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Articles published in Acta Neuropathol

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Single Articles

    March 2023
  1. BOGUMIL H, Sill M, Schrimpf D, Ismer B, et al
    Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions.
    Acta Neuropathol. 2023 Mar 18. doi: 10.1007/s00401-023-02558.
    PubMed     Abstract available

  2. JAMSHIDI P, McCord M, Galbraith K, Santana-Santos L, et al
    Variant allelic frequency of driver mutations predicts success of genomic DNA methylation classification in central nervous system tumors.
    Acta Neuropathol. 2023;145:365-367.

    February 2023
  3. KHAN AB, English CW, Chen WC, Athukuri P, et al
    Even heterozygous loss of CDKN2A/B greatly accelerates recurrence in aggressive meningioma.
    Acta Neuropathol. 2023 Feb 2. doi: 10.1007/s00401-023-02543.

  4. TANG V, Lu R, Mirchia K, Van Ziffle J, et al
    Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas.
    Acta Neuropathol. 2023 Feb 1. doi: 10.1007/s00401-023-02544.

    January 2023
  5. KECK MK, Sill M, Wittmann A, Joshi P, et al
    Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
    Acta Neuropathol. 2023;145:49-69.
    PubMed     Abstract available

  6. CIMINO PJ, Ketchum C, Turakulov R, Singh O, et al
    Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.
    Acta Neuropathol. 2023;145:71-82.
    PubMed     Abstract available

  7. METAIS A, Bouchoucha Y, Kergrohen T, Dangouloff-Ros V, et al
    Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours.
    Acta Neuropathol. 2023;145:83-95.
    PubMed     Abstract available

    December 2022
  8. EBRAHIMI A, Herrlinger U, Waha A, Kaluza L, et al
    Methylation class oligosarcoma may encompass IDH-wildtype gliomas.
    Acta Neuropathol. 2022 Dec 15. doi: 10.1007/s00401-022-02529.

  9. MYNAREK M, Obrecht D, Sill M, Sturm D, et al
    Identification of low and very high-risk patients with non-WNT/non-SHH medulloblastoma by improved clinico-molecular stratification of the HIT2000 and I-HIT-MED cohorts.
    Acta Neuropathol. 2022 Dec 2. doi: 10.1007/s00401-022-02522.
    PubMed     Abstract available

  10. CHIANG J, Moreira DC, Li X, Furtado LV, et al
    Prognostic significance of chromosome arm 1q gain and methylation class in molecularly defined diffuse leptomeningeal glioneuronal tumor.
    Acta Neuropathol. 2022;144:1185-1187.

  11. TAUZIEDE-ESPARIAT A, Volodia-Dangouloff-Ros, Figarella-Branger D, Uro-Coste E, et al
    Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as "Glioneuronal Tumors, NOS, Subtype A".
    Acta Neuropathol. 2022;144:1179-1183.

    November 2022
    Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas: "it's a numbers game"-implications for WNT medulloblastoma dose-reduction clinical trials.
    Acta Neuropathol. 2022 Nov 20. doi: 10.1007/s00401-022-02518.

    October 2022
  13. WU Z, Rajan S, Chung HJ, Raffeld M, et al
    Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.
    Acta Neuropathol. 2022 Oct 6. pii: 10.1007/s00401-022-02508.

  14. LIU APY, Dhanda SK, Lin T, Sioson E, 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;144:733-746.
    PubMed     Abstract available

  15. MESSIAEN J, Claeys A, Shetty A, Spans L, et al
    Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.
    Acta Neuropathol. 2022;144:793-797.

  16. GOSCHZIK T, Mynarek M, Doerner E, Schenk A, et al
    Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
    Acta Neuropathol. 2022 Oct 1. pii: 10.1007/s00401-022-02505.
    PubMed     Abstract available

    September 2022
  17. TATARI N, Khan S, Livingstone J, Zhai K, et al
    The proteomic landscape of glioblastoma recurrence reveals novel and targetable immunoregulatory drivers.
    Acta Neuropathol. 2022 Sep 30. pii: 10.1007/s00401-022-02506.
    PubMed     Abstract available

  18. RICKLEFS FL, Fita KD, Mohme M, Mawrin C, et al
    Genetic and epigenetic profiling identifies two distinct classes of spinal meningiomas.
    Acta Neuropathol. 2022 Sep 27. pii: 10.1007/s00401-022-02504.

