Embryonal and pineal tumours.

cytology embryonal medulloblastoma pineal

Journal

Cytopathology : official journal of the British Society for Clinical Cytology
ISSN: 1365-2303
Titre abrégé: Cytopathology
Pays: England
ID NLM: 9010345

Informations de publication

Date de publication:
15 Dec 2023
Historique:
revised: 29 11 2023
received: 02 11 2023
accepted: 07 12 2023
medline: 15 12 2023
pubmed: 15 12 2023
entrez: 15 12 2023
Statut: aheadofprint

Résumé

Embryonal and pineal tumours represent a diverse group of central nervous system (CNS) neoplasms. While many of the small round blue cell tumours that make up the embryonal neoplasms share similar histologic qualities, there are several morphologic and cytologic characteristics that are useful in distinguishing different tumour types. Similarly, pineal parenchymal tumours represent clinically diverse tumours, ranging from benign to overtly malignant. The most recent iteration of the World Health Organization Classification of CNS Tumours expanded greatly on the significance of molecular alterations in brain tumour diagnostics. In this article, we summarize the salient cytologic and histologic features of CNS embryonal and pineal tumours, and highlight diagnostically relevant molecular alterations within each tumour type.

Identifiants

pubmed: 38100134
doi: 10.1111/cyt.13350
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2023 The Authors. Cytopathology published by John Wiley & Sons Ltd.

