BIOM-51. MOLECULAR SUBTYPES, CLINICAL CHARACTERISTICS, AND THERAPEUTIC IMPLICATIONS FOR CNS TUMORS WITH<i>BCOR/BCORL1</i> FUSION/INTERNAL TANDEM DUPLICATION

Abstract Central nervous system (CNS) tumors with either BCOR internal tandem duplication (BCOR ITD) or gene fusions involving BCOR/BCORL1 (BCOR FUS) are recognized as tumor types with characteristic molecular and clinical features but lacking clear therapeutic guidance. In an extensive international effort, we compiled a retrospective cohort of 229 (148 BCOR ITD, 81 BCOR FUS) unique cases via molecular profiling of CNS tumors. By analyzing DNA methylation patterns of 220 tumors we confirmed distinct epigenetic profiles of BCOR ITD versus BCOR FUS. The majority (91 percent) of BCOR FUS primary tumors was localized in the supratentorial region whereas BCOR ITD were localized across all anatomical CNS compartments. Median patient age at diagnosis was 20 years for BCOR FUS and 4 years for BCOR ITD. Metastatic disease was rare in BCOR FUS patients but more common in BCOR ITD tumors where 10 percent presented with metastatic disease and one third showed CNS or (rarely) extra-CNS metastasis in the course of disease. This was also reflected in clinical outcome as 5-year overall survival (OS) was 89 percent in BCOR FUS but 61 percent in BCOR ITD. In contrast, 5-year progression-free survival (PFS) was comparable reaching 27 percent in BCOR FUS and 30 percent in BCOR ITD. Integrating treatment details we found a trend towards benefit of gross-total resection on OS (BCOR FUS, n=18, p&amp;lt;0.08; BCOR ITD, n=67, p&amp;lt;0.12) but not for PFS (BCOR FUS, n=16, p&amp;lt;0.33; BCOR ITD, n=64, p&amp;lt;0.59). Radiotherapy was associated with improved PFS (BCOR FUS, n=18, p&amp;lt;0.01; BCOR ITD, n=70, p&amp;lt;0.001) and OS (BCOR FUS, n=20, p&amp;lt;0.01; BCOR ITD, n=73, p&amp;lt;0.001). Further in-depth analyses of clinical outcome parameters (primary metastatic disease, radiotherapy approach, chemotherapy type, patient age) are currently ongoing. In summary, we provide first robust annotation of CNS BCOR tumor types, clinical outcomes and therapy.

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Journal
Neuro-Oncology
Published
2024-11-01
DOI
https://doi.org/10.1093/neuonc/noae165.0123
Primary Topic
Glioma Diagnosis and Treatment
Type
article
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article

BIOM-51. MOLECULAR SUBTYPES, CLINICAL CHARACTERISTICS, AND THERAPEUTIC IMPLICATIONS FOR CNS TUMORS WITHBCOR/BCORL1 FUSION/INTERNAL TANDEM DUPLICATION

Tadeja Urbanic-Purkart, Mariella G. Filbin, L. I. Papusha, Sanda Alexandrescu et al.
Neuro-Oncology
Glioma Diagnosis and Treatment
article

BIOM-51. MOLECULAR SUBTYPES, CLINICAL CHARACTERISTICS, AND THERAPEUTIC IMPLICATIONS FOR CNS TUMORS WITHBCOR/BCORL1 FUSION/INTERNAL TANDEM DUPLICATION

Tadeja Urbanic-Purkart, Mariella G. Filbin, L. I. Papusha, Sanda Alexandrescu, Sebastian Brandner, Damian Stichel, Christof M. Kramm, Dominik Sturm, Kristyn Galbraith, Martin Hasselblatt, Jens Bunt, Jordan R. Hansford, Romain Appay, Kornelius Kerl, Evelina Miele, Andrey Korshunov, Johannes Gojo, Felix Schmitt-Hoffner, Mariëtte E.G. Kranendonk, Fouzia Ziad, David Capper, Dorothee Gramatzki, Stefan M. Pfister, Michal Zápotocký, Jens Pahnke, Zied Abdullaev, Arnault Tauziède‐Espariat, Katharina Bruckner, Sumihito Nobusawa, Kenneth Aldape, Felix Sahm, Ulrich Schüller, Marcel Kool, Maria Łastowska, Andrew M. Donson, Katja von Hoff, Pascale Varlet, Jasper van der Lugt, Matija Snuderl, Christine Haberler, Helen Toledano, Yassine Bouchoucha, Monika Mauermann, Martin Sill, Neal Geisemeyer, Nicolás André, Aniello Federico, Barbara Jones, Natalie Jäger, David A. Solomon
article en

