Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2023; 22: 16-22
Клинико-морфологические особенности опухоли центральной нервной системы с внутренней тандемной дупликацией BCOR
https://doi.org/10.24287/1726-1708-2023-22-4-16-22Аннотация
В 2022 г. опухоль центральной нервной системы (ЦНС) с внутренней тандемной дупликацией BCOR (BCOR ITD) вошла в 5-е издание классификации Всемирной организации здравоохранения опухолей ЦНС в раздел «Эмбриональные опухоли ЦНС». Выделение данной опухоли как отдельной нозологической формы стало возможным благодаря определению характерного профиля метилирования ДНК и наличию повторяющейся генетической аберрации – BCOR ITD. В большинстве случаев опухоль возникает у детей младше 5 лет с локализацией в полушариях мозжечка или головного мозга. Ввиду редкой встречаемости и относительно недавнего выделения как отдельной нозологической формы опухоль ЦНС с BCOR ITD еще не так широко известна, что может приводить к диагностическим ошибкам. Наиболее частый входящий диагноз при направлении на пересмотр в референс-центр – «анапластическая/классическая медуллобластома». Цель настоящей статьи – выделение и обобщение характерных клинико-морфологических и иммунофенотипических особенностей опухоли ЦНС с BCOR ITD на основании 8 случаев, подтвержденных молекулярногенетически. Настоящее исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева.
Список литературы
1. Sturm D., Orr B.A., Toprak U.H., Hovestadt V., Jones D.T.W., Capper D. et al. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell 2016; 164 (5): 1060–72. DOI: 10.1016/j.cell.2016.01.015
2. Kao Y.C., Sung Y.-S., Zhang L., Jungbluth A.A., Huang S.C., Argani P., et al. BCOR overexpression is a highly sensitive marker in round cell sarcomas with BCOR genetic abnormalities. Am J Surg Pathol 2016; 40 (12): 1670–8. DOI: 10.1097/PAS.0000000000000697
3. Roy A., Kumar V., Zorman B., Fang E., Haines K.M., Doddapaneni H.V., et al. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 2015; 6: 1–7. DOI: 10.1038/ncomms9891
4. Ueno-Yokohata H., Okita H., Nakasato K., Akimoto S., Hata J.-I., Koshinaga T., et al. Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nat Genet 2015; 47 (8): 861–3. DOI: 10.1038/ng.3338
5. Antonescu C.R., Kao Y.-C., Xu B., Fujisawa Y., Chung C., Fletcher C.D.M., et al. Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study. Mod Pathol 2020; 33 (9): 1669–77. DOI: 10.1038/s41379-020-0557-5
6. Santiago T., Clay M.R., Allen S.J., Orr B.A. Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol 2017; 30 (6): 884–91. DOI: 10.1038/modpathol.2017.12
7. Yoshida Y.H.Y., Nobusawa S., Nakata S., Nakada M., Arakawa Y., Mineharu Y., et al. CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol 2018; 5: 710–20.
8. WHO Classification of soft tissue and bone tumours. 5th ed. Soft tissue and bone tumours. 2020.
9. Louis D.N., Perry A., Wesseling P., Brat D.J., Cree I.A., FigarellaBranger D., et al. The 2021 WHO classification of tumors of the central nervous system: A summary. Neuro Oncol 2021; 23 (8): 1231–51. DOI: 10.1093/neuonc/noab106
10. Appay R., Macagno N., Padovani L., Korshunov A., Kool M., André N., et al. HGNET-BCOR Tumors of the Cerebellum Clinicopathologic and Molecular Characterization of 3 Cases. Am J Surg Pathol 2017; 41 (9): 1254–60.
