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Articles published in Acta Neuropathol

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Single Articles


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


    July 2022
  2. 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
  3. 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


  4. 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.
    PubMed    


  5. 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


  6. 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
  7. 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.
    PubMed    


  8. 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.
    PubMed    


    April 2022
  9. 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.
    PubMed    


  10. 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
  11. 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.
    PubMed    


    February 2022
  12. 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.
    PubMed    


  13. 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


  14. 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
  15. 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


  16. 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.
    PubMed    


  17. 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
  18. 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.
    PubMed    


  19. 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.
    PubMed    


  20. 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
  21. 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


  22. 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
  23. 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.
    PubMed    


  24. 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


  25. 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.
    PubMed    


    August 2021
  26. 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


  27. 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


  28. 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
  29. 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


  30. 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.
    PubMed    


    June 2021
  31. 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


  32. 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.
    PubMed    


  33. 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


  34. 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


  35. 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
  36. 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.
    PubMed    


  37. 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
  38. 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


  39. 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


  40. 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.
    PubMed    


  41. 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.
    PubMed    


    March 2021
  42. 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
  43. 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


  44. 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.
    PubMed    


  45. 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
  46. 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.
    PubMed    


  47. 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


  48. 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.
    PubMed    


  49. 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
  50. 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
  51. 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.
    PubMed    


  52. 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.
    PubMed    


  53. 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


    September 2020
  54. DODGSHUN AJ, Fukuoka K, Edwards M, Bianchi VJ, et al
    Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
    Acta Neuropathol. 2020 Sep 8. pii: 10.1007/s00401-020-02209.
    PubMed     Abstract available


    August 2020
  55. LIU APY, Priesterbach-Ackley LP, Orr BA, Li BK, et al
    WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?
    Acta Neuropathol. 2020 Aug 8. pii: 10.1007/s00401-020-02208.
    PubMed    


    July 2020
  56. SIEVERS P, Hielscher T, Schrimpf D, Stichel D, et al
    CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas.
    Acta Neuropathol. 2020 Jul 8. pii: 10.1007/s00401-020-02188.
    PubMed    


    June 2020
  57. PUN M, Haggerty-Skeans J, Pratt D, Fudym Y, et al
    H3K27M-mutant diffuse midline glioma with extensive intratumoral microthrombi in a young adult with COVID-19-associated coagulopathy.
    Acta Neuropathol. 2020 Jun 29. pii: 10.1007/s00401-020-02184.
    PubMed    


  58. SARATSIS AM, Kambhampati M, Snyder K, Yadavilli S, et al
    Correction to: Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes.
    Acta Neuropathol. 2020 Jun 19. pii: 10.1007/s00401-020-02162.
    PubMed     Abstract available


  59. SMITH KS, Xu K, Mercer KS, Boop F, et al
    Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource.
    Acta Neuropathol. 2020 Jun 10. pii: 10.1007/s00401-020-02171.
    PubMed     Abstract available


    May 2020
  60. EBERHART CG, Bar EE
    Spatial enrichment of cellular states in glioblastoma.
    Acta Neuropathol. 2020 May 24. pii: 10.1007/s00401-020-02165.
    PubMed    


  61. WILLIAMS EA, Wakimoto H, Shankar GM, Barker FG 2nd, et al
    Frequent inactivating mutations of the PBAF complex gene PBRM1 in meningioma with papillary features.
    Acta Neuropathol. 2020 May 13. pii: 10.1007/s00401-020-02161.
    PubMed    


    April 2020
  62. MONDAL G, Lee JC, Ravindranathan A, Villanueva-Meyer JE, et al
    Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.
    Acta Neuropathol. 2020 Apr 17. pii: 10.1007/s00401-020-02155.
    PubMed     Abstract available


    March 2020
  63. CASTEL D, Kergrohen T, Tauziede-Espariat A, Mackay A, et al
    Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation.
    Acta Neuropathol. 2020 Mar 19. pii: 10.1007/s00401-020-02142.
    PubMed    


  64. ZEPEDA-MENDOZA CJ, Vaubel RA, Zarei S, Ida CM, et al
    Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of "dual-genotype" IDH-mutant infiltrating gliomas.
    Acta Neuropathol. 2020 Mar 13. pii: 10.1007/s00401-020-02141.
    PubMed    


  65. SLOAN EA, Hilz S, Gupta R, Cadwell C, et al
    Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
    Acta Neuropathol. 2020 Mar 10. pii: 10.1007/s00401-020-02144.
    PubMed    


    February 2020
  66. 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


  67. 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


  68. 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


  69. 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.
    PubMed    


  70. 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


  71. 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
  72. KIM B, Tabori U, Hawkins C
    An update on the CNS manifestations of brain tumor polyposis syndromes.
    Acta Neuropathol. 2020 Jan 22. pii: 10.1007/s00401-020-02124.
    PubMed     Abstract available


  73. 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.
    PubMed    


    December 2019
  74. CHIANG J, Li X, Liu APY, Qaddoumi I, et al
    Tectal glioma harbors high rates of KRAS G12R and concomitant KRAS and BRAF alterations.
    Acta Neuropathol. 2019 Dec 10. pii: 10.1007/s00401-019-02112.
    PubMed    


  75. LI BK, Vasiljevic A, Dufour C, Yao F, et al
    Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.
    Acta Neuropathol. 2019 Dec 9. pii: 10.1007/s00401-019-02111.
    PubMed     Abstract available


    November 2019
  76. KORSHUNOV A, Okonechnikov K, Sahm F, Ryzhova M, et al
    Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
    Acta Neuropathol. 2019 Nov 28. pii: 10.1007/s00401-019-02102.
    PubMed     Abstract available


  77. SIEVERS P, Chiang J, Schrimpf D, Stichel D, et al
    YAP1-fusions in pediatric NF2-wildtype meningioma.
    Acta Neuropathol. 2019 Nov 16. pii: 10.1007/s00401-019-02095.
    PubMed    


    October 2019
  78. CHIANG J, Harreld JH, Tinkle CL, Moreira DC, et al
    A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration.
    Acta Neuropathol. 2019 Oct 8. pii: 10.1007/s00401-019-02081.
    PubMed    


    September 2019
  79. WEFERS AK, Stichel D, Schrimpf D, Coras R, et al
    Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
    Acta Neuropathol. 2019 Sep 28. pii: 10.1007/s00401-019-02078.
    PubMed     Abstract available


    February 2019
  80. FRITCHIE K, Jensch K, Moskalev EA, Caron A, et al
    The impact of histopathology and NAB2-STAT6 fusion subtype in classification and grading of meningeal solitary fibrous tumor/hemangiopericytoma.
    Acta Neuropathol. 2019;137:307-319.
    PubMed     Abstract available


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