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Wilms Tumor 1 Gene Syndromes

MedGen UID:
1374854
•Concept ID:
C4331759
•
Disease or Syndrome
Synonym: WT1 Gene Syndromes

Definition

A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. Patients with this mutation may have a predisposition to developing Wilms tumors. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWilms Tumor 1 Gene Syndromes

Professional guidelines

PubMed

Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.
Sun S, Xu L, Bi Y, Wang J, Zhang Z, Tang X, Cao Q, Zhai Y, Chen J, Fang X, Liu J, Fang Y, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Shen J, Dong K, Liu X, Zheng B, Zhang A, Wang X, Wu Y, Ma D, Shen Q, Rao J, Xu H
Eur J Med Genet 2020 Nov;63(11):104047. Epub 2020 Sep 4 doi: 10.1016/j.ejmg.2020.104047. PMID: 32891756
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Genetic testing and tumor surveillance for children with cancer predisposition syndromes.
Rao A, Rothman J, Nichols KE
Curr Opin Pediatr 2008 Feb;20(1):1-7. doi: 10.1097/MOP.0b013e3282f4249a. PMID: 18197032

Recent clinical studies

Etiology

Recent advances in Wilms' tumor predisposition.
Maciaszek JL, Oak N, Nichols KE
Hum Mol Genet 2020 Oct 20;29(R2):R138-R149. doi: 10.1093/hmg/ddaa091. PMID: 32412586
Wilms' tumor 1 gene in hematopoietic malignancies: clinical implications and future directions.
Luo P, Jing W, Yi K, Wu S, Zhou F
Leuk Lymphoma 2020 Sep;61(9):2059-2067. Epub 2020 May 13 doi: 10.1080/10428194.2020.1762884. PMID: 32401109
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article
Wilms' tumor.
Martínez CH, Dave S, Izawa J
Adv Exp Med Biol 2010;685:196-209. PMID: 20687507
Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Smith AC
Am J Med Genet C Semin Med Genet 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058. PMID: 16010676

Diagnosis

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ
J Clin Oncol 2022 Jun 10;40(17):1892-1902. Epub 2022 Mar 1 doi: 10.1200/JCO.21.02510. PMID: 35230882Free PMC Article
Recent advances in Wilms' tumor predisposition.
Maciaszek JL, Oak N, Nichols KE
Hum Mol Genet 2020 Oct 20;29(R2):R138-R149. doi: 10.1093/hmg/ddaa091. PMID: 32412586
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M
Pediatr Nephrol 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24 doi: 10.1007/s00467-016-3343-3. PMID: 27011217Free PMC Article
Renal dysplasia.
Chen RY, Chang H
Arch Pathol Lab Med 2015 Apr;139(4):547-51. doi: 10.5858/arpa.2013-0660-RS. PMID: 25822765
Overgrowth syndromes.
Neylon OM, Werther GA, Sabin MA
Curr Opin Pediatr 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. PMID: 22705997

Therapy

Phase 1/2 study evaluating the safety and efficacy of DSP-7888 dosing emulsion in myelodysplastic syndromes.
Ueda Y, Usuki K, Fujita J, Matsumura I, Aotsuka N, Sekiguchi N, Nakazato T, Iwasaki H, Takahara-Matsubara M, Sugimoto S, Goto M, Naoe T, Kizaki M, Miyazaki Y, Aakashi K
Cancer Sci 2022 Apr;113(4):1377-1392. Epub 2022 Mar 9 doi: 10.1111/cas.15245. PMID: 34932235Free PMC Article
Wilms' Tumor Gene 1 (WT1) Peptide Vaccine Therapy for Hematological Malignancies: From CTL Epitope Identification to Recent Progress in Clinical Studies Including a Cure-Oriented Strategy.
Oka Y, Tsuboi A, Nakata J, Nishida S, Hosen N, Kumanogoh A, Oji Y, Sugiyama H
Oncol Res Treat 2017;40(11):682-690. Epub 2017 Oct 18 doi: 10.1159/000481353. PMID: 29041012
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P
Mol Cell Biochem 2017 Feb;426(1-2):177-181. Epub 2016 Nov 25 doi: 10.1007/s11010-016-2889-5. PMID: 27885584
Wilms tumor gene 1 expression as a predictive marker for relapse and survival after hematopoietic stem cell transplantation for myelodysplastic syndromes.
Yoon JH, Jeon YW, Yahng SA, Shin SH, Lee SE, Cho BS, Lee DG, Eom KS, Kim HJ, Lee S, Min CK, Cho SG, Kim Y, Kim DW, Lee JW, Han K, Min WS, Park CW, Kim M, Kim YJ
Biol Blood Marrow Transplant 2015 Mar;21(3):460-7. Epub 2014 Nov 20 doi: 10.1016/j.bbmt.2014.11.008. PMID: 25460359
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.
Rump P, Zeegers MP, van Essen AJ
Am J Med Genet A 2005 Jul 1;136(1):95-104. doi: 10.1002/ajmg.a.30729. PMID: 15887271

Prognosis

Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
Wilms' tumor 1 gene in hematopoietic malignancies: clinical implications and future directions.
Luo P, Jing W, Yi K, Wu S, Zhou F
Leuk Lymphoma 2020 Sep;61(9):2059-2067. Epub 2020 May 13 doi: 10.1080/10428194.2020.1762884. PMID: 32401109
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F
J Am Soc Nephrol 2015 Jun;26(6):1279-89. Epub 2014 Oct 27 doi: 10.1681/ASN.2014050489. PMID: 25349199Free PMC Article
Overgrowth syndromes.
Neylon OM, Werther GA, Sabin MA
Curr Opin Pediatr 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. PMID: 22705997
Wilms' tumor.
Martínez CH, Dave S, Izawa J
Adv Exp Med Biol 2010;685:196-209. PMID: 20687507

Clinical prediction guides

Spontaneous xenogeneic GvHD in Wilms' tumor Patient-Derived xenograft models and potential solutions.
Monzavi SM, Muhammadnejad A, Behfar M, Khorsand AA, Muhammadnejad S, Kajbafzadeh AM
Animal Model Exp Med 2022 Dec;5(4):389-396. Epub 2022 Jun 20 doi: 10.1002/ame2.12254. PMID: 35726155Free PMC Article
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
Heterogeneity of human WT1 gene.
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
The molecular genetics of Wilms tumor: a paradigm of heterogeneity in tumor development.
Gerald WL
Cancer Invest 1994;12(3):350-9. doi: 10.3109/07357909409023035. PMID: 8187013
Lessons from our children.
Donaldson SS
Int J Radiat Oncol Biol Phys 1993 Aug 1;26(5):739-49. doi: 10.1016/0360-3016(93)90487-g. PMID: 8344841

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