癫痫外科常见病理类型体细胞突变研究进展

doi:10.3969/j.issn.1672-6731.2023.02.008

摘要/Abstract

摘要： 癫痫是临床常见的神经系统疾病，结构性病因导致的癫痫手术切除病灶可治愈，一直是癫痫外科关注的重点。随着基因检测技术的发展，发现结构性病因可能由体细胞突变所致。本文综述皮质发育畸形、长期癫痫相关肿瘤、海马硬化和下丘脑错构瘤4种癫痫外科常见病理类型体细胞突变相关致病基因及其研究进展，以及对手术方案制定和手术预后的影响，以为癫痫外科治疗提供新的思路。

关键词: 癫痫, 基因, 突变, 病理学, 综述

Abstract: Epilepsy is a common neurological disease in clinic. Epilepsy caused by structural causes can be cured by surgery, which has been the focus of attention in the field of epilepsy surgery. With the development of gene sequencing technology, more and more studies have found that structural etiology may be caused by somatic mutations of genes. In this paper, somatic mutation-related pathogenic genes of four common pathological types of epilepsy surgery, including malformation of cortical development (MCD), long-term epilepsy associated tumor (LEAT), hippocampal sclerosis (HS) and hypothalamic hamartoma (HH), were reviewed, and their effects on surgical protocol formulation and prognosis were reviewed, in order to provide a new idea for the treatment of epilepsy.

Key words: Epilepsy, Genes, Mutation, Pathology, Review

李字林, 胡文瀚, 张凯. 癫痫外科常见病理类型体细胞突变研究进展[J]. 中国现代神经疾病杂志, 2023, 23(2): 115-123.

LI Zi-lin, HU Wen-han, ZHANG Kai. Research progress on common pathological types of somatic mutation in epilepsy surgery[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(2): 115-123.

