A rare case of pediatric MN1‐altered astroblastoma with concomitant ATM germline mutation

Pediatric Blood & Cancer(2023)

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Pediatric Blood & CancerEarly View e30502 LETTER TO THE EDITOR A rare case of pediatric MN1-altered astroblastoma with concomitant ATM germline mutation Stephanie Chou, Stephanie Chou orcid.org/0009-0005-8529-9180 CHOC Children's Hospital of Orange County, Department of Pediatrics, University of California Irvine, Department of Pediatrics, Irvine, California, USASearch for more papers by this authorAli Nael, Ali Nael orcid.org/0000-0002-9671-5531 CHOC Children's Hospital of Orange County, Department of Pathology, University of California Irvine, Department of Pathology, Irvine, California, USASearch for more papers by this authorJohn R. Crawford, John R. Crawford CHOC Children's Hospital of Orange County, Department of Neurology and Neurosciences Institute, Department of Pediatrics Division of Child Neurology and University of California Irvine, Orange, California, USASearch for more papers by this authorMariko Sato, Corresponding Author Mariko Sato [email protected] CHOC Children's Hospital of Orange County, Department of Neurology and Neurosciences Institute, Orange, USA CHOC Children's Hospital of Orange County, Department of Oncology, Orange, California, USA Correspondence Mariko Sato, CHOC Children's Hospital of Orange County, Department of Oncology, Orange, CA, USA. Email: [email protected]Search for more papers by this author Stephanie Chou, Stephanie Chou orcid.org/0009-0005-8529-9180 CHOC Children's Hospital of Orange County, Department of Pediatrics, University of California Irvine, Department of Pediatrics, Irvine, California, USASearch for more papers by this authorAli Nael, Ali Nael orcid.org/0000-0002-9671-5531 CHOC Children's Hospital of Orange County, Department of Pathology, University of California Irvine, Department of Pathology, Irvine, California, USASearch for more papers by this authorJohn R. Crawford, John R. Crawford CHOC Children's Hospital of Orange County, Department of Neurology and Neurosciences Institute, Department of Pediatrics Division of Child Neurology and University of California Irvine, Orange, California, USASearch for more papers by this authorMariko Sato, Corresponding Author Mariko Sato [email protected] CHOC Children's Hospital of Orange County, Department of Neurology and Neurosciences Institute, Orange, USA CHOC Children's Hospital of Orange County, Department of Oncology, Orange, California, USA Correspondence Mariko Sato, CHOC Children's Hospital of Orange County, Department of Oncology, Orange, CA, USA. Email: [email protected]Search for more papers by this author First published: 30 June 2023 https://doi.org/10.1002/pbc.30502Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1 WHO Classification of Tumours Editorial Board. World Health Organization classification of tumours of the central nervous system. 5th ed. Lyon: International Agency for Research on Cancer; 2021. 2Mhatre R, Sugur HS, Nandeesh BN, Chickabasaviah Y, Saini J, Santosh V. MN1 rearrangement in astroblastoma: study of eight cases and review of literature. Brain Tumor Pathol. 2019; 36(3): 112-120. 3Petruzzellis G, Alessi I, Colafati GS, et al. Role of DNA methylation profile in diagnosing astroblastoma: a case report and literature review. Front Genet. 2019; 10: 391. 4Bailey P, Cushing H. A Classification of the Tumors of the Glioma Group on a Histogenetic Basis with a Correlated Study of Prognosis. JB Lippincott; 1926. 5Bailey P, Bucy P. Astroblastomas of the brain. Acta Psychiat Neurol. 1930; 5: 439-461. 6Hirose T, Nobusawa S, Sugiyama K, et al. Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement. Brain Pathol. 2018; 28(5): 684-694. 7Tsutsui T, Arakawa Y, Makino Y, et al. Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report. Brain Tumor Pathol. 2021; 38(4): 283-289. 8Sari R, Altinoz MA, Ozyar E, Danyeli AE, Elmaci I. A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology “high grade neuroepithelial tumor with MN1 alteration” still be relevant? Childs Nerv Syst. 2021; 37(10): 2967-2974. 9Sturm D, Orr BA, Toprak UH, et al. New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell. 2016; 164(5): 1060-1072. 10Salvati M, D'Elia A, Brogna C, et al. Cerebral astroblastoma: analysis of six cases and critical review of treatment options. J Neurooncol. 2009; 93(3): 369-378. 11Ahmed KA, Allen PK, Mahajan A, Brown PD, Ghia AJ. Astroblastomas: a Surveillance, Epidemiology, and End Results (SEER)-based patterns of care analysis. World Neurosurg. 2014; 82(1-2): e291-e297. 12Khanna KK. Cancer risk and the ATM gene: a continuing debate. J Natl Cancer Inst. 2000; 92(10): 795-802. 13Broeks A, Braaf LM, Huseinovic A, et al. The spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat. 2008; 107(2): 243-248. Early ViewOnline Version of Record before inclusion in an issuee30502 ReferencesRelatedInformation
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astroblastoma,mutation
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