Dysgerminoma with a Somatic Exon 17 <i>KIT</i> Mutation and SHH Pathway Activation in a Girl with Turner Syndrome
Ada Gawrychowska,
Ewa Iżycka-Świeszewska,
Beata S. Lipska-Ziętkiewicz,
Dominika Kuleszo,
Joanna Bautembach-Minkowska,
Marcin Łosin,
Joanna Stefanowicz
Affiliations
Ada Gawrychowska
Department of Paediatrics, Haematology and Oncology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland
Ewa Iżycka-Świeszewska
Department of Pathology and Neuropathology, Faculty of Health Sciences, Medical University of Gdansk, 3a Maria Sklodowska-Curie Street, 80-210 Gdansk, Poland
Beata S. Lipska-Ziętkiewicz
Centre for Rare Diseases, Medical University of Gdansk, 7 Debinki Street, 80-952 Gdansk, Poland
Dominika Kuleszo
Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland
Joanna Bautembach-Minkowska
Department of Paediatrics, Diabetology and Endocrinology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland
Marcin Łosin
Department of Surgery and Urology for Children and Adolescents, Faculty of Medicine, Medical University of Gdansk, 1-6 Nowe Ogrody Street, 80-803 Gdansk, Poland
Joanna Stefanowicz
Department of Paediatrics, Haematology and Oncology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland
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.