11. Ferris S.P. Velazquez Vega J., Aboian M., Lee J.C., Van Ziffle J., Onodera C., et al. High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication – a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 2020; 30 (1): 46–62. DOI: 10.1111/bpa.12747
12. Torre M., Meredith D.M., Dubuc A., Solomon D.A., Perry A., Vasudevaraja V., et al. Recurrent EP300-BCOR fusions in pediatric gliomas with distinct clinicopathologic features. J Neuropathol Exp Neurol 2019; 78 (4): 305–14. DOI: 10.1093/jnen/nlz011
Pediatric Hematology/Oncology and Immunopathology. 2023; 22: 16-22
Clinical and morphological features of central nervous system tumor with BCOR internal tandem duplication
https://doi.org/10.24287/1726-1708-2023-22-4-16-22Abstract
In 2022, central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR ITD) was included in the fifth edition of the World Health Organization Classification of Tumors of the CNS as part of the embryonal tumor group. The identification a distinct DNA methylation profile and the presence of a recurrent genetic aberration – BCOR ITD – made it possible to recognize these tumors as a separate entity. In most cases, these tumors occur in children under 5 years of age and are located in the hemispheres of the cerebellum or brain. Since CNS tumor with BCOR ITD is a rare and relatively new tumor entity, it is not yet widely known and can be misdiagnosed. The most common initial diagnosis in patients referred for a second opinion to our reference center is anaplastic/classical medulloblastoma. In this article, we aimed to summarize the characteristic clinical, morphological and immunophenotypic features of CNS tumors with BCOR ITD based on 8 clinical cases confirmed by molecular genetic testing. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology.
References
1. Sturm D., Orr B.A., Toprak U.H., Hovestadt V., Jones D.T.W., Capper D. et al. New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell 2016; 164 (5): 1060–72. DOI: 10.1016/j.cell.2016.01.015
2. Kao Y.C., Sung Y.-S., Zhang L., Jungbluth A.A., Huang S.C., Argani P., et al. BCOR overexpression is a highly sensitive marker in round cell sarcomas with BCOR genetic abnormalities. Am J Surg Pathol 2016; 40 (12): 1670–8. DOI: 10.1097/PAS.0000000000000697
3. Roy A., Kumar V., Zorman B., Fang E., Haines K.M., Doddapaneni H.V., et al. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 2015; 6: 1–7. DOI: 10.1038/ncomms9891
4. Ueno-Yokohata H., Okita H., Nakasato K., Akimoto S., Hata J.-I., Koshinaga T., et al. Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nat Genet 2015; 47 (8): 861–3. DOI: 10.1038/ng.3338
5. Antonescu C.R., Kao Y.-C., Xu B., Fujisawa Y., Chung C., Fletcher C.D.M., et al. Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study. Mod Pathol 2020; 33 (9): 1669–77. DOI: 10.1038/s41379-020-0557-5
6. Santiago T., Clay M.R., Allen S.J., Orr B.A. Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol 2017; 30 (6): 884–91. DOI: 10.1038/modpathol.2017.12
7. Yoshida Y.H.Y., Nobusawa S., Nakata S., Nakada M., Arakawa Y., Mineharu Y., et al. CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol 2018; 5: 710–20.
8. WHO Classification of soft tissue and bone tumours. 5th ed. Soft tissue and bone tumours. 2020.
9. Louis D.N., Perry A., Wesseling P., Brat D.J., Cree I.A., FigarellaBranger D., et al. The 2021 WHO classification of tumors of the central nervous system: A summary. Neuro Oncol 2021; 23 (8): 1231–51. DOI: 10.1093/neuonc/noab106
10. Appay R., Macagno N., Padovani L., Korshunov A., Kool M., André N., et al. HGNET-BCOR Tumors of the Cerebellum Clinicopathologic and Molecular Characterization of 3 Cases. Am J Surg Pathol 2017; 41 (9): 1254–60.
11. Ferris S.P. Velazquez Vega J., Aboian M., Lee J.C., Van Ziffle J., Onodera C., et al. High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication – a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 2020; 30 (1): 46–62. DOI: 10.1111/bpa.12747
12. Torre M., Meredith D.M., Dubuc A., Solomon D.A., Perry A., Vasudevaraja V., et al. Recurrent EP300-BCOR fusions in pediatric gliomas with distinct clinicopathologic features. J Neuropathol Exp Neurol 2019; 78 (4): 305–14. DOI: 10.1093/jnen/nlz011