  19. SIDDAWAY R, Canty L, Pajovic S, Milos S, et al
    Oncohistone interactome profiling uncovers contrasting oncogenic mechanisms and identifies potential therapeutic targets in high grade glioma.
    Acta Neuropathol. 2022 Sep 7. pii: 10.1007/s00401-022-02489.
    PubMed     Abstract available

    August 2022
  20. DOGAN H, Blume C, Patel A, Jungwirth G, et al
    Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas.
    Acta Neuropathol. 2022 Aug 19. pii: 10.1007/s00401-022-02485.

  21. LUCAS CG, Sloan EA, Gupta R, Wu J, et al
    Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
    Acta Neuropathol. 2022 Aug 9. pii: 10.1007/s00401-022-02478.
    PubMed     Abstract available

  22. HUA L, Alkhatib M, Podlesek D, Gunther L, et al
    Two predominant molecular subtypes of spinal meningioma: thoracic NF2-mutant tumors strongly associated with female sex, and cervical AKT1-mutant tumors originating ventral to the spinal cord.
    Acta Neuropathol. 2022 Aug 9. pii: 10.1007/s00401-022-02474.

  23. PRATT D, Lucas CG, Selvam PP, Abdullaev Z, et al
    Recurrent ACVR1 mutations in posterior fossa ependymoma.
    Acta Neuropathol. 2022;144:373-376.

    July 2022
  24. DANILENKO M, Zaka M, Keeling C, Crosier S, et al
    Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development.
    Acta Neuropathol. 2022 Jul 13. pii: 10.1007/s00401-022-02464.
    PubMed     Abstract available

    June 2022
  25. KORSHUNOV A, Okonechnikov K, Stichel D, Schrimpf D, et al
    Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression.
    Acta Neuropathol. 2022 Jun 30. pii: 10.1007/s00401-022-02460.
    PubMed     Abstract available

  26. VASUDEVAN HN, Choudhury A, Hilz S, Villanueva-Meyer JE, et al
    Intratumor and informatic heterogeneity influence meningioma molecular classification.
    Acta Neuropathol. 2022 Jun 27. pii: 10.1007/s00401-022-02455.

  27. ADEBERG S, Knoll M, Koelsche C, Bernhardt D, et al
    DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma.
    Acta Neuropathol. 2022 Jun 4. pii: 10.1007/s00401-022-02443.
    PubMed     Abstract available

  28. FEDERICO A, Thomas C, Miskiewicz K, Woltering N, et al
    ATRT-SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance.
    Acta Neuropathol. 2022;143:697-711.
    PubMed     Abstract available

    May 2022
  29. WU Z, Lopes Abath Neto O, Bale TA, Benhamida J, et al
    DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival.
    Acta Neuropathol. 2022 May 14. pii: 10.1007/s00401-022-02430.

  30. PATEL A, Dogan H, Payne A, Krause E, et al
    Rapid-CNS(2): rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study.
    Acta Neuropathol. 2022;143:609-612.

    April 2022
  31. FLASCH DA, Chen X, Ju B, Li X, et al
    Somatic LINE-1 promoter acquisition drives oncogenic FOXR2 activation in pediatric brain tumor.
    Acta Neuropathol. 2022 Apr 11. pii: 10.1007/s00401-022-02420.

  32. ROOSEN M, Ode Z, Bunt J, Kool M, et al
    The oncogenic fusion landscape in pediatric CNS neoplasms.
    Acta Neuropathol. 2022;143:427-451.
    PubMed     Abstract available

    March 2022
  33. LIU AP, Li KK, Chow C, Chan S, et al
    Expanding the clinical and molecular spectrum of pituitary blastoma.
    Acta Neuropathol. 2022;143:415-417.

