|Table of Contents|

Value of DNA sequencing in peripheral blood of adult patients with tuberous sclerosis complex-renal angiomyolipoma

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2022 04
Page:
667-671
Research Field:
Publishing date:

Info

Title:
Value of DNA sequencing in peripheral blood of adult patients with tuberous sclerosis complex-renal angiomyolipoma
Author(s):
NI Jianxin1; YAN Fengqi2; HAO Chunlin1; GUO Boxin3; WU Guojun3
1.Department of Urology,the First Affiliated Hospital of the Air Force Medical University,Shaanxi Xi'an 710000,China;2.Department of Urology,the Second Affiliated Hospital of the Air Force Medical University,Shaanxi Xi'an 710000,China;3.Xi'an People's Hospital(Xi'an Fourth Hospital),Shaanxi Xi'an 710000,China.
Keywords:
tuberous sclerosis complex; renal angiomyolipoma; next-generation sequencing
PACS:
R737.1
DOI:
10.3969/j.issn.1672-4992.2022.04.022
Abstract:
Objective:To evaluate the value of DNA sequencing in peripheral blood of adult patients with tuberous sclerosis complex-renal angiomyolipoma.Methods:To analyze the history,family history and auxiliary examination of all patients who were hospitalized in our hospital from September 2015 to September 2019 due to multiple renal angiomyolipomas,extract the peripheral blood DNA of patients who meet the diagnostic criteria of tuberous sclerosis complex,and detect the TSC1 and TSC2 genes by next-generation Sequencing.Results:A total of 47 patients were included in the study,and 22 patients(46.8%) detected mutations in the TSC1/2 gene.Among patients with mutations detected,the proportion of the largest renal angiomyolipomas exceeding 8 cm in diameter was significantly higher than that of those not exceeding,and the difference was statistically significant(P＜0.05).26 mutation sites were detected in the mutant patients,and the main mutation type was missense mutation,of which 13 were not reported.Conclusion:TSC1/2 gene mutation may not be detected in a large proportion of peripheral blood DNA sequencing of adult patients with tuberous sclerosis complex-renal angiomyolipoma,and it is easier to detect mutations in peripheral blood DNA of patients with severe renal angiomyolipoma.A large proportion of adult patients with tuberous sclerosis complex-renal angiomyolipoma may be chimeras with somatic mutations.Gene sequencing can not only extract DNA samples from their peripheral blood.

References:

[1]GOMEZ MR.Varieties of expression of tuberous sclerosis［J］.Neurofibromatosis,1988,1(5-6):330-338.
[2]CURATOLO P,BOMBARDIERI R,JOZWIAK S.Tuberous sclerosis［J］.Lancet,2008,372(9639):657-668.
[3]DEVLIN LA,SHEPHERD CH,CRAWFORD H,et al.Tuberous sclerosis complex:clinical features,diagnosis,and prevalence within Northern Ireland［J］.Dev Med Child Neurol,2006,48(6):495-499.
[4]HONG CH,DARLING TN,LEE CH.Prevalence of tuberous sclerosis complex in Taiwan:a national population-based study［J］.Neuroepidemiology,2009,33(4):335-341.
[5]HENSKE EP,JOZWIAK S,KINGSWOOD JC,et al.Tuberous sclerosis complex［J］.Nat Rev Dis Primers,2016,2:16035.
[6]KWIATKOWSKI DJ,MANNING BD.Molecular basis of giant cells in tuberous sclerosis complex［J］.N Engl J Med,2014,371(8):778-780.
[7]LAGUNA MP.Re:everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis(EXIST-2):a multicentre,randomised,double-blind,placebo-controlled trial［J］.J Urol,2014,191(3):626-627.
[8]NORTHRUP H,KRUEGER DA.International tuberous sclerosis complex consensus group.tuberous sclerosis complex diagnostic criteria update:recommendations of the 2012 iinternational tuberous sclerosis complex consensus conference［J］.Pediatr Neurol,2013,49(4):243-254.
[9]中国抗癌协会泌尿男生殖系肿瘤专业委员会结节性硬化协作组.结节性硬化症相关肾血管平滑肌脂肪瘤诊疗与管理专家共识［J］.中国癌症杂志,2020,30(01):70-78. Tuberous Sclerosis Cooperation Group of Urological and Reproductive Tumor Professional Committee of China Anticancer Association.Expert consensus on diagnosis, treatment and management of tuberous sclerosis associated renal angiomyolipoma［J］.Chinese Journal of cancer,2020,30(01):70-78.
[10]NI J,YAN F,QIN W,et al.Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy［J］.Sci Rep,2019,9(1):14337.
[11]AU KS,WILLIAMS AT,ROACH ES,et al.Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States［J］.Genet Med,2007,9(2):88-100.
[12]LAM HC,NIJMEH J,HENSKE EP.New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex［J］.J Pathol,2017,241(2):219-225.
[13]TYBURCZY ME,DIES KA,GLASS J,et al.Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing［J］.PLoS Genet,2015,11(11):e1005637.
[14]TENG JM,COWEN EW,WATAYA-KANEDA M,et al.Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements［J］.JAMA Dermatol,2014,150(10):1095-1101.
[15]JOZWIAK J,SONTOWSKA I,PTOSKI R.Frequency of TSC1 and TSC2 mutations in American,British,Polish and Taiwanese populations［J］.Mol Med Rep,2013,8(3):909-913.
[16]TAYLOR JC,MARTIN HC,LISE S,et al.Factors influencing success of clinical genome sequencing across a broad spectrum of disorders［J］.Nat Genet,2015,47(7):717-726.
[17]JIANGYI W,GANG G,GUOHAI S,et al.Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients［J］.Aging(Albany NY),2020,12(1):756-766.
[18]YU T,HE Y,LI N,et al.Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex［J］.Clin Neurol Neurosurg,2017,154:104-108.

Memo

Memo:
National Natural Science Foundation of China(No.82002686）;国家自然科学基金资助项目（编号：82002686）
Last Update: 1900-01-01