https://journal11.magtechjournal.com/cjcnn/CN/Y2023/V23/I2/115

参考文献

[1] Falco-Walter J. Epilepsy:definition, classification, pathophysiology, and epidemiology[J]. Semin Neurol, 2020, 40:617-623.
[2] Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, Lagae L, Moshé SL, Peltola J, Roulet Perez E, Scheffer IE, Zuberi SM. Operational classification of seizure types by the International League Against Epilepsy:Position Paper of the ILAE Commission for Classification and Terminology[J]. Epilepsia, 2017, 58:522-530.
[3] Moloney PB, Cavalleri GL, Delanty N. Epilepsy in the mTORopathies:opportunities for precision medicine[J]. Brain Commun, 2021, 3:fcab222.
[4] Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation:the hidden genetics of brain malformations and focal epilepsies[J]. Epilepsy Res, 2019, 155:106161.
[5] Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions[J]. Epilepsia, 2022, 63:1981-1997.
[6] D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias[J]. Cell Rep, 2017, 21:3754-3766.
[7] Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)[J]. Acta Neuropathol Commun, 2021, 9:3.
[8] Kuzniecky RI. Magnetic resonance imaging in developmental disorders of the cerebral cortex[J]. Epilepsia, 1994, 35 Suppl 6:S44-56.
[9] Leventer RJ, Phelan EM, Coleman LT, Kean MJ, Jackson GD, Harvey AS. Clinical and imaging features of cortical malformations in childhood[J]. Neurology, 1999, 53:715-722.
[10] Juric-Sekhar G, Hevner RF. Malformations of cerebral cortex development:molecules and mechanisms[J]. Annu Rev Pathol, 2019, 14:293-318.
[11] Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy[J]. Cold Spring Harb Perspect Med, 2015, 5:a022392.
[12] Romero DM, Bahi-Buisson N, Francis F. Genetics and mechanisms leading to human cortical malformations[J]. Semin Cell Dev Biol, 2018, 76:33-75.
[13] Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N, Jackson G, Lüders HO, Prayson R, Spreafico R, Vinters HV. Terminology and classification of the cortical dysplasias[J]. Neurology, 2004, 62(6 Suppl 3):S2-8.
[14] Mühlebner A, Gröppel G, Dressler A, Reiter-Fink E, Kasprian G, Prayer D, Dorfer C, Czech T, Hainfellner JA, Coras R, Blümcke I, Feucht M. Epilepsy surgery in children and adolescents with malformations of cortical development:outcome and impact of the new ILAE classification on focal cortical dysplasia[J]. Epilepsy Res, 2014, 108:1652-1661.
[15] Krsek P, Maton B, Korman B, Pacheco-Jacome E, Jayakar P, Dunoyer C, Rey G, Morrison G, Ragheb J, Vinters HV, Resnick T, Duchowny M. Different features of histopathological subtypes of pediatric focal cortical dysplasia[J]. Ann Neurol, 2008, 63:758-769.
[16] Schurr J, Coras R, Rössler K, Pieper T, Kudernatsch M, Holthausen H, Winkler P, Woermann F, Bien CG, Polster T, Schulz R, Kalbhenn T, Urbach H, Becker A, Grunwald T, Huppertz HJ, Gil-Nagel A, Toledano R, Feucht M, Mühlebner A, Czech T, Blümcke I. Mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy:a new clinico-pathological entity[J]. Brain Pathol, 2017, 27:26-35.
[17] Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I. The ILAE consensus classification of focal cortical dysplasia:an update proposed by an ad hoc task force of the ILAE diagnostic methods commission[J]. Epilepsia, 2022, 63:1899-1919.
[18] Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S. Dissecting the genetic basis of focal cortical dysplasia:a large cohort study[J]. Acta Neuropathol, 2019, 138:885-900.
[19] Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH. Brain somatic mutations in MTOR cause focal cortical dysplasia type Ⅱ leading to intractable epilepsy[J]. Nat Med, 2015, 21:395-400.
[20] Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia[J]. Brain, 2015, 138(Pt 6):1613-1628.
[21] Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism[J]. JAMA Neurol, 2016, 73:836-845.
