Investigator
Professor · İstanbul Üniversitesi-Cerrahpaşa Cerrahpaşa Tıp Fakültesi, Pathology
The relationship between histopathological data and molecular alterations with oncological outcomes in endometrioid-type endometrial cancers and a novel POLE mutation
To identify molecular subgroups in endometrioid endometrial cancer (EEC), evaluate their association with clinicohistopathological characteristics, and define low-intermediate risk groups by integrating these parameters. This retrospective-cohort study included 1,040 patients who underwent surgery between January 2000 and June 2022. Among 900 EEC cases, 72 recurred. Patients with tumor recurrence (n=62) and those without (n=52) were matched. POLE exons 9-14 were examined using Sanger sequencing. p53 and mismatch repair (MMR) protein expression were assessed via immunohistochemistry. The molecular subgroups were POLE mutation (POLE-mut) 5%, mismatch repair-deficient (MMR-d) 43%, p53 mutation (p53-mut) 5%, and non-specific molecular profile (NSMP) 42%. 5% of cases displayed multiple molecular mutations. POLE-mut were more prevalent in high-grade tumors (p=0.026). MMR-d tumors exhibited higher rates of lymphovascular space invasion and myometrial invasion ≥50% (p=0.032, p=0.020). No recurrences occurred in POLE-mut tumors (p=0.002), while MMR-d was significantly associated with recurrence (p=0.002). Median disease-free survival (DFS) for MMR-d, p53-mut, and NSMP were 34, 49, and 107 months, respectively. Median overall survival (OS) for these groups was 128, 102, and 181 months. Multivariate Cox-regression analysis employing the Backward-Stepwise method identified stage as the strongest predictor of DFS, and grade and stage as predictors of OS. POLE mutations were linked to the most favorable molecular prognostic factor. NSMP cases showed the longest DFS and OS, while p53-mut had the shortest OS. Except for POLE, molecular features alone were insufficient for establishing risk groups, highlighting the continued importance of histopathology in EEC management.
Juvenile granulosa cell tumor: 20 years’ experience of a Tertiary Center
The aim of this study is to share of the 20-year experience of a tertiary center about juvenile granulosa cell tumor (JGCT) and describe clinic manifestations, treatment, and outcome of patients who diagnosed JGCT. Five patients who diagnosed juvenile granulosa cell tumor between 2000 and 2020 were included in the study. The demographics, clinical findings and outcomes were retrospectively evaluated. Of the 5 patients in our study, one was in the premenarcheal girl. The common complaint in all of our patients was abdominal swelling. In preoperative imaging methods, all patients had unilateral adnexal mass and no signs in favor of metastasis. All patients were staged according to FIGO classification for ovarian tumors; 3 of patients had stage IA disease, one of patients had stage IC1 and one of patients had stage IC2. All patients underwent different surgecal procedures which is appropriate for their clinical manifestations. In addition to surgery 2 patients received adjuvant chemotherapy. The median follow-up period of the patients was 60 mounts and recurrence was observed in two patients who were reoperated. We have no patients who died due to this disease. Possible diagnosis of juvenile granulosa cell tumor should be kept in mind in a patient of young age with unilateral adnexal mass with benign features.
Professor
İstanbul Üniversitesi-Cerrahpaşa Cerrahpaşa Tıp Fakültesi · Pathology
TR
Scopus: 6603003841