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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Published in: | Diagnostics (Basel) Vol. 10; no. 12; p. 1067 |
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Main Authors: | , , , , , , |
Format: | Journal Article |
Language: | English |
Published: |
Switzerland
MDPI AG
10-12-2020
MDPI |
Subjects: | |
Online Access: | Get full text |
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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. |
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ISSN: | 2075-4418 2075-4418 |
DOI: | 10.3390/diagnostics10121067 |