[22] Blümcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS, Rocha CS, Sim NS, Lee JH, Kim SH, Baulac S, Baldassari S, Adle-Biassette H, Walsh CA, Bizzotto S, Doan RN, Morillo KS, Aronica E, Mühlebner A, Becker A, Cienfuegos J, Garbelli R, Giannini C, Honavar M, Jacques TS, Thom M, Mahadevan A, Miyata H, Niehusmann P, Sarnat HB, Söylemezoglu F, Najm I. Toward a better definition of focal cortical dysplasia:an iterative histopathological and genetic agreement trial[J]. Epilepsia, 2021, 62:1416-1428.
[23] Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly[J]. Nat Genet, 2012, 44:941-945.
[24] Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations[J]. Neuron, 2012, 74:41-48.
[25] Sim NS, Ko A, Kim WK, Kim SH, Kim JS, Shim KW, Aronica E, Mijnsbergen C, Spliet WGM, Koh HY, Kim HD, Lee JS, Kim DS, Kang HC, Lee JH. Precise detection of low-level somatic mutation in resected epilepsy brain tissue[J]. Acta Neuropathol, 2019, 138:901-912.
[26] Lee WS, Stephenson SEM, Pope K, Gillies G, Maixner W, Macdonald-Laurs E, MacGregor D, D'Arcy C, Jackson G, Harvey AS, Leventer RJ, Lockhart PJ. Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy[J]. Neurology, 2020, 95:e2542-2551.
[27] Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S. Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy[J]. J Clin Invest, 2018, 128:2452-2458.
[28] Zhang Z, Gao K, Liu Q, Zhou J, Li X, Lang N, Liu M, Wang T, Zhang J, Wang H, Dong Y, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y. Somatic variants in new candidate genes identified in focal cortical dysplasia typeⅡ[J]. Epilepsia, 2020, 61:667-678.
[29] Sim NS, Seo Y, Lim JS, Kim WK, Son H, Kim HD, Kim S, An HJ, Kang HC, Kim SH, Kim DS, Lee JH. Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation[J]. Neurol Genet, 2018, 4:e294.
[30] Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy[J]. Ann Neurol, 2018, 83:1133-1146.
[31] Miller KE, Koboldt DC, Schieffer KM, Bedrosian TA, Crist E, Sheline A, Leraas K, Magrini V, Zhong H, Brennan P, Bush J, Fitch J, Bir N, Miller AR, Cottrell CE, Leonard J, Pindrik JA, Rusin JA, Shah SH, White P, Wilson RK, Mardis ER, Pierson CR, Ostendorf AP. Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue[J]. Neurol Genet, 2020, 6:e460.
[32] Benova B, Jacques TS. Genotype-phenotype correlations in focal malformations of cortical development:a pathway to integrated pathological diagnosis in epilepsy surgery[J]. Brain Pathol, 2019, 29:473-484.
[33] Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group, study group, European Reference Network EpiCARE. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis:a retrospective multicentre cohort study[J]. Lancet Neurol, 2020, 19:748-757.
[34] Mendes Coelho VC, Morita-Sherman M, Yasuda CL, Alvim MMK, Amorim BJ, Tedeschi H, Ghizoni E, Rogerio F, Cendes F. Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort[J]. Epilepsia, 2021, 62:1429-1441.
[35] Gaballa A, Woermann FG, Cloppenborg T, Kalbhenn T, Blümcke I, Bien CG, Fauser S. Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia[J]. Epilepsia, 2021, 62:2920-2931.
[36] Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. The landscape of epilepsy-related GATOR1 variants[J]. Genet Med, 2019, 21:398-408.
[37] Vawter-Lee M, Franz DN, Fuller CE, Greiner HM. Clinical letter:a case report of targeted therapy with sirolimus for NPRL3 epilepsy[J]. Seizure, 2019, 73:43-45.
[38] Slegers RJ, Blumcke I. Low-grade developmental and epilepsy associated brain tumors:a critical update 2020[J]. Acta Neuropathol Commun, 2020, 8:27.
[39] Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium. Histopathological findings in brain tissue obtained during epilepsy surgery[J]. N Engl J Med, 2017, 377:1648-1656.
