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Primary intracranial sarcoma, DICER1-mutant

MedGen UID:
1805730
•Concept ID:
C5670660
•
Neoplastic Process
Synonyms: Primary Intracranial Sarcoma, DICER1-Mutant; primary intracranial sarcoma, DICER1-mutant
 
Monarch Initiative: MONDO:0858967

Definition

A primary intracranial sarcoma composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. [from NCI]

Recent clinical studies

Etiology

Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement.
d'Amati A, Gianno F, Scuccimarri L, Lastilla M, Messina R, Signorelli F, Zimatore DS, Barresi S, Miele E, Alaggio R, Rossi S, Maiorano E, Ingravallo G, Giangaspero F, Antonelli M
Acta Neuropathol Commun 2023 Jun 13;11(1):95. doi: 10.1186/s40478-023-01596-9. PMID: 37312212Free PMC Article
Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions.
Gojo J, Kjaersgaard M, Zezschwitz BV, Capper D, Tietze A, Kool M, Haberler C, Pizer B, Hoff KV
Eur J Med Genet 2023 Jan;66(1):104660. Epub 2022 Nov 7 doi: 10.1016/j.ejmg.2022.104660. PMID: 36356895

Diagnosis

Imaging Features of Primary Intracranial Sarcoma with DICER1 Mutation: A Multicenter Case Series.
Eldaya RW, Fagan RJ, Dagher SA, Roy A, Dahyia S, Fuller GN, Wintermark M, Parsons MS, Huisman TAGM
AJNR Am J Neuroradiol 2024 May 9;45(5):626-631. doi: 10.3174/ajnr.A8192. PMID: 38637027Free PMC Article
Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.
Lachance A, Dimentberg E, Huang S, Bergeron-Gravel S, Bouffet É, Fonseca A, Crevier L, Saikali S, Bourget C, Giannakouros P, Faury D, Jabado N, Foulkes WD, Larouche V, Renzi S
Childs Nerv Syst 2024 Jun;40(6):1965-1969. Epub 2024 Mar 13 doi: 10.1007/s00381-024-06356-1. PMID: 38478067
Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement.
d'Amati A, Gianno F, Scuccimarri L, Lastilla M, Messina R, Signorelli F, Zimatore DS, Barresi S, Miele E, Alaggio R, Rossi S, Maiorano E, Ingravallo G, Giangaspero F, Antonelli M
Acta Neuropathol Commun 2023 Jun 13;11(1):95. doi: 10.1186/s40478-023-01596-9. PMID: 37312212Free PMC Article
Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions.
Gojo J, Kjaersgaard M, Zezschwitz BV, Capper D, Tietze A, Kool M, Haberler C, Pizer B, Hoff KV
Eur J Med Genet 2023 Jan;66(1):104660. Epub 2022 Nov 7 doi: 10.1016/j.ejmg.2022.104660. PMID: 36356895
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.
Alexandrescu S, Meredith DM, Lidov HG, Alaggio R, Novello M, Ligon KL, Vargas SO
Histopathology 2021 Jan;78(2):265-275. Epub 2020 Nov 9 doi: 10.1111/his.14217. PMID: 32692439

Prognosis

Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.
Lachance A, Dimentberg E, Huang S, Bergeron-Gravel S, Bouffet É, Fonseca A, Crevier L, Saikali S, Bourget C, Giannakouros P, Faury D, Jabado N, Foulkes WD, Larouche V, Renzi S
Childs Nerv Syst 2024 Jun;40(6):1965-1969. Epub 2024 Mar 13 doi: 10.1007/s00381-024-06356-1. PMID: 38478067

Clinical prediction guides

Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement.
d'Amati A, Gianno F, Scuccimarri L, Lastilla M, Messina R, Signorelli F, Zimatore DS, Barresi S, Miele E, Alaggio R, Rossi S, Maiorano E, Ingravallo G, Giangaspero F, Antonelli M
Acta Neuropathol Commun 2023 Jun 13;11(1):95. doi: 10.1186/s40478-023-01596-9. PMID: 37312212Free PMC Article
Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.
Tauziède-Espariat A, Hasty L, Métais A, Varlet P
Acta Neuropathol Commun 2023 Feb 3;11(1):22. doi: 10.1186/s40478-023-01522-z. PMID: 36737790Free PMC Article
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.
Alexandrescu S, Meredith DM, Lidov HG, Alaggio R, Novello M, Ligon KL, Vargas SO
Histopathology 2021 Jan;78(2):265-275. Epub 2020 Nov 9 doi: 10.1111/his.14217. PMID: 32692439

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