Academic Journal
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis
| العنوان: | The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis |
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| المؤلفون: | Daniela Rivera, Michele Paudice, Giulia Accorsi, Floriana Valentino, Marta Ingaliso, Ada Pianezzi, Paola Roggieri, Lucia Trevisan, Giulia Buzzatti, Serafina Mammoliti, Fabio Barra, Simone Ferrero, Gabriella Cirmena, Viviana Gismondi, Valerio Gaetano Vellone |
| المصدر: | Journal of Clinical Medicine, Vol 12, Iss 23, p 7236 (2023) |
| بيانات النشر: | MDPI AG |
| سنة النشر: | 2023 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | endometrial cancer (EC), multigene-NGS panel, POLE, TP53, Medicine |
| الوصف: | Endometrial cancer (EC) is the most frequent gynecological cancer. The ESGO/ESTRO/ESP 2020 guidelines identify prognostic groups based on morpho-molecular characteristics. This study aims to evaluate the clinical applicability of NGS analysis to define an appropriate risk class and to improve the diagnostic and prognostic stratification of ECs. Cases of serous carcinoma (OHEC) and high- (HGEC) and low-grade (LGEC) endometrioid carcinoma diagnosed with the morphological and immunohistochemical (IHC) protocols were considered. After a standardized pre-analytical phase, tumor DNA was semi-automatically extracted and analyzed using NGS with a panel of 14 genes. A total of 63 cases were considered. NGS analysis was successful in 60 cases; all of these were classified according to the new diagnostic algorithm. The molecular risk classification showed a good correlation with the morphological (k = 0.8). The study showed that the protocols of the pre-analytical and analytical phases used are robust and can lead to molecular results that fall within the standards required, which can be used in clinical practice for more precise diagnostic–therapeutic management of patients. The implementation of the classification is particularly relevant for better prognostic stratification of HGECs. In addition, the identification of a suspicious VUS in POLE questions the classification of truncating variants. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2077-0383 |
| Relation: | https://www.mdpi.com/2077-0383/12/23/7236; https://doaj.org/toc/2077-0383; https://doaj.org/article/ced0d077bd3c46f986edba7e4ee5babc |
| DOI: | 10.3390/jcm12237236 |
| الاتاحة: | https://doi.org/10.3390/jcm12237236 https://doaj.org/article/ced0d077bd3c46f986edba7e4ee5babc |
| رقم الانضمام: | edsbas.6292C903 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20770383 |
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| DOI: | 10.3390/jcm12237236 |