Abstract

Abstract Central nervous system (CNS) tumors with either BCOR internal tandem duplication (BCOR ITD) or gene fusions involving BCOR/BCORL1 (BCOR FUS) are recognized as tumor types with characteristic molecular and clinical features but lacking clear therapeutic guidance. In an extensive international effort, we compiled a retrospective cohort of 229 (148 BCOR ITD, 81 BCOR FUS) unique cases via molecular profiling of CNS tumors. By analyzing DNA methylation patterns of 220 tumors we confirmed distinct epigenetic profiles of BCOR ITD versus BCOR FUS. The majority (91 percent) of BCOR FUS primary tumors was localized in the supratentorial region whereas BCOR ITD were localized across all anatomical CNS compartments. Median patient age at diagnosis was 20 years for BCOR FUS and 4 years for BCOR ITD. Metastatic disease was rare in BCOR FUS patients but more common in BCOR ITD tumors where 10 percent presented with metastatic disease and one third showed CNS or (rarely) extra-CNS metastasis in the course of disease. This was also reflected in clinical outcome as 5-year overall survival (OS) was 89 percent in BCOR FUS but 61 percent in BCOR ITD. In contrast, 5-year progression-free survival (PFS) was comparable reaching 27 percent in BCOR FUS and 30 percent in BCOR ITD. Integrating treatment details we found a trend towards benefit of gross-total resection on OS (BCOR FUS, n=18, p&amp;lt;0.08; BCOR ITD, n=67, p&amp;lt;0.12) but not for PFS (BCOR FUS, n=16, p&amp;lt;0.33; BCOR ITD, n=64, p&amp;lt;0.59). Radiotherapy was associated with improved PFS (BCOR FUS, n=18, p&amp;lt;0.01; BCOR ITD, n=70, p&amp;lt;0.001) and OS (BCOR FUS, n=20, p&amp;lt;0.01; BCOR ITD, n=73, p&amp;lt;0.001). Further in-depth analyses of clinical outcome parameters (primary metastatic disease, radiotherapy approach, chemotherapy type, patient age) are currently ongoing. In summary, we provide first robust annotation of CNS BCOR tumor types, clinical outcomes and therapy.

Neuro-OncologyVol. 26(Supplement_8)
Oslo University Hospital (NO), Boston Children's Hospital (US), National Institutes of Health (US), Harvard University (US), Universität Hamburg (DE), Tel Aviv University (IL), Gunma University (JP), German Cancer Research Center (DE), University of California, San Francisco (US), Medical University of Graz (AT), University of Zurich (CH), Charles University (CZ), Aix-Marseille Université (FR), Heidelberg University (DE), Women's and Children's Hospital (AU), Waikato Hospital (NZ), University Hospital Heidelberg (DE), Aarhus University Hospital (DK), University Medical Center (US), Humboldt-Universität zu Berlin (DE), Uniwersytecki Szpital Dziecięcy (PL), Comprehensive Cancer Center Vienna (AT), Morgan Adams Foundation (US), Institut de Neurophysiopathologie (FR), University Hospital of Zurich (CH), University Hospital Münster (DE), University Medical Center Hamburg-Eppendorf (DE), Schneider Children's Medical Center (IL), Children's Memorial Health Institute (PL), Hopp Children's Cancer Center Heidelberg (DE), Bambino Gesù Children's Hospital (IT), Centre Hospitalier Sainte-Anne (FR), Princess Máxima Center (NL), Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology (RU), Center for Cancer Research (US), National Hospital for Neurology and Neurosurgery (GB), Hôpital de la Timone (FR), Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US), Deutsches Konsortium für Translationale Krebsforschung (DE), University College London (GB), New York University (US), Freie Universität Berlin (DE), Medical University of Vienna (AT), Charité - Universitätsmedizin Berlin (DE), Institut Curie (FR)
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