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Open Access 01-12-2023 | Sarcoma | Review

Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities

Authors: Arnault Tauziède-Espariat, Lauren Hasty, Alice Métais, Pascale Varlet

Published in: Acta Neuropathologica Communications | Issue 1/2023

Abstract

The fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System (CNS) now includes mesenchymal tumors that occur uniquely or frequently in the CNS. Moreover, this version has aligned the terminology of mesenchymal tumors with their soft tissue counterparts. New tumor types have been added, such as the “intracranial mesenchymal tumor, FET-CREB fusion-positive”, the “CIC-rearranged sarcoma”, and the “Primary intracranial sarcoma, DICER1-mutant”. Other entities (such as rhabdomyosarcoma) have remained in the current WHO classification because these tumor types may present specificities in the CNS as compared to their soft tissue counterparts. Based on an extensive literature review, herein, we will discuss these newly recognized entities in terms of clinical observation, radiology, histopathology, genetics and outcome, and consider strategies for an accurate diagnosis. In light of this literature analysis, we will also introduce some potentially novel tumor types.

Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D et al (2021) The 2021 WHO classification of tumors of the Central Nervous System: a summary. Neuro-Oncol 23:1231–1251CrossRef

Bale TA, Oviedo A, Kozakewich H, Giannini C, Davineni PK, Ligon K et al (2018) Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? Brain Pathol Zurich Switz 28:183–191CrossRef

Ballester LY, Meis JM, Lazar AJ, Prabhu SS, Hoang KB, Leeds NE et al (2020) Intracranial myxoid mesenchymal tumor with EWSR1-ATF1 Fusion. J Neuropathol Exp Neurol 79:347–351CrossRef

Bin Abdulqader S, Altuhaini K, Tallab R, AlTurkistani A, Alhussinan M, Alghamdi S et al (2020) Primary intracranial angiomatoid fibrous histiocytoma: two case reports and literature review. World Neurosurg 143:398–404CrossRef

Choy B, Pytel P (2016) Primary intracranial myoepithelial neoplasm: a potential Mimic of Meningioma. Int J Surg Pathol 24:243–247CrossRef

De Los Santos Y, Shin D, Malnik S, Rivera-Zengotita M, Tran D, Ghiaseddin A et al (2021) Intracranial myxoid mesenchymal neoplasms with EWSR1 gene rearrangement: report of 2 midline cases with one demonstrating durable response to MET inhibitor monotherapy. Neuro-Oncol Adv 3:vdab016CrossRef

Dunham C, Hussong J, Seiff M, Pfeifer J, Perry A (2008) Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes. Am J Surg Pathol 32:478–484CrossRef

Ghanbari N, Lam A, Wycoco V, Lee G (2019) Intracranial myxoid variant of angiomatoid fibrous histiocytoma: a case report and literature review. Cureus 11:e4261

Hansen JM, Larsen VA, Scheie D, Perry A, Skjøth-Rasmussen J (2015) Primary intracranial angiomatoid fibrous histiocytoma presenting with anaemia and migraine-like headaches and aura as early clinical features. Cephalalgia Int J Headache 35:1334–1336CrossRef

10.

Kao Y-C, Sung Y-S, Zhang L, Chen C-L, Vaiyapuri S, Rosenblum MK et al (2017) EWSR1 fusions with CREB family transcription factors define a novel myxoid mesenchymal tumor with predilection for intracranial location. Am J Surg Pathol 41:482–490CrossRef

11.

Kim NR, Kim S-I, Park JW, Park C-K, Chung CK, Choi S-H et al (2022) Brain parenchymal angiomatoid fibrous histiocytoma and spinal myxoid mesenchymal tumor with FET: CREB fusion, a spectrum of the same tumor type. Neuropathol Off J Jpn Soc Neuropathol 5:796

12.

Komatsu M, Yoshida A, Tanaka K, Matsuo K, Sasayama T, Kojita Y et al (2020) Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: a case report and literature review. Brain Tumor Pathol 37:76–80CrossRef

13.

Konstantinidis A, Cheesman E, O’Sullivan J, Pavaine J, Avula S, Pizer B et al (2019) Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions: a report of 2 Pediatric cases. World Neurosurg 126:113–119CrossRef

14.

Lemnos L, Salle H, Caire F, Duchesne M (2022) Angiomatoid fibrous histiocytoma: an atypical brain location newly described as intracranial mesenchymal tumor FET-CREB fusion-positive. Acta Neurol Belg 8:745

15.

