RESUMO
In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular rearrangements involving the MN1 gene, with common partners being BEND2 or CXXC5 . Accordingly, this tumor entity is now known as "astroblastoma, MN1 -altered." However, gliomas with EWSR1::BEND2 fusions, devoid of MN1 fusion alterations, have recently been shown to exhibit astroblastoma-like histomorphologic features and reside in a distinct epigenetic subgroup based on DNA methylation studies similar to high-grade neuroepithelial tumor with MN1 alteration, which includes astroblastoma, MN1 altered tumors. This new epigenetically distinct subtype of astroblastoma containing EWSR1::BEND2 fusions lacks the required MN1 alteration and, thus, does not satisfy the current molecular classification of these lesions. Here, we describe a case of glioma with histologic features and DNA methylation profiling consistent with astroblastoma with a novel YAP1: : BEND2 fusion. This case and others further expand the molecular findings observable in astroblastoma-like tumors outside the constraints of MN1 alteration. Such cases of astroblastoma with EWSR1::BEND2 and YAP1::BEND2 fusions challenge the current molecular classification of astroblastoma based solely on an MN1 alteration.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Neoplasias Neuroepiteliomatosas , Proteínas de Fusão Oncogênica , Fatores de Transcrição , Proteínas de Sinalização YAP , Humanos , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/patologia , Fatores de Transcrição/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas de Fusão Oncogênica/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Masculino , Metilação de DNA , Fosfoproteínas/genética , FemininoRESUMO
6-mercaptopurine is a chemotherapeutic drug that exhibits hepatotoxic effects due to its toxic metabolites. This report describes a case of suspected drug-induced liver injury exacerbated by a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 16-year-old male with very high risk B-cell acute lymphoblastic leukemia was admitted for hyperbilirubinemia 2 months after a 6-mercaptopurine dosage increase and found to have an active SARS-CoV-2 infection. Liver function improved throughout hospitalization and the patient was discharged on allopurinol. Following liver function after a dosage increase of hepatoxic chemotherapy and in a pediatric oncology patient with an active SARS-CoV-2 infection undergoing treatment is vital due to potential liver impact.
