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Can I read Genomic Profiling of Primary and Recurrent Adult Granulosa Cell Tumors of the Ovary on EtoBox?
Genomic Profiling of Primary and Recurrent Adult Granulosa Cell Tumors of the Ovary by Arnaud Da Cruz Paula; Edaise M. da Silva; Sheila E. Segura; Fresia Pareja; Rui Bi; Pier Selenica; Sarah H. Kim; Lorenzo Ferrando; Mahsa Vahdatinia; Robert A. Soslow; August Vidal; Sonia Gatius; Christopher G. Przybycin; Nadeem R. Abu-Rustum; Xavier Matias-Guiu; Brian P. Rubin; Jorge S. Reis-Filho; Deborah F. DeLair; Britta Weigelt is a Medicine article available to read on EtoBox.
What is Genomic Profiling of Primary and Recurrent Adult Granulosa Cell Tumors of the Ovary about?
Adult-type granulosa cell tumor (aGCT) is a rare malignant ovarian sex cord-stromal tumor, harboring recurrent FOXL2 c.C402G/p.C134W hotspot mutations in 97% of cases. These tumors are considered to have a favorable prognosis, however aGCTs have a tendency for local spread and late recurrences, which are associated with poor survival rates. We sought to determine the genetic alterations associated with aGCT disease progression. We subjected primary non-recurrent aGCTs (n = 7), primary aGCTs that subsequently recurred (n = 9) and their matched recurrences (n = 9), and aGCT recurrences without matched primary tumors (n = 10) to targeted massively parallel sequencing of ≥410 cancer-related genes. In addition, three primary non-recurrent aGCTs and nine aGCT recurrences were subjected to FOXL2 and TERT promoter Sanger sequencing analysis. All aGCTs harbored the FOXL2 C134W hotspot mutation. TERT promoter mutations were found to be significantly more frequent in recurrent (18/28, 64%) than primary aGCTs (5/19, 26%, p = 0.017). In addition, mutations affecting TP53, MED12, and TET2 were restricted to aGCT recurrences. Pathway annotation of altered genes demonstrated that aGCT recurrences
Who reads Genomic Profiling of Primary and Recurrent Adult Granulosa Cell Tumors of the Ovary?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Arnaud Da Cruz Paula; Edaise M. da Silva; Sheila E. Segura; Fresia Pareja; Rui Bi; Pier Selenica; Sarah H. Kim; Lorenzo Ferrando; Mahsa Vahdatinia; Robert A. Soslow; August Vidal; Sonia Gatius; Christopher G. Przybycin; Nadeem R. Abu-Rustum; Xavier Matias-Guiu; Brian P. Rubin; Jorge S. Reis-Filho; Deborah F. DeLair; Britta Weigelt
- Publisher
- Elsevier BV
- Published
- 2020
- Language
- EN
- Field
- Medicine (Health Sciences)