Li Siqi,Liu Jun,Wang Guanyun,et al.Clinical manifestations and pathogenesis of syndromes associated with neuroblastic tumors[J].Journal of Clinical Pediatric Surgery,2025,(04):396-400.[doi:10.3760/cma.j.cn101785-232307003-019]
神经母细胞性肿瘤相关综合征的临床表现及发病机制
- Title:
- Clinical manifestations and pathogenesis of syndromes associated with neuroblastic tumors
- Keywords:
- Neuroblastic Tumors; Neuroblastoma; Syndrome; Pathological Conditions; Signs and Symptoms; Pathologic Processes
- 摘要:
- 神经母细胞性肿瘤(neuroblastic tumors,NTs)作为儿童最常见的颅外实体肿瘤,可以引发某些综合征,或在某些综合征中罹患风险增加。系统了解NTs相关综合征,可以加深对NTs的认识和理解,进而有助于NTs及其相关综合征的早期发现、早期诊断,从而进行早期干预,一定程度上改善患者预后。本文就NTs相关综合征的临床表现及发病机制进行综述。
- Abstract:
- As one of the most common pediatric extracranial solid tumors,neuroblastic tumors (NTs) may cause some syndromes and their risks become elevated in some syndromes due to gene mutations.A systematic understanding of syndromes associated with NTs can deepen the knowledge and comprehension of NTs,contribute to early detection and diagnosis of NTs and their associated syndromes and enable early interventions for better outcomes.This review summarized upon the clinical manifestations and pathogenesis of syndromes associated with NTs.
参考文献/References:
[1] 王鹏程,董瑞.神经母细胞瘤4S期预后不良相关因素的研究进展[J].临床小儿外科杂志,2022,21(4):394-398.DOI:10.3760/cma.j.cn101785-202108053-019. Wang PC,Dong R.Research advances on poor prognostic factors of children with stage 4S neuroblastoma[J].DOI:10.3760/cma.j.cn101785-202108053-019.
[2] 张梅慧,姜大朋.先天性神经母细胞瘤发病机制与临床特点的研究进展[J].临床小儿外科杂志,2022,21(2):141-145.DOI:10.3760/cma.j.cn101785-202105045-008. Zhang MH,Jiang DP.Pathogenesis and clinical characteristics of congenital neuroblastoma[J].J Clin Ped Sur,2022,21(2):141-145.DOI:10.3760/cma.j.cn101785-202105045-008.
[3] Zeineldin M,Patel AG,Dyer MA.Neuroblastoma:when differentiation goes awry[J].Neuron,2022,110(18):2916-2928.DOI:10.1016/j.neuron.2022.07.012.
[4] Swift CC,Eklund MJ,Kraveka JM,et al.Updates in diagnosis,management,and treatment of neuroblastoma[J].Radiographics,2018,38(2):566-580.DOI:10.1148/rg.2018170132.
[5] Shimada H,Ambros IM,Dehner LP,et al.The international neuroblastoma pathology classification (the shimada system)[J].Cancer,1999,86(2):364-372.
[6] Mete O,Asa SL,Gill AJ,et al.Overview of the 2022 WHO classification of paragangliomas and pheochromocytomas[J].Endocr Pathol,2022,33(1):90-114.DOI:10.1007/s12022-022-09704-6.
[7] Maris JM.Recent advances in neuroblastoma[J].N Engl J Med,2010,362(23):2202-2211.DOI:10.1056/NEJMra0804577.
[8] Zafar A,Wang W,Liu G,et al.Molecular targeting therapies for neuroblastoma:progress and challenges[J].Med Res Rev,2021,41(2):961-1021.DOI:10.1002/med.21750.
[9] Sznewajs A,Pon E,Matthay KK.Congenital malformation syndromes associated with peripheral neuroblastic tumors:a systematic review[J].Pediatr Blood Cancer,2019,66(10):e27901.DOI:10.1002/pbc.27901.
[10] Ma GM,Chow JS,Taylor GA.Review of paraneoplastic syndromes in children[J].Pediatr Radiol,2019,49(4):534-550.DOI:10.1007/s00247-019-04371-y.
