Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations

Congenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome...

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Autores principales: Murakami, Ken, Yamaguchi, Yuuta, Kida, Yuko, Morikawa, Yoichiro, Ujiie, Hidetoshi, Sugahara, Hiroyuki, Nannya, Yasuhito, Ogawa, Seishi, Kanakura, Yuzuru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710374/
https://www.ncbi.nlm.nih.gov/pubmed/34053991
http://dx.doi.org/10.2169/internalmedicine.7571-21
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author Murakami, Ken
Yamaguchi, Yuuta
Kida, Yuko
Morikawa, Yoichiro
Ujiie, Hidetoshi
Sugahara, Hiroyuki
Nannya, Yasuhito
Ogawa, Seishi
Kanakura, Yuzuru
author_facet Murakami, Ken
Yamaguchi, Yuuta
Kida, Yuko
Morikawa, Yoichiro
Ujiie, Hidetoshi
Sugahara, Hiroyuki
Nannya, Yasuhito
Ogawa, Seishi
Kanakura, Yuzuru
author_sort Murakami, Ken
collection PubMed
description Congenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome, congenital WT1 mutations have not been reported in hematological disorders. We herein report a patient with early-onset clonal cytopenia of undetermined significance that was associated with a congenital mutation of WT1 and an acquired mutation of DNMT3A [encoding DNA (cytosine-5)-methyltransferase 3A].
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spelling pubmed-87103742022-01-25 Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations Murakami, Ken Yamaguchi, Yuuta Kida, Yuko Morikawa, Yoichiro Ujiie, Hidetoshi Sugahara, Hiroyuki Nannya, Yasuhito Ogawa, Seishi Kanakura, Yuzuru Intern Med Case Report Congenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome, congenital WT1 mutations have not been reported in hematological disorders. We herein report a patient with early-onset clonal cytopenia of undetermined significance that was associated with a congenital mutation of WT1 and an acquired mutation of DNMT3A [encoding DNA (cytosine-5)-methyltransferase 3A]. The Japanese Society of Internal Medicine 2021-05-29 2021-12-01 /pmc/articles/PMC8710374/ /pubmed/34053991 http://dx.doi.org/10.2169/internalmedicine.7571-21 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Murakami, Ken
Yamaguchi, Yuuta
Kida, Yuko
Morikawa, Yoichiro
Ujiie, Hidetoshi
Sugahara, Hiroyuki
Nannya, Yasuhito
Ogawa, Seishi
Kanakura, Yuzuru
Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title_full Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title_fullStr Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title_full_unstemmed Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title_short Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations
title_sort clonal cytopenia of undetermined significance in a patient with congenital wilms' tumor 1 and acquired dnmt3a gene mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710374/
https://www.ncbi.nlm.nih.gov/pubmed/34053991
http://dx.doi.org/10.2169/internalmedicine.7571-21
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