@article{faf36e732f9c43e78251d7a8c9336cca,
title = "Malignant Progression of an Ancestral Bone Marrow Clone Harboring a CIC-NUTM2A Fusion in Isolated Myeloid Sarcoma",
abstract = "Myeloid sarcoma is a rare condition consisting of extramedullary myeloid blasts found in association with acute myeloid leukemia or, in the absence of bone marrow involvement. We identified an infant with isolated myeloid sarcoma whose bone marrow was negative for involvement by flow cytometry. Sequencing revealed the fusion oncogene CIC-NUTM2A and identified the sarcoma to be clonally evolved from the bone marrow, which carried the fusion despite the absence of pathology. Murine modeling confirmed the ability of the fusion to transform hematopoietic cells and identified receptor tyrosine kinase (RTK) signaling activation consistent with disruption of the CIC transcriptional repressor. These findings extend the definition of CIC-rearranged malignancies to include hematologic disease, provide insight into the mechanism of oncogenesis, and demonstrate the importance of molecular analysis and tracking of bone marrow involvement over the course of treatment in myeloid sarcoma, including patients that lack flow cytometric evidence of leukemia at diagnosis.",
author = "Kamens, {Jennifer L.} and Jinjun Dang and Shaw, {Timothy I.} and Gout, {Alexander M.} and Scott Newman and Kohei Hagiwara and Smith, {Amelia M.R.} and Obermayer, {Alyssa N.} and Sarah Aldridge and Jing Ma and Yang Zhang and Gang Wu and Vasiliki Leventaki and Teresa Santiago and Susana Raimondi and Joy Nakitandwe and Alberto Pappo and Chunliang Li and Jinghui Zhang and Gruber, {Tanja A.}",
note = "Funding Information: The authors would like to thank the staff of Flow Cytometry Core, Animal Resource Center, as well as the Hartwell Center for Biotechnology and Bioinformatics of St. Jude Children{\textquoteright}s Research Hospital. This work was supported by the American Lebanese Syrian Associated Charities of St. Jude Children{\textquoteright}s Research Hospital. Funding Information: T.I. Shaw reports a patent for St. Jude ref.: SJ-19-0029 issued to St. Jude{\textquoteright}s Children{\textquoteright}s Research Hospital. T.A. Gruber reports personal fees from Kura Oncology; and grants from Pfizer outside the submitted work. No disclosures were reported by the other authors. Publisher Copyright: {\textcopyright} 2023 American Association for Cancer Research.",
year = "2023",
month = apr,
day = "1",
doi = "10.1158/1541-7786.MCR-22-0544",
language = "English (US)",
volume = "21",
pages = "301--306",
journal = "Molecular Cancer Research",
issn = "1541-7786",
publisher = "American Association for Cancer Research Inc.",
number = "4",
}