[11] Sardi?a González C,Martínez Vivero C,López Castro J.Paraneoplastic syndromes review:the great forgotten ones[J].Crit Rev Oncol Hematol,2022,174:103676.DOI:10.1016/j.critrevonc.2022.103676.
[12] Rothenberg AB,Berdon WE,D’Angio GJ,et al.The association between neuroblastoma and opsoclonus-myoclonus syndrome:a historical review[J].Pediatr Radiol,2009,39(7):723-726.DOI:10.1007/s00247-009-1282-x.
[13] Kimura N,Yamamoto H,Okamoto H,et al.Multiple-hormone gene expression in ganglioneuroblastoma with watery diarrhea,hypokalemia,and achlorhydria syndrome[J].Cancer,1993,71(9):2841-2846.DOI:10.1002/1097-0142(19930501)71:9<2841::aid-cncr2820710927>3.0.co;2-z.
[14] Normann T,Havnen J,Mjolnerod O.Cushing’s syndrome in an infant associated with neuroblastoma in two ectopic adrenal glands[J].J Pediatr Surg,1971,6(2):169-175.DOI:10.1016/0022-3468(71)90313-7.
[15] Elzomor H,El Menawi S,Elawady H,et al.Neuroblastoma-associated opsoclonous myoclonous ataxia syndrome:profile and outcome report on 15 Egyptian patients[J].J Pediatr Hematol Oncol,2023,45(2):e194-e199.DOI:10.1097/MPH.0000000000002466.
[16] Bourgois B,Boman F,Nelken B,et al.Intractable diarrhoea revealing a neuroblastoma hypersecreting the vasoactive intestinal peptide[J].Arch Pediatr,2004,11(4):340-343.DOI:10.1016/j.arcped.2004.01.015.
[17] Rossor T,Yeh EA,Khakoo Y,et al.Diagnosis and management of Opsoclonus-Myoclonus-Ataxia syndrome in children:an international perspective[J].Neurol Neuroimmunol Neuroinflamm,2022,9(3):e1153.DOI:10.1212/NXI.0000000000001153.
[18] King PH,Redden D,Palmgren JS,et al.Hu antigen specificities of ANNA-I autoantibodies in paraneoplastic neurological disease[J].J Autoimmun,1999,13(4):435-443.DOI:10.1006/jaut.1999.0337.
[19] Mitchell WG,Blaes F.Cancer and autoimmunity:paraneoplastic neurological disorders associated with neuroblastic tumors[J].Semin Pediatr Neurol,2017,24(3):180-188.DOI:10.1016/j.spen.2017.08.011.
[20] Harvengt J,Gernay C,Mastouri M,et al.ROHHAD(NET) syndrome:systematic review of the clinical timeline and recommendations for diagnosis and prognosis[J].J Clin Endocrinol Metab,2020,105(7):dgaa247.DOI:10.1210/clinem/dgaa247.
[21] Giacomozzi C,Guaraldi F,Cambiaso P,et al.Anti-hypothalamus and anti-pituitary auto-antibodies in ROHHAD syndrome:additional evidence supporting an autoimmune etiopathogenesis[J].Horm Res Paediatr,2019,92(2):124-132.DOI:10.1159/000499163.
[22] Patwari PP,Wolfe LF.Rapid-onset obesity with hypothalamic dysfunction,hypoventilation,and autonomic dysregulation:review and update[J].Curr Opin Pediatr,2014,26(4):487-492.DOI:10.1097/MOP.0000000000000118.
[23] Hereditary cancer syndromes and risk assessment:ACOG Committee Opinion,number 793[J].Obstet Gynecol,2019,134(6):e143-e149.DOI:10.1097/AOG.0000000000003562.
[24] Fetahu IS,Taschner-Mandl S.Neuroblastoma and the epigenome[J].Cancer Metastasis Rev,2021,40(1):173-189.DOI:10.1007/s10555-020-09946-y.
[25] Qian LD,Yang S,Zhang SX,et al.Prediction of MYCN amplification,1p and 11q aberrations in pediatric neuroblastoma via pre-therapy 18F-FDG PET/CT radiomics[J].Front Med (Lausanne),2022,9:840777.DOI:10.3389/fmed.2022.840777.