[40] Thom M, Blümcke I, Aronica E. Long-term epilepsy-associated tumors[J]. Brain Pathol, 2012, 22:350-379.
[41] Phi JH, Kim SK. Clinical pearls and advances in molecular researches of epilepsy-associated tumors[J]. J Korean Neurosurg Soc, 2019, 62:313-320.
[42] Qaddoumi I, Orisme W, Wen J, Santiago T, Gupta K, Dalton JD, Tang B, Haupfear K, Punchihewa C, Easton J, Mulder H, Boggs K, Shao Y, Rusch M, Becksfort J, Gupta P, Wang S, Lee RP, Brat D, Peter Collins V, Dahiya S, George D, Konomos W, Kurian KM, McFadden K, Serafini LN, Nickols H, Perry A, Shurtleff S, Gajjar A, Boop FA, Klimo PD Jr, Mardis ER, Wilson RK, Baker SJ, Zhang J, Wu G, Downing JR, Tatevossian RG, Ellison DW. Genetic alterations in uncommon low-grade neuroepithelial tumors:BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology[J]. Acta Neuropathol, 2016, 131:833-845.
[43] Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA. Mutations of the BRAF gene in human cancer[J]. Nature, 2002, 417:949-954.
[44] Dougherty MJ, Santi M, Brose MS, Ma C, Resnick AC, Sievert AJ, Storm PB, Biegel JA. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas[J]. Neuro Oncol, 2010, 12:621-630.
[45] Koelsche C, Wöhrer A, Jeibmann A, Schittenhelm J, Schindler G, Preusser M, Lasitschka F, von Deimling A, Capper D. Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells[J]. Acta Neuropathol, 2013, 125:891-900.
[46] Blümcke I, Wiestler OD. Gangliogliomas:an intriguing tumor entity associated with focal epilepsies[J]. J Neuropathol Exp Neurol, 2002, 61:575-584.
[47] Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, Gronych J, Lasitschka B, Schmidt S, Seker-Cin H, Witt H, Sultan M, Ralser M, Northcott PA, Hovestadt V, Bender S, Pfaff E, Stark S, Faury D, Schwartzentruber J, Majewski J, Weber UD, Zapatka M, Raeder B, Schlesner M, Worth CL, Bartholomae CC, von Kalle C, Imbusch CD, Radomski S, Lawerenz C, van Sluis P, Koster J, Volckmann R, Versteeg R, Lehrach H, Monoranu C, Winkler B, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, Ebinger M, Schuhmann MU, Cho YJ, Pomeroy SL, von Deimling A, Witt O, Taylor MD, Wolf S, Karajannis MA, Eberhart CG, Scheurlen W, Hasselblatt M, Ligon KL, Kieran MW, Korbel JO, Yaspo ML, Brors B, Felsberg J, Reifenberger G, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM; International Cancer Genome Consortium PedBrain Tumor Project. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma[J]. Nat Genet, 2013, 45:927-932.
[48] Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors[J]. Acta Neuropathol, 2016, 131:847-863.
[49] Zhang J, Wu G, Miller CP, Tatevossian RG, Dalton JD, Tang B, Orisme W, Punchihewa C, Parker M, Qaddoumi I, Boop FA, Lu C, Kandoth C, Ding L, Lee R, Huether R, Chen X, Hedlund E, Nagahawatte P, Rusch M, Boggs K, Cheng J, Becksfort J, Ma J, Song G, Li Y, Wei L, Wang J, Shurtleff S, Easton J, Zhao D, Fulton RS, Fulton LL, Dooling DJ, Vadodaria B, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW; St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas[J]. Nat Genet, 2013, 45:602-612.
[50] Wefers AK, Stichel D, Schrimpf D, Coras R, Pages M, Tauziède-Espariat A, Varlet P, Schwarz D, Söylemezoglu F, Pohl U, Pimentel J, Meyer J, Hewer E, Japp A, Joshi A, Reuss DE, Reinhardt A, Sievers P, Casalini MB, Ebrahimi A, Huang K, Koelsche C, Low HL, Rebelo O, Marnoto D, Becker AJ, Staszewski O, Mittelbronn M, Hasselblatt M, Schittenhelm J, Cheesman E, de Oliveira RS, Queiroz RGP, Valera ET, Hans VH, Korshunov A, Olar A, Ligon KL, Pfister SM, Jaunmuktane Z, Brandner S, Tatevossian RG, Ellison DW, Jacques TS, Honavar M, Aronica E, Thom M, Sahm F, von Deimling A, Jones DTW, Blumcke I, Capper D. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course[J]. Acta Neuropathol, 2020, 139:193-209.
