Tianjin Yi

Whole-Exome Sequencing Identifies Germline BLM Mutation in Ovarian Hepatoid Adenocarcinoma with Favorable Response to Niraparib and Anlotinib Combination Therapy—A Case Report and Literature Review

Hepatoid adenocarcinoma of the ovary represents a rare and malignant extrahepatic tumor that shares morphological and immunophenotypic similarities with hepatocellular carcinoma. Due to the ambiguous histomorphology and aggressive behavior, the diagnosis and management of hepatoid adenocarcinoma of the ovary present unique challenges. Here, we present a 67-year-old woman with massive ascites and disseminated peritoneal implants at initial diagnosis. She was treated with six cycles of neoadjuvant therapy (albumin-bound paclitaxel + nedaplatin + bevacizumab) and a debulking surgery, followed by eight cycles of postoperative adjuvant therapy (albumin-bound paclitaxel + carboplatin + bevacizumab). Elaborate pathology workup found significant involvement of angiogenesis in the tumor and confirmed the diagnosis via immunohistochemistry. Further molecular characterization of the tumor by whole-exome sequencing (WES) revealed a novel heterozygous germline mutation (NM_000057.2, c.1290_1291delinsATCAGGCCTCCATAG, p.Y430fs1) in gene BLM , likely pathogenic, suggesting a potential candidate for Poly (ADP-ribose) polymerase (PARP) inhibitors. For the maintenance therapy, she received a combination of the PARP inhibitor niraparib and the antiangiogenic anlotinib. As of now, the patient has achieved a partial response, with no apparent evidence of disease progression observed nearly 30 months. Our study sheds light on the WES-based profiling in rare cancers to screen for any treatable targets with otherwise no standard therapeutic options. The promising results with the niraparib–anlotinib combination suggest its potential as a maintenance therapy option for hepatoid adenocarcinoma of the ovary, which warrants validation in future larger cohort.

Distinct endometriosis involvement confers divergent oncologic outcomes in ovarian clear cell carcinoma

To evaluate the clinicopathologic characteristics and survival outcomes of ovarian clear cell carcinoma (OCCC) patients with different endometriosis statuses. This retrospective study included OCCC patients diagnosed between 2012 and 2021, classified into three groups based on the Sampson and Scott criteria: Without (no endometriosis), Arising (OCCC arising from endometriosis), and Coexisting (OCCC coexisting with endometriosis). Clinical and pathological characteristics were compared across groups, and survival outcomes were analyzed using Kaplan-Meier methods. Prognostic factors for progression-free survival (PFS) and overall survival (OS) were identified through univariate and multivariate analyses. Among 242 patients, 53.7% were in the Without group, 29.3% in the Arising group, and 16.9% in the Coexisting group. The Arising group had the highest prevalence of early FIGO stage disease (91.6%) compared to the Coexisting (75.6%, p = 0.041) and Without (67.7%, p = 0.000) groups. Lymph-node metastasis was significantly lower in the Arising group (2.8%) than in the Coexisting (19.5%, p = 0.010) and Without (10%, p = 0.011) groups. Notably, the Arising group demonstrated unique atypical endometriosis features. In univariate analysis, the presence of endometriosis (either arising from or coexisting with endometriosis) was associated with improved PFS (p = 0.004 and p = 0.009, respectively); however, multivariate analysis confirms only coexisting with endometriosis as an independent factor (HR: 0.11, 95% CI: 0.01-0.84). For OS, the Arising group demonstrated the most significant benefit, with a 5-year OS of 92.4% compared to the Coexisting group (83.9%, p = 0.293) and the Without group (62.6%, p = 0.023). Multivariate analysis identified only FIGO stage (HR: 5.89, 95% CI: 2.06-16.82) as an independent prognostic factor for OS, while endometriosis did not reach statistical significance (HR: 0.62, 95% CI: 0.26-1.53). Classifying OCCC with endometriosis statuses reveals distinct prognostic patterns. Coexisting with endometriosis positively impacts PFS, while the Arising subgroup shows the most significant OS benefit but may be confounded with other factors.