Zhu Linfeng,Shen Yiding,Fu Junfen.Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature[J].Journal of Clinical Pediatric Surgery,,21():789-794.[doi:10.3760/cma.j.cn101785-202106025-016]
Click Copy

Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature

References:

[1] Moch H,Cubilla AL,Humphrey PA,et al.The 2016 WHO classification of tumours of the urinary system and male genital organs-part a:renal,penile,and testicular tumours[J].Eur Urol,2016,70(1):93-105.DOI:10.1016/j.eururo.2016.02.029.
[2] Priest JR,Watterson J,Strong L,et al.Pleuropulmonary blastoma:a marker for familial disease[J].J Pediatr,1996,128(2):220-224.DOI:10.1016/s0022-3476(96)70393-1.
[3] Boman F,Hill DA,Williams GM,et al.Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors:a report from the international pleuropulmonary blastoma registry[J].J Pediatr,2006,149(6):850-854.DOI:10.1016/j.jpeds.2006.08.068.
[4] Hill DA,Ivanovich J,Priest JR,et al.DICER1 mutations in familial pleuropulmonary blastoma[J].Science,2009,325(5943):965.DOI:10.1126/science.1174334.
[5] Doros LA,Rossi CT,Yang J,et al.DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma[J].Mod Pathol,2014,27(9):1267-1280.DOI:10.1038/modpathol.2013.242.
[6] de Kock L,Druker H,Weber E,et al.Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome[J].Hum Pathol,2015,46(6):917-922.DOI:10.1016/j.humpath.2015.02.008.
[7] Wu MK,Cotter MB,Pears J,et al.Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney[J].Hum Pathol,2016,53:114-120.DOI:10.1016/j.humpath.2016.03.002.
[8] Fernández-Martínez L,Villegas JA,Santamaría I’,et al.Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma,cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree[J].BMC Cancer,2017,17(1):146.DOI:10.1186/s12885-017-3136-5.
[9] Saskin A,de Kock L,Sabbaghian N,et al.A case of neuroblastoma in DICER1 syndrome:Chance finding or noncanonical causation?[J].Pediatr Blood Cancer,2018,65(1).DOI:10.1002/pbc.26715.
[10] de Kock L,Geoffrion D,Rivera B,et al.Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion[J].Genes Chromosomes Cancer,2018,57(5):223-230.DOI:10.1002/gcc.22523.
[11] Apellaniz-Ruiz M,Cullinan N,Grant R,et al.DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma[J].J Pathol Clin Res,2020,6(3):185-194.DOI:10.1002/cjp2.164.
[12] Kian R,Moradi S,Ghorbian S.Role of components of microRNA machinery in carcinogenesis[J].Exp Oncol,2018,40(1):2-9.
[13] Bartel DP.MicroRNAs:genomics,biogenesis,mechanism,and function[J].Cell,2004,116(2):281-297.DOI:10.1016/s0092-8674(04)00045-5.
[14] Pontén E,Frisk S,Taylan F,et al.A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1[J].J Med Genet,2022,59(2):141-146.DOI:10.1136/jmedgenet-2020-107385.
[15] Klein SD,Martinez-Agosto JA.Hotspot mutations in DICER1 causing GLOW syndrome-associated macrocephaly via modulation of specific microRNA populations result in the activation of PI3K/ATK/mTOR signaling[J].Microrna,2020,9(1):70-80.DOI:10.2174/2211536608666190624114424.
[16] Kim J,Field A,Schultz K,et al.The prevalence of DICER1 pathogenic variation in population databases[J].Int J Cancer,2017,141(10):2030-2036.DOI:10.1002/ijc.30907.
[17] Stewart DR,Best AF,Williams GM,et al.Neoplasm risk among individuals with a pathogenic germline variant in DICER1[J].J Clin Oncol,2019,37(8):668-676.DOI:10.1200/JCO.2018.78.4678.
[18] 张旭,曾骐,张娜,等.儿童胸膜肺母细胞瘤38例诊治分析[J].临床小儿外科杂志,2020,19(1):63-68.DOI:10.3969/j.issn.1671-6353.2020.01.013. Zhang X,Zeng Q,Zhang N,et al.Diagnosis and treatment of pediatric pleuropulmonary blastoma:a report of 38 cases[J].J Clin Ped Sur,2020,19(1):63-68.DOI:10.3969/j.issn.1671-6353.2020.01.013.
[19] Faure A,Atkinson J,Bouty A,et al.DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome:What the paediatric urologist needs to know[J].J Pediatr Urol,2016,12(1):5-10.DOI:10.1016/j.jpurol.2015.08.012.
[20] Caroleo AM,De Ioris MA,Boccuto L,et al.DICER1 syndrome and cancer predisposition:from a rare pediatric tumor to lifetime risk[J].Front Oncol,2020,10:614541.DOI:10.3389/fonc.2020.614541.
[21] 洪博,董瑞.肾母细胞瘤治疗研究进展[J].临床小儿外科杂志,2021,20(6):569-575.DOI:10.12260/lcxewkzz.2021.06.012. Hong B,Dong R.Research advances in the treatment of Wilms tumor[J].J Clin Ped Sur,2021,20(6):569-575.DOI:10.12260/lcxewkzz.2021.06.012.
[22] Vujani?GM,Gessler M,Ooms A,et al.The UMBRELLA SIOP-RTSG 2016 Wilms tumour pathology and molecular biology protocol[J].Nat Rev Urol,2018,15(11):693-701.DOI:10.1038/s41585-018-0100-3.
[23] 宋宏程,孙宁,张潍平,等.儿童囊性肾瘤和囊性部分分化型肾母细胞瘤的诊治分析[J].临床小儿外科杂志,2013,12(4):302-305.DOI:10.3969/j.issn.1671-6353.2013.04.014. Song HC,Sun N,Zhang WP,et al.Diagnosis and treatment of cystic nephroma and cystic partially differentiated nephroblastoma in children[J].J Clin Ped Sur,2013,12(4):302-305.DOI:10.3969/j.issn.1671-6353.2013.04.014.
[24] Schultz K,Williams GM,Kamihara J,et al.DICER1 and Associated Conditions:Identification of At-risk Individuals and Recommended Surveillance Strategies[J].Clin Cancer Res,2018,24(10):2251-2261.DOI:10.1158/1078-0432.CCR-17-3089.

Memo

收稿日期:2021-6-9。
基金项目:浙江省医药卫生科技计划临床研究应用项目(2022481900)
通讯作者:傅君芬,Email:fjf68@zju.edu.cn

Last Update: 1900-01-01