Références

Sturm D, Orr BA, Toprak UH, et al. New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell. 2016;164(5):1060-1072. doi:10.1016/j.cell.2016.01.015
von Hoff K, Haberler C, Schmitt-Hoffner F, et al. Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study. Neuro Oncol. 2021;23(9):1597-1611. doi:10.1093/neuonc/noab136
Liu APY, Dhanda SK, Lin T, et al. Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Children's Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials. Acta Neuropathol. 2022;144(4):733-746. doi:10.1007/s00401-022-02484-7
Kumar R, Liu APY, Orr BA, Northcott PA, Robinson GW. Advances in the classification of pediatric brain tumors through DNA methylation profiling: from research tool to frontline diagnostic. Cancer. 2018;124(21):4168-4180. doi:10.1002/cncr.31583
Łastowska M, Trubicka J, Sobocińska A, et al. 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. 2020;8(1):105. doi:10.1186/s40478-020-00984-9
Lebrun L, Allard-Demoustiez S, Gilis N, et al. Clinicopathological and molecular characterization of a case classified by DNA-methylation profiling as “CNS embryonal tumor with BRD4-LEUTX fusion”. Acta Neuropathol Commun. 2023;11(1):46-47. doi:10.1186/s40478-023-01549-2
Tauziède-Espariat A, Uro-Coste E, Sievers P, et al. CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population. Acta Neuropathol Commun. 2023;11(1):26. doi:10.1186/s40478-023-01523-y
Wechsler-Reya RJ, Scott MP. Control of neuronal precursor proliferation in the cerebellum by sonic hedgehog. Neuron. 1999;22(1):103-114. doi:10.1016/s0896-6273(00)80682-0
Schüller U, Heine VM, Mao J, et al. Acquisition of granule neuron precursor identity is a critical determinant of progenitor cell competence to form shh-induced medulloblastoma. Cancer Cell. 2008;14(2):123-134. doi:10.1016/j.ccr.2008.07.005
Hovestadt V, Ayrault O, Swartling FJ, Robinson GW, Pfister SM, Northcott PA. Medulloblastomics revisited: biological and clinical insights from thousands of patients. Nat Rev Cancer. 2020;20(1):42-56. doi:10.1038/s41568-019-0223-8
Vladoiu MC, El-Hamamy I, Donovan LK, et al. Childhood cerebellar tumours mirror conserved fetal transcriptional programs. Nature. 2019;572(7767):67-73. doi:10.1038/s41586-019-1158-7
Ostrom QT, Cioffi G, Gittleman H, et al. CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2012-2016. Neuro Oncol. 2019;21(Supplement_5):v1-v100. doi:10.1093/neuonc/noz150
Eberhart CG, Kepner JL, Goldthwaite PT, et al. Histopathologic grading of medulloblastomas. Cancer. 2002;94(2):552-560. doi:10.1002/cncr.10189
Eberhart CG, Kratz J, Wang Y, et al. Histopathological and molecular prognostic markers in medulloblastomac-myc, N-myc, TrkC, and anaplasia. J Neuropathol Exp Neurol. 2004;63(5):441-449. doi:10.1093/jnen/63.5.441
Kool M, Korshunov A, Remke M, et al. Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, group 3, and group 4 medulloblastomas. Acta Neuropathol. 2012;123(4):473-484. doi:10.1007/s00401-012-0958-8
Korshunov A, Remke M, Werft W, et al. Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification. J Clin Oncol. 2010;28(18):3054-3060. doi:10.1200/jco.2009.25.7121
Giangaspero F, Perilongo G, Fondelli MP, et al. Medulloblastoma with extensive nodularity: a variant with favorable prognosis. J Neurosurg. 1999;91(6):971-977. doi:10.3171/jns.1999.91.6.0971
Korshunov A, Sahm F, Okonechnikov K, et al. Desmoplastic/nodular medulloblastomas (DNMB) and medulloblastomas with extensive nodularity (MBEN) disclose similar epigenetic signatures but different transcriptional profiles. Acta Neuropathol. 2019;137(6):1003-1015. doi:10.1007/s00401-019-01981-6
Ramaswamy V, Remke M, Bouffet E, et al. Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis. Lancet Oncol. 2013;14(12):1200-1207. doi:10.1016/s1470-2045(13)70449-2
Ellison DW, Kocak M, Dalton J, et al. Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol. 2010;29(11):1400-1407. doi:10.1200/jco.2010.30.2810
