Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
oleh: Ada Gawrychowska, Ewa Iżycka-Świeszewska, Beata S. Lipska-Ziętkiewicz, Dominika Kuleszo, Joanna Bautembach-Minkowska, Marcin Łosin, Joanna Stefanowicz
| Format: | Article |
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| Diterbitkan: | MDPI AG 2020-12-01 |
Deskripsi
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.