Levy AS, Sakellakis A, Luther E, Morell AA, Rosenberg A, Saad AG et al (2022) Concurrent intraventricular intracranial myxoid mesenchymal tumor and ependymoma in a long-term ewing sarcoma survivor. Neuropathol Off J Jpn Soc Neuropathol 5:960

16.

Libbrecht S, Van Der Meulen J, Mondelaers V, Baert E, Vande Walle C, Van Dorpe J et al (2020) Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion. Pathol Res Pract 216:153239CrossRef

17.

Liu C, Liu Y, Zhao Y, Wei J, Ma Y, Liu Y et al (2020) Primary intracranial mesenchymal tumor with EWSR1-CREM gene fusion: a case report and literature review. World Neurosurg 142:318–324CrossRef

18.

Ochalski PG, Edinger JT, Horowitz MB, Stetler WR, Murdoch GH, Kassam AB et al (2010) Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage. J Neurosurg 112:978–982CrossRef

19.

Poyuran R, Shah SP, Kesavapisharady K, Chandrasekharan K, Narasimhaiah D (2022) Intracranial mesenchymal tumour with EWSR1 gene rearrangement: the first report of intracranial mesenchymal tumour with FET-CREB fusion from India. Pathology (Phila). 31:3025

20.

Sasaki M, Hirono S, Gao Y, Suda I, Matsutani T, Ota M et al (2022) Clinicopathological and genomic features of Pediatric Intracranial Myxoid Mesenchymal Tumor with both of EWSR1-CREM Gene Fusion and MAP3K13 Mutation: a case report and comparison with adult cases in the literature. NMC Case Rep J 9:101–109CrossRef

21.

Sciot R, Jacobs S, Calenbergh FV, Demaerel P, Wozniak A, Debiec-Rychter M (2018) Primary myxoid mesenchymal tumour with intracranial location: report of a case with a EWSR1-ATF1 fusion. Histopathology 72:880–883CrossRef

22.

Sloan EA, Chiang J, Villanueva-Meyer JE, Alexandrescu S, Eschbacher JM, Wang W et al (2020) 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 Zurich Switz 8

23.

Sloan EA, Gupta R, Koelsche C, Chiang J, Villanueva-Meyer JE, Alexandrescu S et al (2021) Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas. Brain Pathol Zurich Switz 7

24.

Tan NJH, Pratiseyo PD, Wahjoepramono EJ, Kuick CH, Goh JY, Chang KTE et al (2021) Intracranial myxoid angiomatoid fibrous histiocytoma with “classic” histology and EWSR1:CREM fusion providing insight for reconciliation with intracranial myxoid mesenchymal tumors. Neuropathol Off J Jpn Soc Neuropathol 41:306–314CrossRef

25.

Tauziède-Espariat A, Sievers P, Larousserie F, Benzakoun J, Guillemot D, Pierron G et al (2022) 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 Zurich Switz 32:e13010

26.

Valente Aguiar P, Pinheiro J, Lima J, Vaz R, Linhares P (2021) Myxoid mesenchymal intraventricular brain tumour with EWSR1-CREB1 gene fusion in an adult woman. Virchows Arch Int J Pathol 478:1019–1024CrossRef

27.

Vizcaino MA, Giannini C, Chang HT, Kipp BR, Fritchie K, Vaubel R (2021) Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma. Brain Tumor Pathol 38:138–144CrossRef

28.

Ward B, Wang CP, Macaulay RJB, Liu JKC (2020) Adult intracranial myxoid mesenchymal tumor with EWSR1-ATF1 Gene Fusion. World Neurosurg 143:91–96CrossRef

29.

White MD, McDowell MM, Pearce TM, Bukowinski AJ, Greene S (2019) Intracranial myxoid mesenchymal tumor with rare EWSR1-CREM translocation. Pediatr Neurosurg 54:347–353CrossRef

30.

Alshareef MA, Almadidy Z, Baker T, Perry A, Welsh CT, Vandergrift WA (2016) Intracranial angiomatoid fibrous histiocytoma: case report and literature review. World Neurosurg 96:403–409CrossRef

31.

Hojo K, Furuta T, Komaki S, Yoshikane Y, Kikuchi J, Nakamura H et al (2022) Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL-6/STAT3 signaling. Neuropathol Off J Jpn Soc Neuropathol 2:187

32.

