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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Bibliographic Details
Published in:Diagnostics (Basel) Vol. 10; no. 12; p. 1067
Main Authors: Gawrychowska, Ada, Iżycka-Świeszewska, Ewa, Lipska-Ziętkiewicz, Beata S, Kuleszo, Dominika, Bautembach-Minkowska, Joanna, Łosin, Marcin, Stefanowicz, Joanna
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 10-12-2020
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Summary: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.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics10121067