Wilms tumor with Mulibrey Nanism: A case report and review of literature

Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published...

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Published inCancer reports Vol. 5; no. 5; pp. e1512 - n/a
Main Authors Upasana, Karthik, Thakkar, Dhwanee, Gautam, Dheeraj, Sachdev, Manvinder Singh, Yadav, Anjali, Kapoor, Rohit, Raghunathan, Veena, Dhaliwal, Maninder Singh, Bhargava, Kartikeya, Nair, Sandhya, Sharma, Jaiprakash, Rastogi, Neha, Yadav, Satya Prakash
Format Journal Article
LanguageEnglish
Published United States John Wiley & Sons, Inc 01.05.2022
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Abstract Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL. Case Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi‐speciality care. He is alive and in remission at follow‐up of 6 months. Conclusion A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
AbstractList Abstract Background Mulibrey‐Nanism ( Mu scle‐ li ver‐ br ain‐ e ye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL. Case Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi‐speciality care. He is alive and in remission at follow‐up of 6 months. Conclusion A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL. Case Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi‐speciality care. He is alive and in remission at follow‐up of 6 months. Conclusion A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
BACKGROUNDMulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2-year-old boy with WT and MUL and present a review of literature on WT in MUL. CASEOur patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi-speciality care. He is alive and in remission at follow-up of 6 months. CONCLUSIONA total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL. Case Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi‐speciality care. He is alive and in remission at follow‐up of 6 months. Conclusion A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Abstract Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL. Case Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi‐speciality care. He is alive and in remission at follow‐up of 6 months. Conclusion A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2-year-old boy with WT and MUL and present a review of literature on WT in MUL. Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi-speciality care. He is alive and in remission at follow-up of 6 months. A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.
Author Thakkar, Dhwanee
Yadav, Satya Prakash
Kapoor, Rohit
Gautam, Dheeraj
Dhaliwal, Maninder Singh
Sharma, Jaiprakash
Upasana, Karthik
Yadav, Anjali
Nair, Sandhya
Bhargava, Kartikeya
Sachdev, Manvinder Singh
Rastogi, Neha
Raghunathan, Veena
AuthorAffiliation 5 Department of Electrophysiology and Pacing, Heart Institute Medanta The Medicity Gurgaon Haryana India
7 Division of Radiology Medanta The Medicity Gurgaon Haryana India
3 Department of Pediatric Cardiology Medanta The Medicity Gurgaon Haryana India
4 Pediatric Intensive Care Unit, Department of Pediatrics Medanta The Medicity Gurgaon Haryana India
6 MedGenome Labs Ltd. Bangalore Karnataka India
2 Department of Pathology Medanta The Medicity Gurgaon Haryana India
1 Pediatric Hematology Oncology and Bone Marrow Transplant Unit, Cancer Institute Medanta The Medicity Hospital Gurgaon Haryana India
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Cites_doi 10.3109/00365590903286689
10.1002/path.2538
10.1093/bioinformatics/bts526
10.1080/15548627.2018.1463120
10.1136/jmg.2003.014118
10.3390/ijms20010067
10.1093/nar/gkx1098
10.21037/jtd.2018.08.27
10.1093/bioinformatics/btq330
10.1093/omcr/omv065
10.1038/77053
10.1093/nar/gkt1229
10.1007/s00467-017-3669-5
10.1002/(SICI)1096-8628(19990702)85:1<76::AID-AJMG12>3.0.CO;2-Z
10.1016/S0925-4773(01)00491-9
10.1111/j.1399-0004.1980.tb00109.x
10.1161/01.CIR.0000070949.76608.E2
10.1136/bcr-2015-211429
10.1007/s00439-017-1779-6
10.1111/j.1399-0004.2006.00700.x
10.1038/nature13955
10.1093/nar/gkv1222
10.1007/s00439-002-0877-1
10.1086/340256
10.1002/ajmg.a.38381
10.1093/nar/gkn665
10.1007/s00246-006-0007-2
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Issue 5
Keywords Mulibrey Nanism
atrial septal defect
atrial flutter
Wilms tumor
Language English
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References 2006; 70
2004; 41
2009; 43
2014; 516
2000; 25
1999; 26