Kambe A, Kuwamoto S, Shimizu T, Amisaki H, Sakamoto M, Inagaki H et al (2021) A case of intracranial myxoid mesenchymal tumor with EWSR1:CREM fusion in an adult female: extensive immunohistochemical evaluation. Neuropathol Off J Jpn Soc Neuropathol 41:315–323CrossRef

33.

Velz J, Agaimy A, Frontzek K, Neidert MC, Bozinov O, Wagner U et al (2018) Molecular and clinicopathologic heterogeneity of intracranial tumors mimicking Extraskeletal Myxoid Chondrosarcoma. J Neuropathol Exp Neurol 77:727–735CrossRef

34.

Tauziède-Espariat A, Pierron G, Guillemot D, Benevello C, Pallud J, Benzakoun J et al (2022) An extracranial CNS presentation of the emerging “intracranial” mesenchymal tumor, FET: CREB-fusion positive. Brain Tumor Pathol 5:174

35.

Shaikh ST, Hajra D, Singh S, Nagaraju S, El-Maghraby H (2022) Intracranial myxoid mesenchymal tumour with EWSR1-ATF1 fusion sans myxoid stroma-report of a newer entity with brief review of literature. Neurol India 70:1639–1642CrossRef

36.

Tauziède-Espariat A, Pierron G, Guillemot D, Sievers P, Cazals-Hatem D, Faillot T et al (2021) A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes. Acta Neuropathol Commun 9:174CrossRef

37.

Bielle F, Zanello M, Guillemot D, Gil-Delgado M, Bertrand A, Boch A-L et al (2014) Unusual primary cerebral localization of a CIC-DUX4 translocation tumor of the ewing sarcoma family. Acta Neuropathol (Berl) 128:309–311CrossRef

38.

Hu W, Wang J, Yuan L, Zhang X, Ji Y, Song C et al (2020) Case report: a unique case of pediatric central nervous system embryonal tumor harboring the CIC-LEUTX fusion, germline NBN variant and somatic TSC2 mutation: expanding the spectrum of CIC-rearranged neoplasia. Front Oncol 10:598970CrossRef

39.

Ito M, Ishikawa M, Kitajima M, Narita J, Hattori S, Endo O et al (2016) A case report of CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum. Diagn Cytopathol 44:828–832CrossRef

40.

Lake JA, Donson AM, Prince E, Davies KD, Nellan A, Green AL et al (2020) Targeted fusion analysis can aid in the classification and treatment of pediatric glioma, ependymoma, and glioneuronal tumors. Pediatr Blood Cancer 67:e28028CrossRef

41.

Łastowska M, Trubicka J, Sobocińska A, Wojtas B, Niemira M, Szałkowska A et al (2020) Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes. Acta Neuropathol Commun 8:105CrossRef

42.

Le Loarer F, Pissaloux D, Watson S, Godfraind C, Galmiche-Rolland L, Silva K et al (2019) Clinicopathologic features of CIC-NUTM1 Sarcomas, a new molecular variant of the family of CIC-Fused Sarcomas. Am J Surg Pathol 43:268–276CrossRef

43.

Pratt D, Kumar-Sinha C, Cieślik M, Mehra R, Xiao H, Shao L et al (2021) A novel ATXN1-DUX4 fusion expands the spectrum of “CIC-rearranged sarcoma” of the CNS to include non-CIC alterations. Acta Neuropathol (Berl) 141:619–622CrossRef

44.

Siegfried A, Masliah-Planchon J, Roux F-E, Larrieu-Ciron D, Pierron G, Nicaise Y et al (2019) Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia. Acta Neuropathol Commun 7:220CrossRef

45.

Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DTW, Capper D et al (2016) New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell 164:1060–1072CrossRef

46.

Yamada S, Muto J, De Leon JCA, Kumai T, Ito K, Murayama K et al (2020) Primary spinal intramedullary ewing-like sarcoma harboring CIC-DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma. Brain Tumor Pathol 37:111–117CrossRef

47.

Donahue JE, Yakirevich E, Zhong S, Treaba DO, Lakis NS, Ali SM et al (2018) Primary spinal epidural CIC-DUX4 undifferentiated sarcoma in a child. Pediatr Dev Pathol Off J Soc Pediatr Pathol Paediatr Pathol Soc 21:411–417CrossRef

48.