Taylor MD, Northcott PA, Korshunov A, et al. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol. 2012;123(4):465-472. doi:10.1007/s00401-011-0922-z
Northcott PA, Jones DTW, Kool M, et al. Medulloblastomics: the end of the beginning. Nat Rev Cancer. 2012;12(12):818-834. doi:10.1038/nrc3410
Pugh TJ, Weeraratne SD, Archer TC, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature. 2012;488(7409):106-110. doi:10.1038/nature11329
Ellison DW, Onilude OE, Lindsey JC, et al. β-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee. J Clin Oncol. 2005;23(31):7951-7957. doi:10.1200/jco.2005.01.5479
Ellison DW, Dalton J, Kocak M, et al. Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol. 2011;121(3):381-396. doi:10.1007/s00401-011-0800-8
Kaur K, Kakkar A, Kumar A, et al. Medulloblastoma classification: simplified approach. Brain Pathol. 2016;26(3):334-343. doi:10.1111/bpa.12293
Chinnam D, Saraswati A, Jogunoori S, et al. Immunohistochemical surrogates for molecular stratification in medulloblastoma. Appl Immunohistochem Mol Morphol. 2023;31(8):561-568. doi:10.1097/pai.0000000000001143
Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. doi:10.1016/s1470-2045(18)30242-0
Ramaswamy V, Nör C, Taylor MD. p53 and Meduloblastoma. Cold Spring Harb Perspect Med. 2016;6(2):a026278. doi:10.1101/cshperspect.a026278
Kool M, Jones DTW, Jäger N, et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell. 2014;25(3):393-405. doi:10.1016/j.ccr.2014.02.004
Korshunov A, Remke M, Kool M, et al. Biological and clinical heterogeneity of MYCN-amplified medulloblastoma. Acta Neuropathol. 2012;123(4):515-527. doi:10.1007/s00401-011-0918-8
Zhukova N, Ramaswamy V, Remke M, et al. Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. J Clin Oncol. 2013;31(23):2927-2935. doi:10.1200/jco.2012.48.5052
Cavalli FMG, Remke M, Rampasek L, et al. Intertumoral heterogeneity within medulloblastoma subgroups. Cancer Cell. 2017;31(6):737-754.e6. doi:10.1016/j.ccell.2017.05.005
Gupta K, Jogunoori S, Satapathy A, et al. Medulloblastoma with myogenic and/or melanotic differentiation does not align immunohistochemically with the genetically defined molecular subgroups. Hum Pathol. 2018;75:26-33. doi:10.1016/j.humpath.2018.01.014
Sharma T, Schwalbe EC, Williamson D, et al. Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of group 3 and group 4 subtypes. Acta Neuropathol. 2019;138(2):309-326. doi:10.1007/s00401-019-02020-0
Fossey M, Li H, Afzal S, et al. Atypical teratoid rhabdoid tumor in the first year of life: the Canadian ATRT registry experience and review of the literature. J Neurooncol. 2017;132(1):155-162. doi:10.1007/s11060-016-2353-0
Ostrom QT, Chen Y, de Blank PM, et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010. Neuro Oncol. 2014;16(10):1392-1399. doi:10.1093/neuonc/nou090
Haberler C, Laggner U, Slavc I, et al. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol. 2006;30(11):1462-1468. doi:10.1097/01.pas.0000213329.71745.ef
Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996;85(1):56-65. doi:10.3171/jns.1996.85.1.0056
Zin F, Cotter JA, Haberler C, et al. Histopathological patterns in atypical teratoid/rhabdoid tumors are related to molecular subgroup. Brain Pathol. 2021;31(5):e12967. doi:10.1111/bpa.12967
Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28(5):644-650. doi:10.1097/00000478-200405000-00013
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59(1):74-79.
Hasselblatt M, Thomas C, Hovestadt V, et al. Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis. Acta Neuropathol. 2016;132(1):149-151. doi:10.1007/s00401-016-1574-9
Hulsebos TJM, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80(4):805-810. doi:10.1086/513207
Hasselblatt M, Gesk S, Oyen F, et al. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol. 2011;35(6):933-935. doi:10.1097/pas.0b013e3182196a39