2017; 173
2001; 108
2009; 218
2017; 136
2003; 112
2018; 20
2018; 46
2014; 42
1980; 17
2007; 28
2009; 55
2010; 26
2003; 107
2017; 32
2015; 2015
2017
2002; 70
2012; 28
2015
2018; 10
2009; 37
2018; 14
2016; 44
e_1_2_11_10_1
e_1_2_11_31_1
e_1_2_11_30_1
e_1_2_11_14_1
e_1_2_11_13_1
e_1_2_11_12_1
e_1_2_11_11_1
e_1_2_11_7_1
e_1_2_11_29_1
e_1_2_11_6_1
e_1_2_11_28_1
e_1_2_11_5_1
e_1_2_11_27_1
e_1_2_11_4_1
e_1_2_11_26_1
e_1_2_11_3_1
e_1_2_11_2_1
Freed D (e_1_2_11_8_1) 2017
Husová L (e_1_2_11_18_1) 2009; 55
e_1_2_11_21_1
e_1_2_11_20_1
e_1_2_11_25_1
e_1_2_11_24_1
e_1_2_11_9_1
e_1_2_11_23_1
e_1_2_11_22_1
e_1_2_11_17_1
e_1_2_11_16_1
e_1_2_11_15_1
e_1_2_11_19_1
References_xml – volume: 107
  start-page: 2810
  issue: 22
  year: 2003
  end-page: 2815
  article-title: Mulibrey heart disease: clinical manifestations, long‐term course, and results of pericardiectomy in a series of 49 patients born before 1985
  publication-title: Circulation
– volume: 218
  start-page: 163
  issue: 2
  year: 2009
  end-page: 171
  article-title: High frequency of tumours in Mulibrey nanism
  publication-title: J Pathol
– year: 2015
  article-title: An adult with 3‐M syndrome
  publication-title: BMJ Case Rep
– volume: 2015
  start-page: 367
  issue: 12
  year: 2015
  end-page: 370
  article-title: Report of two Syrian siblings with Mulibrey nanism
  publication-title: Oxf Med Case Rep
– volume: 25
  start-page: 298
  issue: 3
  year: 2000
  end-page: 301
  article-title: Gene encoding a new RING‐B‐box‐coiled‐coil protein is mutated in mulibrey nanism
  publication-title: Nat Genet
– volume: 46
  start-page: D754
  issue: D1
  year: 2018
  end-page: D761
  article-title: Ensembl 2018
  publication-title: Nucleic Acids Res
– volume: 37
  start-page: D793
  year: 2009
  end-page: D796
  article-title: McKusick's online Mendelian inheritance in man (OMIM)
  publication-title: Nucleic Acids Res.
– volume: 516
  start-page: 116
  issue: 7529
  year: 2014
  end-page: 120
  article-title: TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein
  publication-title: Nature
– volume: 28
  start-page: 155
  year: 2007
  end-page: 162
  article-title: Cardiac dysfunction in children with Mulibrey Nanism
  publication-title: Pediatr Cardiol
– volume: 55
  start-page: 604
  issue: 6
  year: 2009
  end-page: 607
  article-title: Ascites in Mulibrey syndrome.
  publication-title: Vnitr Lek
– volume: 14
  issue: 9
  year: 2018
– volume: 136
  start-page: 665
  issue: 6
  year: 2017
  end-page: 677
  article-title: The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next‐generation sequencing studies
  publication-title: Hum Genet
– year: 2017
  article-title: The Sentieon genomics tools—A fast and accurate solution to variant calling from next‐generation sequence data
  publication-title: bioRxiv
– volume: 42
  start-page: D1001
  issue: D1
  year: 2014
  end-page: D1006
  article-title: The NHGRI GWAS catalog, a curated resource of SNP‐trait associations
  publication-title: Nucleic Acids Res
– volume: 108
  start-page: 221
  issue: 1
  year: 2001
  end-page: 225
  article-title: Expression of MUL, a gene encoding a novel RBCC family ring‐finger protein, in human and mouse embryogenesis
  publication-title: Mech Dev
– volume: 70
  start-page: 473
  issue: 6
  year: 2006
  end-page: 479
  article-title: Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism
  publication-title: Clin Genet
– volume: 26
  start-page: 76
  issue: 85
  year: 1999
  end-page: 78
  article-title: Mulibrey nanism and Wilms tumor
  publication-title: Am J Med Genet
– volume: 10
  start-page: S2940
  issue: 24
  year: 2018
  end-page: S2944
  article-title: Arrhythmias and conduction disorders associated with atrial septal defects
  publication-title: J Thorac Dis
– volume: 17
  start-page: 29
  issue: 1
  year: 1980
  end-page: 30
  article-title: A case of Mulibrey nanism with associated Wilms' tumor
  publication-title: Clin Genet
– volume: 43
  start-page: 476
  issue: 6
  year: 2009
  end-page: 481
  article-title: Segmental cystic kidney tumours in children
  publication-title: Scand J Urol Nephrol
– volume: 70
  start-page: 1215
  issue: 5
  year: 2002
  end-page: 1228
  article-title: The TRIM37 gene encodes a peroxisomal RING‐B‐box‐coiled‐coil protein: classification of Mulibrey Nanism as a new peroxisomal disorder
  publication-title: Am J Hum Genet
– volume: 44
  start-page: D862
  issue: D1
  year: 2016