Song K, Huang Y, Xia C-D, Zhu H-Q, Wang J (2022) A case of CIC-rearranged sarcoma with CIC-LEUTX gene fusion in spinal cord. Neuropathol Off J Jpn Soc Neuropathol 2:179

49.

Satomi K, Ohno M, Kubo T, Honda-Kitahara M, Matsushita Y, Ichimura K et al (2022) Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC-rearranged sarcoma. Genes Chromosomes Cancer 61:683–688CrossRef

50.

Hung YP, Fletcher CD, Hornick JL (2016) Evaluation of ETV4 and WT1 expression in CIC-rearranged sarcomas and histologic mimics. Mod Pathol Off J U S Can Acad Pathol Inc 29:1324–1334

51.

Le Guellec S, Velasco V, Pérot G, Watson S, Tirode F, Coindre J-M (2016) ETV4 is a useful marker for the diagnosis of CIC-rearranged undifferentiated round-cell sarcomas: a study of 127 cases including mimicking lesions. Mod Pathol Off J U S Can Acad Pathol Inc 29:1523–1531

52.

Ouvrard C, Métais A, Brigot E, Berthaud C, Pucelle N, Lacombe J et al (2022) ETV4 immunohistostaining is a sensitive and specific diagnostic biomarker for CIC-rearranged sarcoma of the central nervous system. Histopathology 81:852–855CrossRef

53.

Huang S-C, Zhang L, Sung Y-S, Chen C-L, Kao Y-C, Agaram NP et al (2016) Recurrent CIC Gene Abnormalities in Angiosarcomas: a molecular study of 120 cases with concurrent investigation of PLCG1, KDR, MYC, and FLT4 gene alterations. Am J Surg Pathol 40:645–655CrossRef

54.

Alexandrescu S, Meredith DM, Lidov HG, Alaggio R, Novello M, Ligon KL et al (2020) Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. Histopathology 2:104

55.

Das A, Roy P, Modi SK, Achari RB, Sen S, Singh A et al (2019) Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy. Pediatr Blood Cancer 66:e27744CrossRef

56.

Diaz Coronado RY, Mynarek M, Koelsche C, Mora Alferez P, Casavilca Zambrano S, Wachtel Aptowitzer A et al (2022) Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric peruvian patients. Cancer 128:697–707CrossRef

57.

Kamihara J, Paulson V, Breen MA, Laetsch TW, Rakheja D, Shulman DS et al (2020) DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. Mod Pathol Off J U S Can Acad Pathol Inc 33:1910–1921

58.

Koelsche C, Mynarek M, Schrimpf D, Bertero L, Serrano J, Sahm F et al (2018) Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol (Berl) 136:327–337CrossRef

59.

Lee JC, Villanueva-Meyer JE, Ferris SP, Sloan EA, Hofmann JW, Hattab EM et al (2019) Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. Acta Neuropathol (Berl) 137:521–525CrossRef

60.

Leelatian N, Goss J, Pastakia D, Dewan MC, Snuderl M, Mobley BC (2022) Primary intracranial sarcoma, DICER1-mutant presenting as a pineal region tumor mimicking pineoblastoma: case report and review of the literature. J Neuropathol Exp Neurol 81:762–764

61.

Nejo T, Takayanagi S, Tanaka S, Shinozaki-Ushiku A, Kohsaka S, Nagata K et al (2022) Primary intracranial spindle cell sarcoma, DICER1-Mutant, with MDM2 amplification diagnosed on the basis of extensive molecular profiling. Clin Med Insights Case Rep 15:11795476221131188CrossRef

62.

Sakaguchi M, Nakano Y, Honda-Kitahara M, Kinoshita M, Tanaka S, Oishi M et al (2019) 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 36:174–182CrossRef

63.

Yao K, Duan Z, Feng J, Yan C, Qi X (2022) DICER1-associated central nervous system sarcoma with neural lineage differentiation: a case report. Diagn Pathol 17:72CrossRef

64.

Schweizer L, Hartmann W, Koch A, Nunninger M, Thomale U-W, Pennacchietti V et al (2022) Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis. Neuropathol Appl Neurobiol 48:e12830CrossRef

65.

Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H et al (2015) Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 6:8891CrossRef

66.

Warren M, Hiemenz MC, Schmidt R, Shows J, Cotter J, Toll S et al (2020) Expanding the spectrum of dicer1-associated sarcomas. Mod Pathol Off J U S Can Acad Pathol Inc 33:164–174

67.