[26] Sato TS,Handa A,Priya S,et al.Neurocristopathies:enigmatic appearances of neural crest cell-derived abnormalities[J].Radiographics,2019,39(7):2085-2102.DOI:10.1148/rg.2019190086.
[27] Kamihara J,Bourdeaut F,Foulkes WD,et al.Retinoblastoma and neuroblastoma predisposition and surveillance[J].Clin Cancer Res,2017,23(13):e98-e106.DOI:10.1158/1078-0432.CCR-17-0652.
[28] Vega-Lopez GA,Cerrizuela S,Tribulo C,et al.Neurocristopathies:new insights 150 years after the neural crest discovery[J].Dev Biol,2018,444(Suppl 1):S110-S143.DOI:10.1016/j.ydbio.2018.05.013.
[29] Shimada H,Ikegaki N.Neuroblastoma and neuroblastic tumors[M]//Furtado LV,Husain AN.Precision Molecular Pathology of Neoplastic Pediatric Diseases.Cham:Springer,2018:151-168.
[30] Berry-Kravis EM,Zhou LL,Rand CM,et al.Congenital central hypoventilation syndrome:PHOX2B mutations and phenotype[J].Am J Respir Crit Care Med,2006,174(10):1139-1144.DOI:10.1164/rccm.200602-305OC.
[31] Yang LQ,Ke XX,Xuan F,et al.PHOX2B is associated with neuroblastoma cell differentiation[J].Cancer Biother Radiopharm,2016,31(2):44-51.DOI:10.1089/cbr.2015.1952.
[32] Gross AM,Frone M,Gripp KW,et al.Advancing RAS/RASopathy therapies:an NCI-sponsored intramural and extramural collaboration for the study of RASopathies[J].Am J Med Genet A,2020,182(4):866-876.DOI:10.1002/ajmg.a.61485.
[33] Hebron KE,Hernandez ER,Yohe ME.The RASopathies:from pathogenetics to therapeutics[J].Dis Model Mech,2022,15(2):dmm049107.DOI:10.1242/dmm.049107.
[34] Rauen KA.Defining RASopathy[J].Dis Model Mech,2022,15(2):dmm049344.DOI:10.1242/dmm.049344.
[35] Riller Q,Rieux-Laucat F.RASopathies:from germline mutations to somatic and multigenic diseases[J].Biomed J,2021,44(4):422-432.DOI:10.1016/j.bj.2021.06.004.
[36] Mlakar V,Morel E,Mlakar SJ,et al.A review of the biological and clinical implications of RAS-MAPK pathway alterations in neuroblastoma[J].J Exp Clin Cancer Res,2021,40(1):189.DOI:10.1186/s13046-021-01967-x.
[37] Tartaglia M,Gelb BD.Noonan syndrome and related disorders:genetics and pathogenesis[J].Annu Rev Genomics Hum Genet,2005,6:45-68.DOI:10.1146/annurev.genom.6.080604.162305.
[38] Zhang XL,Dong ZW,Zhang C,et al.Critical role for GAB2 in neuroblastoma pathogenesis through the promotion of SHP2/MYCN cooperation[J].Cell Rep,2017,18(12):2932-2942.DOI:10.1016/j.celrep.2017.02.065.
[39] Ly KI,Blakeley JO.The diagnosis and management of neurofibromatosis type 1[J].Med Clin North Am,2019,103(6):1035-1054.DOI:10.1016/j.mcna.2019.07.004.
[40] Brioude F,Toutain A,Giabicani E,et al.Overgrowth syndromes-clinical and molecular aspects and tumour risk[J].Nat Rev Endocrinol,2019,15(5):299-311.DOI:10.1038/s41574-019-0180-z.
[41] Li YH,Donnelly CG,Rivera RM.Overgrowth syndrome[J].Vet Clin North Am Food Anim Pract,2019,35(2):265-276.DOI:10.1016/j.cvfa.2019.02.007.
[42] Harris JR,Fahrner JA.Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype[J].Curr Opin Psychiatry,2019,32(2):55-59.DOI:10.1097/YCO.0000000000000481.
[43] Manor J,Lalani SR.Overgrowth syndromes-evaluation,diagnosis,and management[J].Front Pediatr,2020,8:574857.DOI:10.3389/fped.2020.574857.
