A novel case of endometrial dedifferentiated adenocarcinoma associated with MLH1 promotor hypermethylation and microsatellite instability
| Autor: | Fei Pei, Xinying Liu, Rui Wu, Beiying Liu, Jiang-feng You, Xiaodan Liu, Xiaoqiang Wang, Qichen Liu, Ran Tang, Yakun Shao, Kuangen Zhang |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Adenocarcinoma medicine.disease_cause MLH1 Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Endometrial Dedifferentiated Carcinoma medicine Humans Promoter Regions Genetic neoplasms business.industry Microsatellite instability Cell Biology DNA Methylation Middle Aged medicine.disease digestive system diseases Endometrial Neoplasms MSH6 030104 developmental biology MSH2 030220 oncology & carcinogenesis Cancer research Immunohistochemistry Female Microsatellite Instability KRAS MutL Protein Homolog 1 business |
| Zdroj: | Pathology - Research and Practice. 214:1904-1908 |
| ISSN: | 0344-0338 |
| DOI: | 10.1016/j.prp.2018.08.015 |
| Popis: | Endometrial dedifferentiated carcinoma is a rare, malignant tumor whose molecular alterations have not been clarified yet. We report a novel case of a 61-year old woman who presented with irregular vaginal bleeding after menopause and a 3 cm uterus mass. Histology revealed endometrial dedifferentiated adenocarcinoma, a rare subtype comprised of undifferentiated adenocarcinoma. The patient still survived 1 year after surgery without chemotherapy and radiotherapy. Immunohistochemistry revealed loss of MLH1/PMS2 expression and retained MSH2/MSH6 expression. Consistently, microsatellite instability was detected indicative of high microsatellite instability (MSI-H). No BRAF V600E, KRAS and POLE mutations were identified. Remarkably, the promoter regions of mutL homolog 1(MLH1) were methylated. Furthermore, several tumor cells were PD-L1 positive in this case with a concentration at the infiltrating tumor edge indicating MSI-H in endometrial dedifferentiated adenocarcinoma is a potential predictive factor for response to immunotherapy targeting the PD-1 or its ligand PD-L1. |
| Databáze: | OpenAIRE |
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