Bennett JA, Ordulu Z, Young RH, Pinto A, Van de Vijver K, Burandt E et al (2021) Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations. Mod Pathol Off J U S Can Acad Pathol Inc 34:1750–1762

68.

Dehner LP, Schultz KA, Hill DA (2022) Anaplastic sarcoma of kidney and DICER1. Pediatr Dev Pathol Off J Soc Pediatr Pathol Paediatr Pathol Soc 25:574CrossRef

69.

Schultz KAP, Nelson A, Harris AK, Finch M, Field A, Jarzembowski JA et al (2020) Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. Mod Pathol Off J U S Can Acad Pathol Inc 33:1922–1929

70.

Kommoss FKF, Stichel D, Mora J, Esteller M, Jones DTW, Pfister SM et al (2021) Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup. Mod Pathol Off J U S Can Acad Pathol Inc 34:1558–1569

71.

McCluggage WG, Foulkes WD (2021) DICER1-associated sarcomas: towards a unified nomenclature. Mod Pathol Off J U S Can Acad Pathol Inc 34:1226–1228

72.

Yang K, Wang J, Kanwar N, Villani A, Ajani O, Fleming A et al (2022) A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. Brain Tumor Pathol 39:225–231CrossRef

73.

Jour G, Serrano J, Koelsche C, Jones DTW, von Deimling A, Allen J et al (2019) Primary CNS alveolar Rhabdomyosarcoma: importance of epigenetic and transcriptomic assays for Accurate diagnosis. J Neuropathol Exp Neurol 78:1073–1075CrossRef

74.

Tanaka R, Inoue K, Yamada Y, Yoshida M, Shima H, Ito J et al (2021) A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review. J Neurooncol 154:247–256CrossRef

75.

Tauziède-Espariat A, Beccaria K, Pierron G, Guillemot D, Hasty L, Abbou S et al (2021) Pineal alveolar rhabdomyosarcoma with PAX3:NCOA2 fusion inducing OLIG2 expression, a potential pitfall in the central nervous system. Histopathology 79:437–439CrossRef

76.

Xie L, Wang W, Zhou H, Han Z, Xu J, Xu Z et al (2022) Adult primary pineal alveolar Rhabdomyosarcoma with FOXO1 gene rearrangement and OLIG2 expression: a rare case report and literature review. Int J Surg Pathol 30:769–775CrossRef

77.

Antonelli M, Raso A, Mascelli S, Gessi M, Nozza P, Coli A et al (2017) SMARCB1/INI1 involvement in pediatric chordoma: a mutational and immunohistochemical analysis. Am J Surg Pathol 41:56–61CrossRef

78.

Beccaria K, Tauziède-Espariat A, Monnien F, Adle-Biassette H, Masliah-Planchon J, Pierron G et al (2018) Pediatric chordomas: results of a multicentric study of 40 children and proposal for a histopathological prognostic grading system and new therapeutic strategies. J Neuropathol Exp Neurol 77:207–215CrossRef

79.

Buccoliero AM, Caporalini C, Scagnet M, Baroni G, Moscardi S, Mussa F et al (2019) Appl Immunohistochem Mol Morphol AIMM 27:147–154

80.

Cha YJ, Hong C-K, Kim D-S, Lee S-K, Park HJ, Kim SH (2017) Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: a report of two cases and review of the literature. Neuropathol Off J Jpn Soc Neuropathol 2:89

81.

Chavez JA, Din NU, Memon A, Perry A (2014) Anaplastic chordoma with loss of INI1 and brachyury expression in a 2-year-old girl. Clin Neuropathol 33:418–420CrossRef

82.

Gounder MM, Zhu G, Roshal L, Lis E, Daigle SR, Blakemore SJ et al (2019) Immunologic correlates of the abscopal effect in a SMARCB1/INI1-negative poorly differentiated chordoma after EZH2 inhibition and radiotherapy. Clin Cancer Res Off J Am Assoc Cancer Res 25:2064–2071CrossRef

83.

Hasselblatt M, Thomas C, Hovestadt V, Schrimpf D, Johann P, Bens S et al (2016) Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis. Acta Neuropathol (Berl) 132:149–151CrossRef

84.

