Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2023; 22: 127-133
Интракраниальные мезенхимальные опухоли со слиянием генов FET–CREB
https://doi.org/10.24287/1726-1708-2023-22-4-127-133Аннотация
Интракраниальные мезенхимальные опухоли с перестройкой генов семейств FET и CREB впервые были описаны в классификации опухолей центральной нервной системы Всемирной организации здравоохранения 2021 г. На сегодняшний день однозначно не определены критерии диагностики и терапии данного вида образований. В настоящей работе представлено 2 исключительно редких клинических случая пациентов подросткового возраста с интракраниальными мезенхимальными опухолями с наличием перестройки генов семейств FET и CREB, которые проходили лечение и обследование в ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России. Родители пациентов дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.
Список литературы
1. Louis D.N., Perry A., Wesseling P., Brat D.J., Cree I.A., Figarella-Branger 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
2. Dermawan J.K., Vanoli F., Herviou L., Sung Y.-S., Zhang L., Singer S., et al. Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates. Mod Pathol 2022; 35 (8): 1055–65. DOI: 10.1038/s41379-022-01023-9
3. Kao Y.C., Sung Y.S., Zhang L., Chen C.-L., Vaiyapuri S., Rosenblum M.K., Antonescu C.R. EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location. Am J Surg Pathol 2017; 41 (4): 482–90. DOI: 10.1097/PAS.0000000000000788
4. Bale T.A., Oviedo A., Kozakewich H., Giannini C., Davineni P.K., Ligon K., Alexandrescu S. Intracranial myxoid mesenchymal tumors with EWSR1–CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? Brain Pathol 2018; 28: 183–91. DOI: 10.1111/bpa.12504
5. Poyuran R., Shah S.P., Kesavapisharady K., Chandrasekharan K., Narasimhaiah D. Intracranial mesenchymal tumour with EWSR1 gene rearrangement: the first report of intracranial mesenchymal tumour with FET-CREB fusion from India. Pathology 2022; 54 (7): 945–8. doi:10.1016/j.pathol.2022.02.007
6. Tauziède-Espariat A., Sievers P., Larousserie F., Benzakoun J., Guillemot D, Pierron G., et al. An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB-fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts. Brain Pathol 2022; 32 (1): e13010. DOI: 10.1111/bpa.13010
7. Vizcaino M.A., Giannini C., Chang H.T., Kipp B.R., Fritchie K., Vaubel R. Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma. Brain Tumor Pathol 2021; 38 (2): 138–44. DOI: 10.1007/s10014-020-00389-5
8. Sloan E.A., Gupta R., Koelsche C., Chiang J., Villanueva-Meyer J.E., Alexandrescu S., et al. Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas. Brain Pathol 2022; 32: e13037. DOI: 10.1111/bpa.13037
9. Saito K., Kobayashi E., Yoshida A., Araki Y., Kubota D., Tanzawa Y., et al. Angiomatoid fibrous histiocytoma: a series of seven cases including genetically confirmed aggressive cases and a literature review. BMC Musculoskelet Disord 2017; 18 (1): 31. DOI: 10.1186/s12891-017-1390-y
10. Koelsche C., Schrimpf D., Stichel D., Sill M., Sahm F., Reuss D.E., et al. Sarcoma classification by DNA methylation profiling. Nat Commun 2021; 12 (1): 498. DOI: 10.1038/s41467-020-20603-4
11. Sloan E.A., Chiang J., Villanueva-Meyer J.E., Alexandrescu S., Eschbacher J.M., Wang W., et al. Intracranial mesenchymal tumor with FET-CREB fusion – A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms. Brain Pathol 2021; 31: e12918. DOI: 10.1111/bpa.12918
Pediatric Hematology/Oncology and Immunopathology. 2023; 22: 127-133
Intracranial mesenchymal tumors with FET–CREB fusion
https://doi.org/10.24287/1726-1708-2023-22-4-127-133Abstract
Intracranial mesenchymal tumors with rearrangements of the genes of the FET and CREB families were first described in the 2021 World Health Organization classification of tumors of the central nervous system. At the moment, the criteria for the diagnosis and treatment of these tumors have not been unambiguously defined. This article presents two exceptionally rare clinical cases of adolescent patients with IMT with the presence of gene rearrangement of the FET and CREB gene families, who were treated and examined at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The patients’ parents gave consent to the use of their children's data, including photographs, for research purposes and in publications.
References
1. Louis D.N., Perry A., Wesseling P., Brat D.J., Cree I.A., Figarella-Branger 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
2. Dermawan J.K., Vanoli F., Herviou L., Sung Y.-S., Zhang L., Singer S., et al. Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates. Mod Pathol 2022; 35 (8): 1055–65. DOI: 10.1038/s41379-022-01023-9
3. Kao Y.C., Sung Y.S., Zhang L., Chen C.-L., Vaiyapuri S., Rosenblum M.K., Antonescu C.R. EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location. Am J Surg Pathol 2017; 41 (4): 482–90. DOI: 10.1097/PAS.0000000000000788
4. Bale T.A., Oviedo A., Kozakewich H., Giannini C., Davineni P.K., Ligon K., Alexandrescu S. Intracranial myxoid mesenchymal tumors with EWSR1–CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? Brain Pathol 2018; 28: 183–91. DOI: 10.1111/bpa.12504
5. Poyuran R., Shah S.P., Kesavapisharady K., Chandrasekharan K., Narasimhaiah D. Intracranial mesenchymal tumour with EWSR1 gene rearrangement: the first report of intracranial mesenchymal tumour with FET-CREB fusion from India. Pathology 2022; 54 (7): 945–8. doi:10.1016/j.pathol.2022.02.007
6. Tauziède-Espariat A., Sievers P., Larousserie F., Benzakoun J., Guillemot D, Pierron G., et al. An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB-fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts. Brain Pathol 2022; 32 (1): e13010. DOI: 10.1111/bpa.13010
7. Vizcaino M.A., Giannini C., Chang H.T., Kipp B.R., Fritchie K., Vaubel R. Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma. Brain Tumor Pathol 2021; 38 (2): 138–44. DOI: 10.1007/s10014-020-00389-5
8. Sloan E.A., Gupta R., Koelsche C., Chiang J., Villanueva-Meyer J.E., Alexandrescu S., et al. Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas. Brain Pathol 2022; 32: e13037. DOI: 10.1111/bpa.13037
9. Saito K., Kobayashi E., Yoshida A., Araki Y., Kubota D., Tanzawa Y., et al. Angiomatoid fibrous histiocytoma: a series of seven cases including genetically confirmed aggressive cases and a literature review. BMC Musculoskelet Disord 2017; 18 (1): 31. DOI: 10.1186/s12891-017-1390-y
10. Koelsche C., Schrimpf D., Stichel D., Sill M., Sahm F., Reuss D.E., et al. Sarcoma classification by DNA methylation profiling. Nat Commun 2021; 12 (1): 498. DOI: 10.1038/s41467-020-20603-4
11. Sloan E.A., Chiang J., Villanueva-Meyer J.E., Alexandrescu S., Eschbacher J.M., Wang W., et al. Intracranial mesenchymal tumor with FET-CREB fusion – A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms. Brain Pathol 2021; 31: e12918. DOI: 10.1111/bpa.12918
