Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the pres...

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Autores principales: Gawrychowska, Ada, Iżycka-Świeszewska, Ewa, Lipska-Ziętkiewicz, Beata S., Kuleszo, Dominika, Bautembach-Minkowska, Joanna, Łosin, Marcin, Stefanowicz, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763800/
https://www.ncbi.nlm.nih.gov/pubmed/33321690
http://dx.doi.org/10.3390/diagnostics10121067
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author Gawrychowska, Ada
Iżycka-Świeszewska, Ewa
Lipska-Ziętkiewicz, Beata S.
Kuleszo, Dominika
Bautembach-Minkowska, Joanna
Łosin, Marcin
Stefanowicz, Joanna
author_facet Gawrychowska, Ada
Iżycka-Świeszewska, Ewa
Lipska-Ziętkiewicz, Beata S.
Kuleszo, Dominika
Bautembach-Minkowska, Joanna
Łosin, Marcin
Stefanowicz, Joanna
author_sort Gawrychowska, Ada
collection PubMed
description This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.
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spelling pubmed-77638002020-12-27 Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome Gawrychowska, Ada Iżycka-Świeszewska, Ewa Lipska-Ziętkiewicz, Beata S. Kuleszo, Dominika Bautembach-Minkowska, Joanna Łosin, Marcin Stefanowicz, Joanna Diagnostics (Basel) Case Report This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway. MDPI 2020-12-10 /pmc/articles/PMC7763800/ /pubmed/33321690 http://dx.doi.org/10.3390/diagnostics10121067 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Gawrychowska, Ada
Iżycka-Świeszewska, Ewa
Lipska-Ziętkiewicz, Beata S.
Kuleszo, Dominika
Bautembach-Minkowska, Joanna
Łosin, Marcin
Stefanowicz, Joanna
Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title_full Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title_fullStr Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title_full_unstemmed Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title_short Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
title_sort dysgerminoma with a somatic exon 17 kit mutation and shh pathway activation in a girl with turner syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763800/
https://www.ncbi.nlm.nih.gov/pubmed/33321690
http://dx.doi.org/10.3390/diagnostics10121067
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