Huang S-M, Chen C-C, Chiu P-C, Lai P-H, Ho J-T, Tseng H-H (2003) Unusual presentation of posterior mediastinal chordoma in a 2-year-old boy. J Pediatr Hematol Oncol 25:743–746CrossRef

85.

Jaber OI, Ashhab MA (2019) Metastatic poorly differentiated chordoma: the eyes do not see what the mind does not know. Autopsy Case Rep 9:e2019120CrossRef

86.

Miyahara H, Nodomi S, Umeda K, Itasaka S, Waki K, Imai T (2020) Chemoradiotherapy for unresectable INI1-negative chordoma in a child. J Pediatr Hematol Oncol 42:65–68CrossRef

87.

Mobley BC, McKenney JK, Bangs CD, Callahan K, Yeom KW, Schneppenheim R et al (2010) Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. Acta Neuropathol (Berl) 120:745–753CrossRef

88.

Owosho AA, Zhang L, Rosenblum MK, Antonescu CR (2018) High sensitivity of FISH analysis in detecting homozygous SMARCB1 deletions in poorly differentiated chordoma: a clinicopathologic and molecular study of nine cases. Genes Chromosomes Cancer 57:89–95CrossRef

89.

Rekhi B, Michal M, Ergen FB, Roy P, Puls F, Haugland HK et al (2021) Poorly differentiated chordoma showing loss of SMARCB1/INI1: clinicopathological and radiological spectrum of nine cases, including uncommon features of a relatively under-recognized entity. Ann Diagn Pathol 55:151809CrossRef

90.

Renard C, Pissaloux D, Decouvelaere AV, Bourdeaut F, Ranchère D (2014) Non-rhabdoid pediatric SMARCB1-deficient tumors: overlap between chordomas and malignant rhabdoid tumors? Cancer Genet 207:384–389CrossRef

91.

Shih AR, Chebib I, Deshpande V, Dickson BC, Iafrate AJ, Nielsen GP (2019) Molecular characteristics of poorly differentiated chordoma. Genes Chromosomes Cancer 58:804–808CrossRef

92.

Tsitouras V, Wang S, Dirks P, Drake J, Bouffet E, Hawkins C et al (2016) Management and outcome of chordomas in the pediatric population: the hospital for Sick Children experience and review of the literature. J Clin Neurosci Off J Neurosurg Soc Australas 34:169–176

93.

Yadav R, Sharma MC, Malgulwar PB, Pathak P, Sigamani E, Suri V et al (2014) Prognostic value of MIB-1, p53, epidermal growth factor receptor, and INI1 in childhood chordomas. Neuro-Oncol 16:372–381CrossRef

94.

Hasselblatt M, Thomas C, Federico A, Bens S, Hellström M, Casar-Borota O et al (2022) Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: a clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC. Neuropathol Appl Neurobiol 48:e12797CrossRef

95.

Kallen ME, Hornick JL (2021) The 2020 WHO classification: what’s new in soft tissue tumor pathology? Am J Surg Pathol 45:e1-23CrossRef

96.

Tauziède-Espariat A, Pierre T, Wassef M, Castel D, Riant F, Grill J et al (2022) The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile. Acta Neuropathol Commun 10:81CrossRef

97.

Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D et al (2022) Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. Angiogenesis 5:796

98.

Ugwu N, Atzmony L, Ellis KT, Panse G, Jain D, Ko CJ et al (2021) Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation. HGG Adv 2:871

99.

Gong H, Gao K, Mao P, Ma S, Zhao D, Bian Y et al (2022) A rare case of spindle cell neoplasm with NTRK-fusion in central nervous system. Pathol Int 5:61

100.

Kang J, Park JW, Won J-K, Bae JM, Koh J, Yim J et al (2020) Clinicopathological findings of pediatric NTRK fusion mesenchymal tumors. Diagn Pathol 15:114CrossRef

101.

Tauziède-Espariat A, Duchesne M, Baud J, Le Quang M, Bochaton D, Azmani R et al (2022) NTRK-rearranged spindle cell neoplasms are ubiquitous tumors of myofibroblastic lineage with a distinct methylation class. Histopathology 9:73

Title: Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities
Authors: Arnault Tauziède-Espariat
Lauren Hasty
Alice Métais
Pascale Varlet
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Sarcoma
Rhabdomyosarcoma
Published in: Acta Neuropathologica Communications / Issue 1/2023
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/s40478-023-01522-z

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Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities

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