almeida Costa, Karen Fritchie
Format: Artigo
Language:English
Published: 2024
Online Access:https://doi.org/10.1016/j.modpat.2024.100594
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https://doi.org/10.1016/j.modpat.2024.100594

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