Bookhout C, Bouldin TW, Ellison DW. Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4). Neuropathology. 2018;38(3):305-308. doi:10.1111/neup.12452
Holdhof D, Johann PD, Spohn M, et al. Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases. Acta Neuropathol. 2021;141(2):291-301. doi:10.1007/s00401-020-02250-7
Johann PD, Erkek S, Zapatka M, et al. Atypical teratoid/rhabdoid tumors are comprised of three epigenetic subgroups with distinct enhancer landscapes. Cancer Cell. 2016;29(3):379-393. doi:10.1016/j.ccell.2016.02.001
Reddy AT, Strother DR, Judkins AR, et al. Efficacy of high-dose chemotherapy and three-dimensional conformal radiation for atypical teratoid/rhabdoid tumor: a report from the Children's Oncology Group Trial ACNS0333. J Clin Oncol. 2020;38(11):1175-1185. doi:10.1200/jco.19.01776
Chi SN, Zimmerman MA, Yao X, et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2008;27(3):385-389. doi:10.1200/jco.2008.18.7724
Frühwald MC, Hasselblatt M, Nemes K, et al. Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors (ATRT). Neuro Oncol. 2019;22(7):1006-1017. doi:10.1093/neuonc/noz244
Hasselblatt M, Oyen F, Gesk S, et al. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol. 2009;68(12):1249-1255. doi:10.1097/nen.0b013e3181c06a51
Johann PD, Hovestadt V, Thomas C, et al. Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. Brain Pathol. 2017;27(4):411-418. doi:10.1111/bpa.12413
Kleinman CL, Gerges N, Papillon-Cavanagh S, et al. Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR. Nat Genet. 2014;46(1):39-44. doi:10.1038/ng.2849
Lambo S, Gröbner SN, Rausch T, et al. The molecular landscape of ETMR at diagnosis and relapse. Nature. 2019;576(7786):274-280. doi:10.1038/s41586-019-1815-x
Korshunov A, Sturm D, Ryzhova M, et al. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. Acta Neuropathol. 2014;128(2):279-289. doi:10.1007/s00401-013-1228-0
Lambo S, von Hoff K, Korshunov A, Pfister SM, Kool M. ETMR: a tumor entity in its infancy. Acta Neuropathol. 2020;140(3):249-266. doi:10.1007/s00401-020-02182-2
Xu K, Sun Z, Wang L, Guan W. Embryonal tumors with multilayered rosettes, C19MC-altered or not elsewhere classified: clinicopathological characteristics, prognostic factors, and outcomes of 17 children from 2018 to 2022. Front Oncol. 2022;12:1001959. doi:10.3389/fonc.2022.1001959
Spence T, Sin-Chan P, Picard D, et al. CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. Acta Neuropathol. 2014;128(2):291-303. doi:10.1007/s00401-014-1291-1
Nambirajan A, Gurung N, Suri V, et al. C19MC amplification and expression of Lin28A and Olig2 in the classification of embryonal tumors of the central nervous system: a 14-year retrospective study from a tertiary care center. Childs Nerv Syst. 2021;37(4):1067-1075. doi:10.1007/s00381-020-04973-0
Eberhart CG, Brat DJ, Cohen KJ, Burger PC. Pediatric neuroblastic brain tumors containing abundant neuropil and true rosettes. Pediatr Dev Pathol. 2000;3(4):346-352. doi:10.1007/s100249910049
Gessi M, Giangaspero F, Lauriola L, et al. Embryonal tumors with abundant neuropil and true rosettes. Am J Surg Pathol. 2009;33(2):211-217. doi:10.1097/pas.0b013e318186235b
Judkins AR, Ellison DW. Ependymoblastoma: dear, damned, distracting diagnosis, farewell! Brain Pathol. 2010;20(1):133-139. doi:10.1111/j.1750-3639.2008.00253.x
Molloy PT, Yachnis AT, Rorke LB, et al. Central nervous system medulloepithelioma: a series of eight cases including two arising in the pons. J Neurosurg. 1996;84(3):430-436. doi:10.3171/jns.1996.84.3.0430
Holsten T, Lubieniecki F, Spohn M, et al. Detailed clinical and histopathological description of 8 cases of molecularly defined CNS neuroblastomas. J Neuropathol Exp Neurol. 2020;80(1):52-59. doi:10.1093/jnen/nlaa128
