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Molecular profiling of pre- and post-treatment pediatric high-grade astrocytomas reveals acquired increased tumor mutation burden in a subset of recurrences.
Acta Neuropathol Commun
September 2023
Department of Pathology and Laboratory Medicine, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, L-113, Portland, OR, 97239, USA.
Article Synopsis
- Diffuse gliomas are complex brain tumors that often cannot be completely removed through surgery, leading to treatment with chemotherapy and radiation.* -
- Recurrent gliomas may have genetic alterations that affect their behavior and resistance to previous treatments, particularly when treated with the chemotherapy drug temozolomide.* -
- A study of eleven pediatric patients showed that increased tumor mutation burden at recurrence is significant, especially in cases of H3 G34-mutant diffuse hemispheric gliomas.*
Therapy-Acquired Clonal Mutations in Thiopurine Drug-Response Genes Drive Majority of Early Relapses in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.
Diagnostics (Basel)
February 2023
Pediatric Hematology Oncology Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.
Methods: Forty pediatric (0-12 years) B-ALL DNA samples (20 paired Diagnosis-Relapse) and an additional six B-ALL DNA samples (without relapse at 3 years post treatment), as the non-relapse arm, were retrieved from the biobank for advanced genomic analysis. Deep sequencing (1050-5000X; mean 1600X) was performed using a custom NGS panel of 74 genes incorporating unique molecular barcodes.
Results: A total 47 major clones (>25% VAF) and 188 minor clones were noted in 40 cases after bioinformatic data filtering.
Post-treatment hypermutation in a recurrent diffuse glioma with H3.3 p.G34 Mutation.
Neuropathol Appl Neurobiol
April 2021
Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, OR, USA.
Evaluation of Somatic Hypermutation Status in Chronic Lymphocytic Leukemia (CLL) in the Era of Next Generation Sequencing.
Front Cell Dev Biol
May 2020
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Somatic hypermutation (SHM) status provides an important prognostic indicator for chronic lymphocytic leukemia (CLL), a very common type of mature B-cell leukemia. Owing to the adverse prognosis associated with an unmutated immunoglobulin heavy chain variable (IGHV) status, SHM testing is performed as a standard of care in CLL. Conventionally, SHM testing has been performed using labor intensive and primarily analog Sanger sequencing method following PCR amplification of the clonal immunoglobulin heavy chain gene rearrangements in CLL cells.
View Article and Find Full Text PDFMechanisms and therapeutic implications of hypermutation in gliomas.
Nature
April 2020
Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
A high tumour mutational burden (hypermutation) is observed in some gliomas; however, the mechanisms by which hypermutation develops and whether it predicts the response to immunotherapy are poorly understood. Here we comprehensively analyse the molecular determinants of mutational burden and signatures in 10,294 gliomas. We delineate two main pathways to hypermutation: a de novo pathway associated with constitutional defects in DNA polymerase and mismatch repair (MMR) genes, and a more common post-treatment pathway, associated with acquired resistance driven by MMR defects in chemotherapy-sensitive gliomas that recur after treatment with the chemotherapy drug temozolomide.
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