[51] Hou Y, Pinheiro J, Sahm F, Reuss DE, Schrimpf D, Stichel D, Casalini B, Koelsche C, Sievers P, Wefers AK, Reinhardt A, Ebrahimi A, Fernández-Klett F, Pusch S, Meier J, Schweizer L, Paulus W, Prinz M, Hartmann C, Plate KH, Reifenberger G, Pietsch T, Varlet P, Pagès M, Schüller U, Scheie D, de Stricker K, Frank S, Hench J, Pollo B, Brandner S, Unterberg A, Pfister SM, Jones DTW, Korshunov A, Wick W, Capper D, Blümcke I, von Deimling A, Bertero L. Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA[J]. Acta Neuropathol, 2019, 137:837-846.
[52] Xing H, Song Y, Zhang Z, Koch PD. Clinical characteristics of BRAF V600E gene mutation in patients of epilepsy-associated brain tumor:a meta-analysis[J]. J Mol Neurosci, 2021, 71:1815-1824.
[53] Mehrotra A, Singh S, Kanjilal S, Pal L, Paliwal VK, Sardhara J, Verma PK, Maurya VP, Bhaisora KS, Das KK, Srivastava AK, Jaiswal AK, Behari S. Factors affecting seizure outcome in long-term epilepsy associated tumors (LEATs) in children and young adolescents[J]. Clin Neurol Neurosurg, 2020, 197:106104.
[54] Pelliccia V, Deleo F, Gozzo F, Sartori I, Mai R, Cossu M, Tassi L. Early and late epilepsy surgery in focal epilepsies associated with long-term epilepsy-associated tumors[J]. J Neurosurg, 2017, 127:1147-1152.
[55] Chen X, Pan C, Zhang P, Xu C, Sun Y, Yu H, Wu Y, Geng Y, Zuo P, Wu Z, Zhang J, Zhang L. BRAF V600E mutation is a significant prognosticator of the tumour regrowth rate in brainstem gangliogliomas[J]. J Clin Neurosci, 2017, 46:50-57.
[56] Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR. BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma[J]. Acta Neuropathol, 2013, 125:901-910.
[57] Subbiah V, Lassen U, Élez E, Italiano A, Curigliano G, Javle M, de Braud F, Prager GW, Greil R, Stein A, Fasolo A, Schellens JHM, Wen PY, Viele K, Boran AD, Gasal E, Burgess P, Ilankumaran P, Wainberg ZA. Dabrafenib plus trametinib in patients with BRAFV600E-mutated biliary tract cancer (ROAR):a phase 2, open-label, single-arm, multicentre basket trial[J]. Lancet Oncol, 2020, 21:1234-1243.
[58] Garnier L, Ducray F, Verlut C, Mihai MI, Cattin F, Petit A, Curtit E. Prolonged response induced by single agent vemurafenib in a BRAF V600E spinal ganglioglioma:a case report and review of the literature[J]. Front Oncol, 2019, 9:177.
[59] Yau WH, Ameratunga M. Combination of BRAF and MEK inhibition in BRAF V600E mutant low-grade ganglioglioma[J]. J Clin Pharm Ther, 2020, 45:1172-1174.
[60] French JA, Williamson PD, Thadani VM, Darcey TM, Mattson RH, Spencer SS, Spencer DD. Characteristics of medial temporal lobe epilepsy. Ⅰ:results of history and physical examination[J]. Ann Neurol, 1993, 34:774-780.
[61] Davies KG, Hermann BP, Dohan FC Jr, Foley KT, Bush AJ, Wyler AR. Relationship of hippocampal sclerosis to duration and age of onset of epilepsy, and childhood febrile seizures in temporal lobectomy patients[J]. Epilepsy Res, 1996, 24:119-126.
[62] Chiang LM, Huang GS, Sun CC, Hsiao YL, Hui CK, Hu MH. Association of developing childhood epilepsy subsequent to febrile seizure:a population-based cohort study[J]. Brain Dev, 2018, 40:775-780.
[63] Di Gennaro G, Casciato S, Quarato PP, Mascia A, D'Aniello A, Grammaldo LG, De Risi M, Meldolesi GN, Romigi A, Esposito V, Picardi A. Acute postoperative seizures and long-term seizure outcome after surgery for hippocampal sclerosis[J]. Seizure, 2015, 24:59-62.
[64] Tugcu B, Gungor A, Akpinar A, Kinay D, Kuscu DY, Gül G, Kayrak N, Keskinkilic C, Akdemir H, Emel E. Outcome of surgical treatment of hippocampal sclerosis from relatively new epilepsy surgery center[J]. J Neurosurg Sci, 2016, 60:159-168.
[65] Pitskhelauri DI, Kudieva ES, Melikyan AG, Vlasov PA, Kamenetskaya MI, Zaitsev OS, Kozlova AB, Eliseeva NM, Shishkina LV, Danilov GV, Nagorskaya IA, Sanikidze AZ, Melnikova-Pitskhelauri TV, Pronin IN, Konovalov AN. Surgical treatment of drug-resistant epilepsy following hippocampal sclerosis[J]. Zh Vopr Neirokhir Im NN Burdenko, 2021, 85:31-40.