Tauziède-Espariat A, Figarella-Branger D, Métais A, et al. CNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm. Acta Neuropathol Commun. 2023;11(1):43. doi:10.1186/s40478-023-01536-7
Hwang EI, Kool M, Burger PC, et al. Extensive molecular and clinical heterogeneity in patients with histologically diagnosed CNS-PNET treated as a single entity: a report from the Children's Oncology Group Randomized ACNS0332 Trial. J Clin Oncol. 2018;36(34):3388-3395. doi:10.1200/jco.2017.76.4720
Shimazaki K, Kurokawa R, Franson A, et al. Neuroimaging features of FOXR2-activated CNS neuroblastoma: a case series and systematic review. J Neuroimaging. 2023;33(3):359-367. doi:10.1111/jon.13095
Ferris SP, Vega JV, Aboian M, 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
Kao YC, Sung YS, Zhang L, et al. Recurrent BCOR internal tandem duplication and YWHAE-NUTM2B fusions in soft tissue undifferentiated round cell sarcoma of infancy. Am J Surg Pathol. 2016;40(8):1009-1020. doi:10.1097/pas.0000000000000629
Santiago T, Clay MR, Allen SJ, Orr BA. 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):884-891. doi:10.1038/modpathol.2017.12
Yoshida Y, Nobusawa S, Nakata S, 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;28(5):710-720. doi:10.1111/bpa.12585
Capper D, Jones DTW, Sill M, et al. DNA methylation-based classification of central nervous system tumours. Nature. 2018;555(7697):469-474. doi:10.1038/nature26000
Louis DN, Wesseling P, 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(4):844-856. doi:10.1111/bpa.12832
Ito J, Nakano Y, Shima H, et al. Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion. Brain Tumor Pathol. 2020;37(3):105-110. doi:10.1007/s10014-020-00371-1
Roosen M, Odé Z, Bunt J, Kool M. The oncogenic fusion landscape in pediatric CNS neoplasms. Acta Neuropathol. 2022;143(4):427-451. doi:10.1007/s00401-022-02405-8
Hu W, Wang J, Yuan L, et al. 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. 2020;10:598970. doi:10.3389/fonc.2020.598970
Gheban BA, Rosca IA, Crisan M. The morphological and functional characteristics of the pineal gland. Med Pharm Rep. 2019;92(3):226-234. doi:10.15386/mpr-1235
Favero G, Bonomini F, Rezzani R. Pineal gland tumors: a review. Cancers. 2021;13(7):1547. doi:10.3390/cancers13071547
Murro D, Alsadi A, Nag S, Arvanitis L, Gattuso P. Cytologic features of the normal pineal gland on squash preparations. Diagn Cytopathol. 2014;42(11):939-943. doi:10.1002/dc.23156
Jiménez-Heffernan JA, Bárcena C, Agra C, Asunción A. Cytologic features of the normal pineal gland of adults. Diagn Cytopathol. 2015;43(8):642-645. doi:10.1002/dc.23282
Fèvre-Montange M, Szathmari A, Champier J, et al. Pineocytoma and pineal parenchymal tumors of intermediate differentiation presenting cytologic pleomorphism: a multicenter study. Brain Pathol. 2008;18(3):354-359. doi:10.1111/j.1750-3639.2008.00128.x
Pfaff E, Aichmüller C, Sill M, et al. Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. Acta Neuropathol. 2020;139(2):243-257. doi:10.1007/s00401-019-02101-0
Jouvet A, Saint-Pierre G, Fauchon F, et al. Pineal parenchymal tumors: a correlation of histological features with prognosis in 66 cases. Brain Pathol. 2000;10(1):49-60. doi:10.1111/j.1750-3639.2000.tb00242.x
Clark AJ, Sughrue ME, Ivan ME, et al. Factors influencing overall survival rates for patients with pineocytoma. J Neurooncol. 2010;100(2):255-260. doi:10.1007/s11060-010-0189-6
Yamashita S, Takeshima H, Hata N, et al. Clinicopathologic analysis of pineal parenchymal tumors of intermediate differentiation: a multi-institutional cohort study by the Kyushu Neuro-Oncology Study Group. J Neurooncol. 2023;162(2):425-433. doi:10.1007/s11060-023-04310-w
Lee JC, Mazor T, Lao R, et al. Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol. 2019;137(5):851-854. doi:10.1007/s00401-019-01990-5
Mallick S, Benson R, Rath GK. Patterns of care and survival outcomes in patients with pineal parenchymal tumor of intermediate differentiation: an individual patient data analysis. Radiother Oncol. 2016;121(2):204-208. doi:10.1016/j.radonc.2016.10.025
