Imaging Features of Primary Intracranial Sarcoma with DICER1 Mutation: A Multicenter Case Series

References

1. 1.↵
   WHO Classification of Tumours Editorial Board. Central Nervous System Tumors. 5th ed. International Agency for Research on Cancer 2022 (beta online version).
2. 2.↵
   WHO Classification of Tumours Editorial Board. Genetic Tumour Syndromes. 5th ed. International Agency for Research on Cancer 2021.
3. 3.↵
   1. Louis DN,
   2. Aldape K,
   3. Brat DJ, et al

   . cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy): A new initiative in advancing nervous system tumor classification. Brain Pathol 2017;27:851–52 doi:10.1111/bpa.12457 pmid:27997995

   CrossRefPubMed
4. 4.↵
   1. Louis DN,
   2. Aldape K,
   3. Brat DJ, et al

   . Announcing cIMPACT-NOW: the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. Acta Neuropathol 2017;133:1–3 doi:10.1007/s00401-016-1646-x pmid:27909809

   CrossRefPubMed
5. 5.↵
   1. Louis DN,
   2. Giannini C,
   3. Capper D, et al

   . cIMPACT-NOW update 2: Diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant. Acta Neuropathol 2018;135:639–42 doi:10.1007/s00401-018-1826-y pmid:29497819

   CrossRefPubMed
6. 6.↵
   1. Ellison DW,
   2. Hawkins C,
   3. Jones DTW, et al

   . cIMPACT-NOW update 4: Diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAFV600E mutation. Acta Neuropathol 2019;137:683–87 doi:10.1007/s00401-019-01987-0 pmid:30848347

   CrossRefPubMed
7. 7.↵
   1. Brat DJ,
   2. Aldape K,
   3. Colman H, et al

   . cIMPACT-NOW update 3: Recommended diagnostic criteria for “Diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV”. Acta Neuropathol 2018;136:805–10 doi:10.1007/s00401-018-1913-0 pmid:30259105

   CrossRefPubMed
8. 8.↵
   1. Louis DN,
   2. Ellison DW,
   3. Brat DJ, et al

   . cIMPACT-NOW: A practical summary of diagnostic points from Round 1 updates. Brain Pathol 2019;29:469–72 doi:10.1111/bpa.12732 pmid:31038238

   CrossRefPubMed
9. 9.↵
   1. Louis DN,
   2. Wesseling P,
   3. Aldape K, et al

   . cIMPACT-NOW update 6: New entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading. Brain Pathol 2020;30:844–56 doi:10.1111/bpa.12832 pmid:32307792

   CrossRefPubMed
10. 10.↵
    1. Rigsby RK,
    2. Brahmbhatt P,
    3. Desai AB, et al

    . Newly recognized CNS tumors in the 2021 World Health Organization Classification: Imaging overview with histopathologic and genetic correlation. AJNR Am J Neuroradiol 2023;44:367–80 doi:10.3174/ajnr.A7827 pmid:36997287

    CrossRefPubMed
11. 11.↵
    1. Kamihara J,
    2. Paulson V,
    3. Breen MA, et al

    . DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. Mod Pathol 2020;33:1910–21 doi:10.1038/s41379-020-0516-1 pmid:32291395

    CrossRefPubMed
12. 12.↵
    1. Lee JC,
    2. Villanueva-Meyer JE,
    3. Ferris SP, et al

    . Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. Acta Neuropathol 2019;137:521–25 doi:10.1007/s00401-019-01960-x pmid:30649606

    CrossRefPubMed
13. 13.↵
    1. Marinelli A,
    2. Cuomo M,
    3. Franca RA, et al

    . A rare adult primary intracranial sarcoma, DICER1-mutant identified by epigenomic profiling: A case report. Brain Sci 2023;13:235 doi:10.3390/brainsci13020235

    CrossRefPubMed
14. 14.↵
    1. Sakaguchi M,
    2. Nakano Y,
    3. Honda-Kitahara M, et al

    . Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a “spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant. Brain Tumor Pathol 2021;4:174–182
15. 15.↵
    1. Nejo T,
    2. Takayanagi S,
    3. Tanaka S, et al

    . Primary intracranial spindle cell sarcoma, DICER1-mutant, with MDM2 amplification diagnosed on the basis of extensive molecular profiling. Clin Med Insights Case Rep 2022;15: doi:10.1177/11795476221131189 pmid:36277904

    CrossRefPubMed
16. 16.↵
    1. Diaz Coronado RY,
    2. Mynarek M,
    3. Koelsche C, et al

    . Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients. Cancer 2022;128:697–707 doi:10.1002/cncr.33977 pmid:34674226

    CrossRefPubMed
17. 17.↵
    1. Merimsky O,
    2. Lepechoux C,
    3. Terrier P, et al

    . Primary sarcomas of the central nervous system. Oncology 2000;58:210–14 doi:10.1159/000012102 pmid:10765122

    CrossRefPubMed
18. 18.↵
    1. Zhang G,
    2. Xiao B,
    3. Huang H, et al

    . Intracranial synovial sarcoma: a clinical, radiological and pathological study of 16 cases. Eur J Surg Oncol 2019;45:2379–85 doi:10.1016/j.ejso.2019.08.015 pmid:31445769

    CrossRefPubMed
19. 19.↵
    1. Ripperger T,
    2. Bielack SS,
    3. Borkhardt A, et al

    . Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet A 2017;173:1017–37 doi:10.1002/ajmg.a.38142 pmid:28168833

    CrossRefPubMed
20. 20.↵
    1. Alexandrescu S,
    2. Meredith DM,
    3. Lidov HG, et al

    . Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. Histopathology 2021;78:265–75 doi:10.1111/his.14217 pmid:32692439

    CrossRefPubMed
21. 21.↵
    1. Tauziède-Espariat A,
    2. Hasty L,
    3. Métais A, et al

    . Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities. Acta Neuropathol Commun 2023;11:22 doi:10.1186/s40478-023-01522-z pmid:36737790

    CrossRefPubMed
22. 22.↵
    1. Cardona AF,
    2. Chamorro Ortiz DF,
    3. Ruíz-Patiño A, et al

    . DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients. Neurooncol Pract 2023;10:381–90 doi:10.1093/nop/npad014 pmid:37457227

    CrossRefPubMed
23. 23.↵
    1. Wolf T,
    2. Coca AH,
    3. Weingertner N, et al

    . All pineal tumors expressing germ cell tumor markers are not necessarily germ cell tumors: histopathological and molecular study of a midline primary intracranial sarcoma DICER1-mutant. Virchows Arch 2023;482:431–35 doi:10.1007/s00428-022-03440-2 pmid:36307659

    CrossRefPubMed