Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
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Reifenberger G, Rodriguez F, Burger PC, Perry A, Capper D (2016) Diffuse leptomeningeal glioneuronal tumour. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (Eds) WHO classification of tumours of the central nervous system (Revised 4th edition). IARC, Lyon, pp 152–155
Schwetye KE, Kansagra AP, McEachern J, Schmidt RE, Gauvain K, Dahiya S (2017) Unusual high-grade features in pediatric diffuse leptomeningeal glioneuronal tumor: comparison with a typical low-grade example. Hum Pathol 70:105–112
Schniederjan MJ, Alghamdi S, Castellano-Sanchez A, Mazewski C, Brahma B, Brat DJ, Brathwaite CD, Janss AJ (2013) Diffuse leptomeningeal neuroepithelial tumor: 9 pediatric cases with chromosome 1p/19q deletion status and IDH1 (R132H) immunohistochemistry. Am J Surg Pathol 37:763–771
Cho HJ, Myung JK, Kim H, Park CK, Kim SK, Chung CK, Choi SH, Park SH (2015) Primary diffuse leptomeningeal glioneuronal tumors. Brain Tumor Pathol 32:49–55
Preuss M, Christiansen H, Merkenschlager A, Hirsch FW, Kiess W, Müller W, Kästner S, Henssler A, Pekrun A, Hauch H, Nathrath M, Meixensberger J, Pietsch T, Kuchelmeister K (2015) Disseminated oligodendroglial-like leptomeningeal tumors: preliminary diagnostic and therapeutic results for a novel tumor entity. J Neurooncol 124:65–74
Karlowee V, Kolakshyapati M, Amatya VJ, Takayasu T, Nosaka R, Sugiyama K, Kurisu K, Yamasaki F (2017) Diffuse leptomeningeal glioneuronal tumor (DLGNT) mimicking Whipple’s disease: a case report and literature review. Childs Nerv Syst 33:1411–1414
Dyson K, Rivera-Zengotita M, Kresak J et al (2016) FGFR1 N546K and H3F3A K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers. Histopathology 69:704–707
Rodriguez FJ, Schniederjan MJ, Nicolaides T, Tihan T, Burger PC, Perry A (2015) High rate of concurrent BRAF-KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN). Acta Neuropathol 129:609–610
Kessler BA, Bookhout C, Jaikumar S, Hipps J, Lee YZ (2015) Disseminated oligodendroglial-like leptomeningeal tumor with anaplastic progression and presumed extraneural disease: case report. Clin Imaging 39:300–304
Dodgshun AJ, SantaCruz N, Hwang J et al (2016) Disseminated glioneuronal tumors occurring in childhood: treatment outcomes and BRAF alterations including V600E mutation. J Neurooncol 128:293–302
Nambirajan A, Suri V, Sharma MC, Kumar R, Garg A, Gulati S, Tandon V (2015) A 7-year-old girl with recurrent episodes of abdominal pain, seizures, and loss of vision: primary diffuse leptomeningeal primitive neuroectodermal tumor masquerading as chronic meningitis. Neurol India 63:736–742
Lyle MR, Dolia JN, Fratkin J, Nichols TA, Herrington BL (2015) Newly identified characteristics and suggestions for diagnosis and treatment of diffuse leptomeningeal glioneuronal/neuroepithelial tumors: a case report and review of the literature. Child Neurol Open Feb 16(1):2329048X 14567531. https://doi.org/10.1177/2329048X14567531
Rodriguez FJ, Perry A, Rosenblum MK, Krawitz S, Cohen KJ, Lin D, Mosier S, Lin MT, Eberhart CG, Burger PC (2012) Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entity. Acta Neuropathol 124:627–641
Deng MY, Sill M, Chiang J et al (2018) Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features. Acta Neuropathol. https://doi.org/10.1007/s00401-018-1865-4
Hawkins C, Ellison DW, Sturm D.(2016) Diffuse midline glioma, H3 K27M-mutant. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (Eds) WHO classification of tumours of the central nervous system (Revised 4th edition). IARC, Lyon, pp 57–59
Nguyen AT, Colin C, Nanni-Metellus I et al (2015) Evidence for BRAF V600E and H3F3A K27M double mutations in paediatric glial and glioneuronal tumours. Neuropathol Appl Neurobiol 41:403–408