  end-page: D868
  article-title: ClinVar: public archive of interpretations of clinically relevant variants
  publication-title: Nucleic Acids Res
– volume: 32
  start-page: 1531
  issue: 9
  year: 2017
  end-page: 1536
  article-title: Renal findings in patients with Mulibrey nanism
  publication-title: Pediatr Nephrol
– volume: 20
  start-page: 67
  issue: 1
  year: 2018
  article-title: TRIMming down to TRIM37: relevance to inflammation, cardiovascular disorders, and cancer in MULIBREY Nanism
  publication-title: IJMS
– volume: 26
  start-page: 2069
  issue: 16
  year: 2010
  end-page: 2070
  article-title: Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor
  publication-title: Bioinformatics
– volume: 112
  start-page: 470
  issue: 5
  year: 2003
  end-page: 526
  article-title: The Finnish disease heritage III: the individual diseases
  publication-title: Hum Genet
– volume: 28
  start-page: 2747
  issue: 21
  year: 2012
  end-page: 2754
  article-title: A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
  publication-title: Bioinformatics
– volume: 41
  start-page: 92
  issue: 2
  year: 2004
  end-page: 98
  article-title: Mulibrey nanism: clinical features and diagnostic criteria
  publication-title: J MED Genet
– volume: 173
  start-page: 2782
  issue: 10
  year: 2017
  end-page: 2788
  article-title: New intragenic rearrangements in non‐Finnish Mulibrey nanism
  publication-title: Am J Med Genet A
– ident: e_1_2_11_19_1
  doi: 10.3109/00365590903286689
– ident: e_1_2_11_21_1
  doi: 10.1002/path.2538
– ident: e_1_2_11_11_1
  doi: 10.1093/bioinformatics/bts526
– ident: e_1_2_11_25_1
  doi: 10.1080/15548627.2018.1463120
– ident: e_1_2_11_22_1
  doi: 10.1136/jmg.2003.014118
– ident: e_1_2_11_26_1
  doi: 10.3390/ijms20010067
– ident: e_1_2_11_10_1
  doi: 10.1093/nar/gkx1098
– ident: e_1_2_11_31_1
  doi: 10.21037/jtd.2018.08.27
– ident: e_1_2_11_9_1
  doi: 10.1093/bioinformatics/btq330
– ident: e_1_2_11_30_1
  doi: 10.1093/omcr/omv065
– ident: e_1_2_11_2_1
  doi: 10.1038/77053
– ident: e_1_2_11_14_1
  doi: 10.1093/nar/gkt1229
– ident: e_1_2_11_20_1
  doi: 10.1007/s00467-017-3669-5
– ident: e_1_2_11_16_1
  doi: 10.1002/(SICI)1096-8628(19990702)85:1<76::AID-AJMG12>3.0.CO;2-Z
– ident: e_1_2_11_3_1
  doi: 10.1016/S0925-4773(01)00491-9
– ident: e_1_2_11_7_1
  doi: 10.1111/j.1399-0004.1980.tb00109.x
– ident: e_1_2_11_28_1
  doi: 10.1161/01.CIR.0000070949.76608.E2
– ident: e_1_2_11_24_1
  doi: 10.1136/bcr-2015-211429
– year: 2017
  ident: e_1_2_11_8_1
  article-title: The Sentieon genomics tools—A fast and accurate solution to variant calling from next‐generation sequence data
  publication-title: bioRxiv
  contributor:
    fullname: Freed D
– ident: e_1_2_11_15_1
  doi: 10.1007/s00439-017-1779-6
– ident: e_1_2_11_6_1
– volume: 55
  start-page: 604
  issue: 6
  year: 2009
  ident: e_1_2_11_18_1
  article-title: Ascites in Mulibrey syndrome.
  publication-title: Vnitr Lek
  contributor:
    fullname: Husová L
– ident: e_1_2_11_17_1
  doi: 10.1111/j.1399-0004.2006.00700.x
– ident: e_1_2_11_27_1
  doi: 10.1038/nature13955
– ident: e_1_2_11_12_1
  doi: 10.1093/nar/gkv1222
– ident: e_1_2_11_23_1
  doi: 10.1007/s00439-002-0877-1
– ident: e_1_2_11_4_1
  doi: 10.1086/340256
– ident: e_1_2_11_5_1
  doi: 10.1002/ajmg.a.38381
– ident: e_1_2_11_13_1
  doi: 10.1093/nar/gkn665
– ident: e_1_2_11_29_1
  doi: 10.1007/s00246-006-0007-2
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Snippet Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these...
Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to...
Abstract Background Mulibrey‐Nanism ( Mu scle‐ li ver‐ br ain‐ e ye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation...
Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these...
BACKGROUNDMulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children...
Abstract Background Mulibrey‐Nanism (Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes...
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SubjectTerms Abdomen
atrial flutter
atrial septal defect
Biopsy
Case Report
Case Reports
Chemotherapy
COVID-19
Genes
Genetic testing
Genomes
Liver
Magnetic resonance imaging
Metastasis
Mulibrey Nanism
Mutation
Proteins
Signal transduction
Tomography
Wilms tumor
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Title Wilms tumor with Mulibrey Nanism: A case report and review of literature
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