Article ; Online: Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient.
Cold Spring Harbor molecular case studies
2024 Volume 9, Issue 4
Abstract: Although the progressive histologic steps leading to endometrial cancer (EndoCA), the most common female reproductive tract malignancy, from endometrial hyperplasia are well-established, the molecular changes accompanying this malignant transformation in ...
| Abstract | Although the progressive histologic steps leading to endometrial cancer (EndoCA), the most common female reproductive tract malignancy, from endometrial hyperplasia are well-established, the molecular changes accompanying this malignant transformation in a single patient have never been described. We had the unique opportunity to investigate the paired histologic and molecular features associated with the 12-yr development of EndoCA in a postmenopausal female who could not undergo hysterectomy and instead underwent progesterone treatment. Using a specially designed 58-gene next-generation sequencing panel, we analyzed a total of 10 sequential biopsy samples collected over this time frame. A total of eight pathogenic/likely pathogenic mutations in seven genes, |
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| MeSH term(s) | Humans ; Female ; Hyperplasia ; Progesterone ; Proto-Oncogene Proteins p21(ras)/genetics ; Endometrial Neoplasms/genetics ; Endometrial Neoplasms/therapy ; Endometrial Neoplasms/pathology ; Endometrium ; Mutation |
| Chemical Substances | Progesterone (4G7DS2Q64Y) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) |
| Language | English |
| Publishing date | 2024-01-10 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2835759-0 |
| ISSN | 2373-2873 ; 2373-2873 |
| ISSN (online) | 2373-2873 |
| ISSN | 2373-2873 |
| DOI | 10.1101/mcs.a006311 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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