    February 2022
  34. TAUZIEDE-ESPARIAT A, Guerrini-Rousseau L, Perrier A, Torrejon J, et al
    Immunohistochemistry as a tool to identify ELP1-associated medulloblastoma.
    Acta Neuropathol. 2022 Feb 23. pii: 10.1007/s00401-022-02409.

  35. PRATT D, Abdullaev Z, Papanicolau-Sengos A, Ketchum C, et al
    High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
    Acta Neuropathol. 2022 Feb 1. pii: 10.1007/s00401-022-02404.
    PubMed     Abstract available

  36. SUWALA AK, Felix M, Friedel D, Stichel D, et al
    Oligosarcomas, IDH-mutant are distinct and aggressive.
    Acta Neuropathol. 2022;143:263-281.
    PubMed     Abstract available

    January 2022
  37. MARKWELL SM, Ross JL, Olson CL, Brat DJ, et al
    Necrotic reshaping of the glioma microenvironment drives disease progression.
    Acta Neuropathol. 2022 Jan 17. pii: 10.1007/s00401-021-02401.
    PubMed     Abstract available

  38. LUCAS CG, Gupta R, Wu J, Shah K, et al
    EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma.
    Acta Neuropathol. 2022;143:109-113.

  39. JENSEIT A, Camgoz A, Pfister SM, Kool M, et al
    EZHIP: a new piece of the puzzle towards understanding pediatric posterior fossa ependymoma.
    Acta Neuropathol. 2022;143:1-13.
    PubMed     Abstract available

    December 2021
  40. LUCAS CG, Abdullaev Z, Bruggers CS, Mirchia K, et al
    Activating NTRK2 and ALK receptor tyrosine kinase fusions extend the molecular spectrum of pleomorphic xanthoastrocytomas of early childhood: a diagnostic overlap with infant-type hemispheric glioma.
    Acta Neuropathol. 2021 Dec 15. pii: 10.1007/s00401-021-02396.

  41. CHONG AS, Han H, Albrecht S, Weon YC, et al
    DICER1 syndrome in a young adult with pituitary blastoma.
    Acta Neuropathol. 2021;142:1071-1076.

  42. SCHMID S, Solomon DA, Perez E, Thieme A, et al
    Genetic and epigenetic characterization of posterior pituitary tumors.
    Acta Neuropathol. 2021;142:1025-1043.
    PubMed     Abstract available

    November 2021
  43. ALHALABI KT, Stichel D, Sievers P, Peterziel H, et al
    PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.
    Acta Neuropathol. 2021;142:841-857.
    PubMed     Abstract available

  44. SIEVERS P, Henneken SC, Blume C, Sill M, et al
    Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors.
    Acta Neuropathol. 2021;142:827-839.
    PubMed     Abstract available

    September 2021
  45. SIEVERS P, Stichel D, Sill M, Schrimpf D, et al
    GOPC:ROS1 and other ROS1 fusions represent a rare but recurrent drug target in a variety of glioma types.
    Acta Neuropathol. 2021 Sep 18. pii: 10.1007/s00401-021-02369.

  46. KIRCHES E, Sahm F, Korshunov A, Bluecher C, et al
    Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas.
    Acta Neuropathol. 2021 Sep 8. pii: 10.1007/s00401-021-02351.
    PubMed     Abstract available

  47. GUPTA R, Lucas CG, Wu J, Barreto J, et al
    Low-grade glioneuronal tumors with FGFR2 fusion resolve into a single epigenetic group corresponding to 'Polymorphous low-grade neuroepithelial tumor of the young'.
    Acta Neuropathol. 2021;142:595-599.

