Clinical patterns and genomic profiling of recurrent ‘ultra-low risk’ endometrial cancer
| Autor: | Noah Z. Feit, Ginger J. Gardner, Jennifer J. Mueller, Robert A. Soslow, Karen Cadoo, Ana Paula Martins Sebastiao, Nadeem R. Abu-Rustum, Britta Weigelt, Marina Stasenko, Simon S K Lee, Mario M. Leitao, Kaled M. Alektiar, Edaise M da Silva, Pier Selenica, Cassandra Shepherd |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Oncology medicine.medical_specialty Population Disease 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Mass index education Aged Retrospective Studies 030304 developmental biology Aged 80 and over 0303 health sciences education.field_of_study Massive parallel sequencing business.industry Endometrial cancer Obstetrics and Gynecology Microsatellite instability Middle Aged medicine.disease Endometrial Neoplasms DNA Repair Enzymes 030220 oncology & carcinogenesis Immunohistochemistry Female Microsatellite Instability New York City DNA mismatch repair Neoplasm Recurrence Local business Carcinoma Endometrioid |
| Zdroj: | International Journal of Gynecologic Cancer. 30:717-723 |
| ISSN: | 1525-1438 1048-891X |
| DOI: | 10.1136/ijgc-2020-001241 |
| Popis: | ObjectiveDespite good prognosis for patients with low-risk endometrial cancer, a small subset of women with low-grade/low-stage endometrial cancer experience disease recurrence and death. The aim of this study was to characterize clinical features and mutational profiles of recurrent, low-grade, non-myoinvasive, ‘ultra-low risk’ endometrioid endometrial adenocarcinomas.MethodsWe retrospectively identified patients with International Federation of Gynecology and Obstetrics (FIGO) stage IA endometrioid endometrial cancers who underwent primary surgery at our institution, between January 2009 and February 2017, with follow-up of ≥12 months. ‘Ultra-low risk’ was defined as FIGO tumor grade 1, non-myoinvasive, and lacking lymphovascular space invasion. Tumor-normal profiling using massively parallel sequencing targeting 468 genes was performed. Microsatellite instability was assessed using MSIsensor. DNA mismatch repair (MMR) protein proficiency was determined by immunohistochemistry.ResultsA total of 486 patients with ultra-low risk endometrioid endometrial cancers were identified: 14 (2.9%) of 486 patients developed a recurrence. Median follow-up for non-recurrent endometrioid endometrial cancers: 34 (range 12–116) months; for recurrent endometrioid endometrial cancers: 50.5 (range 20–116) months. Patients with recurrent disease were older, had lower body mass index, and were most commonly non-White (p=0.025, pPTEN and PIK3CA mutations were present in both groups. Exon 3 CTNNB1 hotspot mutations were found in 4/9 (44%) recurrent and 8/27 (30%) non-recurrent (p=0.44).ConclusionsPatients diagnosed with ultra-low risk endometrioid endometrial cancers have an overall excellent prognosis. However, in our study, 2.9% of patients with no identifiable clinical or pathologic risk factors developed recurrence. Further work is warranted to elucidate the mechanism for recurrence in this population. |
| Databáze: | OpenAIRE |
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