Fèvre-Montange M, Vasiljevic A, Frappaz D, et al. Utility of Ki67 immunostaining in the grading of pineal parenchymal tumours: a multicentre study. Neuropathol Appl Neurobiol. 2012;38(1):87-94. doi:10.1111/j.1365-2990.2011.01202.x
de Kock L, Priest JR, Foulkes WD, Alexandrescu S. An update on the central nervous system manifestations of DICER1 syndrome. Acta Neuropathol. 2020;139(4):689-701. doi:10.1007/s00401-019-01997-y
Liu APY, Li BK, Pfaff E, et al. Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study. Acta Neuropathol. 2021;141(5):771-785. doi:10.1007/s00401-021-02284-5
Liu APY, Gudenas B, Lin T, et al. Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials. Acta Neuropathol. 2020;139(2):259-271. doi:10.1007/s00401-019-02106-9
Li BK, Vasiljevic A, Dufour C, et al. Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol. 2020;139(2):223-241. doi:10.1007/s00401-019-02111-y
Berns S, Pearl G. Review of pineal anlage tumor with divergent histology. Arch Pathol Lab Med. 2006;130(8):1233-1235. doi:10.5858/2006-130-1233-ropatw
Lopez-Nunez O, Alaggio R, John I, et al. Melanotic neuroectodermal tumor of infancy (MNTI) and pineal anlage tumor (PAT) harbor a medulloblastoma signature by DNA methylation profiling. Cancer. 2021;13(4):706. doi:10.3390/cancers13040706
Jouvet A, Fauchon F, Liberski P, et al. Papillary tumor of the pineal region. Am J Surg Pathol. 2003;27(4):505-512. doi:10.1097/00000478-200304000-00011
Fèvre-Montange M, Hasselblatt M, Figarella-Branger D, et al. Prognosis and histopathologic features in papillary tumors of the pineal region: a retrospective multicenter study of 31 cases. J Neuropathol Exp Neurol. 2006;65(10):1004-1011. doi:10.1097/01.jnen.0000240462.80263.13
Jiménez-Heffernan JA, Bárcena C, Gordillo C, Cañizal JM. Cytologic features of papillary tumor of the pineal region: a case report showing tigroid background. Diagn Cytopathol. 2016;44(12):1098-1101. doi:10.1002/dc.23560
Hasselblatt M, Blümcke I, Jeibmann A, et al. Immunohistochemical profile and chromosomal imbalances in papillary tumours of the pineal region. Neuropathol Appl Neurobiol. 2006;32(3):278-283. doi:10.1111/j.1365-2990.2006.00723.x
Heim S, Sill M, Jones DTW, et al. Molecular biology of PTPR. Brain Pathol. 2016;26(2):199-205. doi:10.1111/bpa.12282
Heim S, Beschorner R, Mittelbronn M, et al. Increased mitotic and proliferative activity are associated with worse prognosis in papillary tumors of the pineal region. Am J Surg Pathol. 2014;38(1):106-110. doi:10.1097/pas.0b013e31829e492d
Thomas C, Wefers A, Bens S, et al. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults. Acta Neuropathol. 2020;139(2):277-286. doi:10.1007/s00401-019-02094-w
Manoranjan B, Starreveld YP, Nordal RA, et al. Desmoplastic myxoid tumor of pineal region, SMARCB1-mutant, in young adult. Free Neuropathol. 2021;2:2. doi:10.17879/freeneuropathology-2021-3340
Wang Y, Chen J, Wang W, Zhang A, Zhou W, Wu H. A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region. Neuropathology. 2021;41(1):37-41. doi:10.1111/neup.12695
Matsumura N, Goda N, Yashige K, et al. Desmoplastic myxoid tumor, SMARCB1-mutant: a new variant of SMARCB1-deficient tumor of the central nervous system preferentially arising in the pineal region. Virchows Arch. 2021;479(4):835-839. doi:10.1007/s00428-020-02978-3

Auteurs

Joseph Reznicek (J)

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Nima Sharifai (N)

Department of Pathology, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Pouya Jamshidi (P)

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Nitin Wadhwani (N)

Department of Pathology, Lurie Children's Hospital, Chicago, Illinois, USA.

Jared T Ahrendsen (JT)

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Classifications MeSH