    August 2021
  48. COLTIN H, Sundaresan L, Smith KS, Skowron P, et al
    Subgroup and subtype-specific outcomes in adult medulloblastoma.
    Acta Neuropathol. 2021 Aug 18. pii: 10.1007/s00401-021-02358.
    PubMed     Abstract available

  49. LOTSCH D, Kirchhofer D, Englinger B, Jiang L, et al
    Targeting fibroblast growth factor receptors to combat aggressive ependymoma.
    Acta Neuropathol. 2021;142:339-360.
    PubMed     Abstract available

  50. PATHAK R, Zin F, Thomas C, Bens S, et al
    Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.
    Acta Neuropathol. 2021;142:361-374.
    PubMed     Abstract available

    July 2021
  51. NAZIO F, Po A, Abballe L, Ballabio C, et al
    Targeting cancer stem cells in medulloblastoma by inhibiting AMBRA1 dual function in autophagy and STAT3 signalling.
    Acta Neuropathol. 2021 Jul 24. pii: 10.1007/s00401-021-02347.
    PubMed     Abstract available

  52. SCHOOF M, Kordes U, Volk AE, Al-Kershi S, et al
    Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome.
    Acta Neuropathol. 2021 Jul 15. pii: 10.1007/s00401-021-02346.

    June 2021
  53. FUJIMOTO K, Arita H, Satomi K, Yamasaki K, et al
    TERT promoter mutation status is necessary and sufficient to diagnose IDH-wildtype diffuse astrocytic glioma with molecular features of glioblastoma.
    Acta Neuropathol. 2021 Jun 20. pii: 10.1007/s00401-021-02337.
    PubMed     Abstract available

  54. KRESBACH C, Dorostkar MM, Suwala AK, Wefers AK, et al
    Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype.
    Acta Neuropathol. 2021;141:971-974.

  55. THOMAS C, Thierfelder F, Trager M, Soschinski P, et al
    TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.
    Acta Neuropathol. 2021;141:959-970.
    PubMed     Abstract available

  56. TESILEANU CMS, Vallentgoed WR, Sanson M, Taal W, et al
    Non-IDH1-R132H IDH1/2 mutations are associated with increased DNA methylation and improved survival in astrocytomas, compared to IDH1-R132H mutations.
    Acta Neuropathol. 2021;141:945-957.
    PubMed     Abstract available

  57. NADAF J, de Kock L, Chong AS, Korbonits M, et al
    Molecular characterization of DICER1-mutated pituitary blastoma.
    Acta Neuropathol. 2021;141:929-944.
    PubMed     Abstract available

    May 2021
  58. JAUNMUKTANE Z, Banerjee G, Paine S, Parry-Jones A, et al
    Alzheimer's disease neuropathological change three decades after iatrogenic amyloid-beta transmission.
    Acta Neuropathol. 2021 May 28. pii: 10.1007/s00401-021-02326.

  59. LIU APY, Li BK, Pfaff E, Gudenas B, et al
    Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.
    Acta Neuropathol. 2021;141:771-785.
    PubMed     Abstract available

    April 2021
  60. FORSTER A, Brand F, Banan R, Huneburg R, et al
    Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
    Acta Neuropathol. 2021 Apr 30. pii: 10.1007/s00401-021-02307.
    PubMed     Abstract available

  61. SUWALA AK, Stichel D, Schrimpf D, Maas SLN, et al
    Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1.
    Acta Neuropathol. 2021 Apr 19. pii: 10.1007/s00401-021-02302.
    PubMed     Abstract available

  62. RICKERT D, Bartl J, Picard D, Bernardi F, et al
    Circular RNA profiling distinguishes medullobastoma groups and shows aberrant RMST overexpression in WNT medulloblastoma.
    Acta Neuropathol. 2021 Apr 17. pii: 10.1007/s00401-021-02306.

  63. PRATT D, Kumar-Sinha C, Cieslik M, Mehra R, et al
    A novel ATXN1-DUX4 fusion expands the spectrum of 'CIC-rearranged sarcoma' of the CNS to include non-CIC alterations.
    Acta Neuropathol. 2021;141:619-622.

    March 2021
  64. ZSCHERNACK V, Junger ST, Mynarek M, Rutkowski S, et al
    Supratentorial ependymoma in childhood: more than just RELA or YAP.
    Acta Neuropathol. 2021;141:455-466.
    PubMed     Abstract available

    February 2021
  65. FISHER MJ, Jones DTW, Li Y, Guo X, et al
    Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).
    Acta Neuropathol. 2021 Feb 14. pii: 10.1007/s00401-021-02276.
    PubMed     Abstract available

  66. SCHULLER U, Iglauer P, Dorostkar MM, Mawrin C, et al
    Correction to: Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations.
    Acta Neuropathol. 2021 Feb 9. pii: 10.1007/s00401-021-02273.