[66] Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM; UK Brain Expression Consortium. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A[J]. Brain, 2013, 136(Pt 10):3140-3150.
[67] Zhang Y, Li SQ, Chen J. The mechanisms of hippocampai mitochondrial stress and neuronal injury after thrombotic cerebral ischemia in Tree Shrews[J]. Zhong Feng Yu Shen Jing Ji Bing Za Zhi, 2007, 24:140-142[.张颖, 李树清, 陈静. 树鼩脑缺血后海马线粒体应激与神经元损伤机制研究[J]. 中风与神经疾病杂志, 2007, 24:140-142.]
[68] Stevelink R, Sanders MW, Tuinman MP, Brilstra EH, Koeleman BP, Jansen FE, Braun KP. Epilepsy surgery for patients with genetic refractory epilepsy:a systematic review[J]. Epileptic Disord, 2018, 20:99-115.
[69] Pepi C, de Palma L, Trivisano M, Pietrafusa N, Lepri FR, Diociaiuti A, Camassei FD, Carfi-Pavia G, De Benedictis A, Rossi-Espagnet C, Vigevano F, Marras CE, Novelli A, Bluemcke I, Specchio N. The role of KRAS mutations in cortical malformation and epilepsy surgery:a novel report of nevus sebaceous syndrome and review of the literature[J]. Brain Sci, 2021, 11:793.
[70] Cohen NT, Cross JH, Arzimanoglou A, Berkovic SF, Kerrigan JF, Miller IP, Webster E, Soeby L, Cukiert A, Hesdorffer DK, Kroner BL, Saper CB, Schulze-Bonhage A, Gaillard WD; Hypothalamic Hamartoma Writing Group. Hypothalamic hamartomas:evolving understanding and management[J]. Neurology, 2021, 97:864-873.
[71] Kerrigan JF, Parsons A, Tsang C, Simeone K, Coons S, Wu J. Hypothalamic hamartoma:neuropathology and epileptogenesis[J]. Epilepsia, 2017, 58 Suppl 2:22-31.
[72] Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, Johnsonbaugh RE, Coons SW, Prenger EC, Kerrigan JF Jr, Seminara SB. Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1[J]. Horm Res Paediatr, 2010, 73:312-319.
[73] Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy[J]. Am J Hum Genet, 2016, 99:423-429.
[74] Corman TS, Bergendahl SE, Epstein DJ. Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus[J]. Development, 2018, 145:dev167379.
[75] Boudreau EA, Liow K, Frattali CM, Wiggs E, Turner JT, Feuillan P, Sato S, Patsalides A, Patronas N, Biesecker LG, Theodore WH. Hypothalamic hamartomas and seizures:distinct natural history of isolated and Pallister-Hall syndrome cases[J]. Epilepsia, 2005, 46:42-47.
[76] Wang S, Zhao M, Li T, Zhang C, Zhou J, Wang M, Wang X, Liu Z, Ma K, Luan G, Guan Y. Stereotactic radiofrequency thermocoagulation and resective surgery for patients with hypothalamic hamartoma[J]. J Neurosurg, 2020, 134:1019-1026.
[77] Liu C, Zheng Z, Shao XQ, Li CD, Yang XL, Zhang C, Sang L, Xie F, Zhou F, Hu WH, Zhang K. Stereoelectroencephalography-guided radiofrequency thermocoagulation for hypothalamic hamartoma:electroclinical patterns and the relationship with surgical prognosis[J]. Epilepsy Behav, 2021, 118:107957.
[78] Mithani K, Neudorfer C, Boutet A, Germann J, Elias GJB, Weil AG, Donner E, Kalia S, Lozano AM, Drake JM, Widjaja E, Ibrahim GM. Surgical targeting of large hypothalamic hamartomas and seizure-freedom following MR-guided laser interstitial thermal therapy[J]. Epilepsy Behav, 2021, 116:107774.
[79] Gadgil N, Lam S, Pan IW, LoPresti M, Wagner K, Ali I, Wilfong A, Curry DJ. Staged magnetic resonance-guided laser interstitial thermal therapy for hypothalamic hamartoma:analysis of ablation volumes and morphological considerations[J]. Neurosurgery, 2020, 86:808-816.
[80] Yao Y, Wang X, Hu W, Zhang C, Sang L, Zheng Z, Mo J, Liu C, Qiu J, Shao X, Zhang J, Zhang K. Magnetic resonance-guided laser interstitial thermal therapy for hypothalamic hamartoma:surgical approach and treatment outcomes[J]. J Clin Med, 2022, 11:6579.

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