父系遗传的WT1突变加上11p单亲二体可能是WT1突变型家族性肾母细胞瘤发生发展的重要机制。 - Suppr

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超能文献

Paternally inherited WT1 mutation plus uniparental disomy of 11p may be an essential mechanism for development of WT1-mutated familial Wilms tumor.

作者信息

Sato Yuya, Haruta Masayuki, Kaneko Yasuhiko, Nakasato Yoshimasa, Kurosawa Hidemitsu, Yoshihara Shigemi

机构信息

Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Tochigi, Japan.

Department of Cancer Diagnosis, Research Institute for Clinical Oncology, Saitama Cancer Center, Ina, Saitama, Japan.

出版信息

Pediatr Blood Cancer. 2019 Jan;66(1):e27442. doi: 10.1002/pbc.27442. Epub 2018 Sep 16.

DOI:10.1002/pbc.27442

PMID:30221469

Abstract

摘要

相似文献

Paternally inherited WT1 mutation plus uniparental disomy of 11p may be an essential mechanism for development of WT1-mutated familial Wilms tumor.

Pediatr Blood Cancer. 2019 Jan;66(1):e27442. doi: 10.1002/pbc.27442. Epub 2018 Sep 16.

Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers.

Pediatr Blood Cancer. 2018 Nov;65(11):e27301. doi: 10.1002/pbc.27301. Epub 2018 Jul 3.

A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.

Pediatr Res. 2001 Sep;50(3):337-44. doi: 10.1203/00006450-200109000-00008.

Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

Am J Med Genet A. 2013 May;161A(5):958-64. doi: 10.1002/ajmg.a.35818. Epub 2013 Mar 13.

A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.

Br J Cancer. 2015 Mar 17;112(6):1121-33. doi: 10.1038/bjc.2015.13.

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

PLoS One. 2016 May 23;11(5):e0155561. doi: 10.1371/journal.pone.0155561. eCollection 2016.

Stratification of Wilms tumor by genetic and epigenetic analysis.

Oncotarget. 2012 Mar;3(3):327-35. doi: 10.18632/oncotarget.468.

Familial Wilms' tumor associated with a WT1 zinc finger mutation.

Genomics. 1996 Dec 15;38(3):451-3. doi: 10.1006/geno.1996.0655.

Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy.

Am J Kidney Dis. 2005 Jun;45(6):1100-4. doi: 10.1053/j.ajkd.2005.03.013.

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1.

J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e180-e183. doi: 10.1097/MPH.0000000000001697.

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Paternally inherited WT1 mutation plus uniparental disomy of 11p may be an essential mechanism for development of WT1-mutated familial Wilms tumor.

作者信息

Sato Yuya, Haruta Masayuki, Kaneko Yasuhiko, Nakasato Yoshimasa, Kurosawa Hidemitsu, Yoshihara Shigemi

机构信息

Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Tochigi, Japan.

Department of Cancer Diagnosis, Research Institute for Clinical Oncology, Saitama Cancer Center, Ina, Saitama, Japan.

出版信息

Pediatr Blood Cancer. 2019 Jan;66(1):e27442. doi: 10.1002/pbc.27442. Epub 2018 Sep 16.

DOI:10.1002/pbc.27442

PMID:30221469

Abstract

摘要

相似文献

Paternally inherited WT1 mutation plus uniparental disomy of 11p may be an essential mechanism for development of WT1-mutated familial Wilms tumor.

Pediatr Blood Cancer. 2019 Jan;66(1):e27442. doi: 10.1002/pbc.27442. Epub 2018 Sep 16.

Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers.

Pediatr Blood Cancer. 2018 Nov;65(11):e27301. doi: 10.1002/pbc.27301. Epub 2018 Jul 3.

A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.

Pediatr Res. 2001 Sep;50(3):337-44. doi: 10.1203/00006450-200109000-00008.

Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

Am J Med Genet A. 2013 May;161A(5):958-64. doi: 10.1002/ajmg.a.35818. Epub 2013 Mar 13.

A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.

Br J Cancer. 2015 Mar 17;112(6):1121-33. doi: 10.1038/bjc.2015.13.

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

PLoS One. 2016 May 23;11(5):e0155561. doi: 10.1371/journal.pone.0155561. eCollection 2016.

Stratification of Wilms tumor by genetic and epigenetic analysis.

Oncotarget. 2012 Mar;3(3):327-35. doi: 10.18632/oncotarget.468.

Familial Wilms' tumor associated with a WT1 zinc finger mutation.

Genomics. 1996 Dec 15;38(3):451-3. doi: 10.1006/geno.1996.0655.

Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy.

Am J Kidney Dis. 2005 Jun;45(6):1100-4. doi: 10.1053/j.ajkd.2005.03.013.

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1.

J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e180-e183. doi: 10.1097/MPH.0000000000001697.