[44] Berdasco M,Ropero S,Setien F,et al.Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma[J].Proc Natl Acad Sci USA,2009,106(51):21830-21835.DOI:10.1073/pnas.0906831106.
[45] Fontana L,Tabano S,Maitz S,et al.Clinical and molecular diagnosis of Beckwith-Wiedemann syndrome with single-or multi-locus imprinting disturbance[J].Int J Mol Sci,2021,22(7):3445.DOI:10.3390/ijms22073445.
[46] Eggermann T,Maher ER,Kratz CP,et al.Molecular basis of Beckwith-Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice[J].Cancers (Basel),2022,14(13):3083.DOI:10.3390/cancers14133083.
[47] Xu HL,Liu C,Yi M,et al.Neuroblastoma in a boy with Simpson-Golabi-Behmel syndrome[J].Chin J Pediatr,2022,60(3):244-245.DOI:10.3760/cma.j.cn112140-20210708-00565.
相似文献/References:
[1]郭春宝,王珊,金先庆,等.Cochrane系统评价方法对神经母细胞瘤分子与生物标记物的Meta分析[J].临床小儿外科杂志,2008,7(01):2.
[2]未德成,王忠荣,张燕敏,等.脂氧合酶抑制剂NDGA对人神经母细胞瘤SK-N-SH细胞生物学特性的影响[J].临床小儿外科杂志,2008,7(01):3.
[3]陈新让,王家祥,余捷凯,等.基于支持向量机神经母细胞瘤血清蛋白质标记物的检测及临床应用[J].临床小儿外科杂志,2008,7(02):12.
[4]罗远建,金科,甘青,等.儿童神经母细胞瘤的影像学表现[J].临床小儿外科杂志,2007,6(02):22.
[5]李昆昆 金先庆 牟廷刚 陈建飞 赵利华 丁雄辉 孙艳辉 王士奇. ATRA耐药基因HA117相关蛋白在四种恶性肿瘤的表达及临床意义[J].临床小儿外科杂志,2011,10(04):250.
[J].Journal of Clinical Pediatric Surgery,2011,10(04):250.
[6]沙永亮 吴晔明. 化疗及非化疗组神经母细胞瘤干细胞标志物的表达及意义[J].临床小儿外科杂志,2011,10(04):254.
[J].Journal of Clinical Pediatric Surgery,2011,10(04):254.
[7]刘涛 韩英 祝秀丹 王焕民 秦红 邹焱. Wnt—5a基因在神经母细胞瘤中的表达及意义[J].临床小儿外科杂志,2011,10(05):333.
[J].Journal of Clinical Pediatric Surgery,2011,10(04):333.
[8]顾 涛 鹿洪亭 董 蒨.Kai1/CD82表达水平与神经母细胞瘤转移的关系探讨[J].临床小儿外科杂志,2013,12(02):100.[doi:10.3969/j.issn.1671— 6353.2013.02.007]
GU Tao,LU Hong-ting,DONG Qian.The relationship between Kai1/CD82 expression and metastasis of neuroblastoma[J].Journal of Clinical Pediatric Surgery,2013,12(04):100.[doi:10.3969/j.issn.1671— 6353.2013.02.007]
[9]邢莉莉,吴晔明,张弛.熊果酸对神经母细胞瘤细胞增殖凋亡及 MYCN表达的影响[J].临床小儿外科杂志,2013,12(03):196.[doi:10.3969/j.issn.1671—6353.2013.03.010]
XING Li li,WU Ye ming,ZHANG Chi..Ursolic acid effects proliferation、apoptosis and MYCN expression of neuroblastoma cell[J].Journal of Clinical Pediatric Surgery,2013,12(04):196.[doi:10.3969/j.issn.1671—6353.2013.03.010]
[10]张雁冰 刘朝阳 卢其 周小渔. RNA干扰对神经母细胞瘤细胞VEGFA的mRNA表达的影响[J].临床小儿外科杂志,2013,12(06):471.
备注/Memo
收稿日期:2023-7-3。
基金项目:国家自然科学基金项目(82272034、81971642、82302235);北京市自然科学基金(7234359);首都医科大学附属北京友谊医院种子计划(YYZZ202337)
通讯作者:杨吉刚,Email:yangjigang@ccmu.edu.cn