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 in | Cancer reports Vol. 5; no. 5; pp. e1512 - n/a |
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Main Authors | , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
John Wiley & Sons, Inc
01.05.2022
John Wiley and Sons Inc Wiley |
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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. |
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AbstractList | Abstract
Background
Mulibrey‐Nanism (
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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 |
AuthorAffiliation_xml | – name: 1 Pediatric Hematology Oncology and Bone Marrow Transplant Unit, Cancer Institute Medanta The Medicity Hospital Gurgaon Haryana India – name: 5 Department of Electrophysiology and Pacing, Heart Institute Medanta The Medicity Gurgaon Haryana India – name: 4 Pediatric Intensive Care Unit, Department of Pediatrics Medanta The Medicity Gurgaon Haryana India – name: 2 Department of Pathology Medanta The Medicity Gurgaon Haryana India – name: 3 Department of Pediatric Cardiology Medanta The Medicity Gurgaon Haryana India – name: 7 Division of Radiology Medanta The Medicity Gurgaon Haryana India – name: 6 MedGenome Labs Ltd. Bangalore Karnataka 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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Keywords | Mulibrey Nanism atrial septal defect atrial flutter Wilms tumor |
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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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