  67. HOLDHOF D, Johann PD, Spohn M, Bockmayr M, et al
    Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
    Acta Neuropathol. 2021;141:291-301.
    PubMed     Abstract available

    January 2021
  68. SCHULLER U, Iglauer P, Dorostkar MM, Mawrin C, et al
    Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations.
    Acta Neuropathol. 2021 Jan 12. pii: 10.1007/s00401-020-02259.

  69. FUKUMURA K, Malgulwar PB, Fischer GM, Hu X, et al
    Multi-omic molecular profiling reveals potentially targetable abnormalities shared across multiple histologies of brain metastasis.
    Acta Neuropathol. 2021 Jan 4. pii: 10.1007/s00401-020-02256.
    PubMed     Abstract available

  70. BALE TA, Sait SF, Benhamida J, Ptashkin R, et al
    Malignant transformation of a polymorphous low grade neuroepithelial tumor of the young (PLNTY).
    Acta Neuropathol. 2021;141:123-125.

  71. SUWALA AK, Stichel D, Schrimpf D, Kloor M, et al
    Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis.
    Acta Neuropathol. 2021;141:85-100.
    PubMed     Abstract available

    December 2020
  72. SIEVERS P, Sill M, Blume C, Tauziede-Espariat A, et al
    Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.
    Acta Neuropathol. 2020 Dec 14. pii: 10.1007/s00401-020-02247.
    PubMed     Abstract available

    October 2020
  73. KEENAN C, Graham RT, Harreld JH, Lucas JT Jr, et al
    Infratentorial C11orf95-fused gliomas share histologic, immunophenotypic, and molecular characteristics of supratentorial RELA-fused ependymoma.
    Acta Neuropathol. 2020 Oct 24. pii: 10.1007/s00401-020-02238.

  74. PASSOS J, Quidet M, Brahimi A, Flament C, et al
    Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene.
    Acta Neuropathol. 2020 Oct 6. pii: 10.1007/s00401-020-02232.

  75. GOLEBIEWSKA A, Hau AC, Oudin A, Stieber D, et al
    Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.
    Acta Neuropathol. 2020 Oct 3. pii: 10.1007/s00401-020-02226.
    PubMed     Abstract available

    February 2020
  76. LIU APY, Gudenas B, Lin T, Orr BA, 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;139:259-271.
    PubMed     Abstract available

  77. PFAFF E, Aichmuller C, Sill M, Stichel D, et al
    Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
    Acta Neuropathol. 2020;139:243-257.
    PubMed     Abstract available

  78. THOMAS C, Wefers A, Bens S, Nemes K, 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;139:277-286.
    PubMed     Abstract available

  79. SIEVERS P, Schrimpf D, Stichel D, Reuss DE, et al
    Posterior fossa pilocytic astrocytomas with oligodendroglial features show frequent FGFR1 activation via fusion or mutation.
    Acta Neuropathol. 2020;139:403-406.

  80. NEUMANN JE, Spohn M, Obrecht D, Mynarek M, et al
    Molecular characterization of histopathological ependymoma variants.
    Acta Neuropathol. 2020;139:305-318.
    PubMed     Abstract available

  81. GARETON A, Tauziede-Espariat A, Dangouloff-Ros V, Roux A, et al
    The histomolecular criteria established for adult anaplastic pilocytic astrocytoma are not applicable to the pediatric population.
    Acta Neuropathol. 2020;139:287-303.
    PubMed     Abstract available

    January 2020
  82. FELLER C, Felix M, Weiss T, Herold-Mende C, et al
    Histone epiproteomic profiling distinguishes oligodendroglioma, IDH-mutant and 1p/19q co-deleted from IDH-mutant astrocytoma and reveals less tri-methylation of H3K27 in oligodendrogliomas.
    Acta Neuropathol. 2020;139:211-213.

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