Rapid recurrence of ovarian mixed sex-cord-stromal tumor associated with DICER1 gene mutation: a case analysis and literature review

DICER1基因突变相关卵巢混合性索间质肿瘤快速复发:病例分析及文献综述

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Abstract

INTRODUCTION AND IMPORTANCE: Ovarian tumors are relatively rare in children and adolescent females, with mixed sex-cord-stromal tumors being a specific subtype that has a low incidence and is associated with DICER1 gene mutations. CASE PRESENTATION: This case report describes a 14-year-old female patient diagnosed with a mixed sex-cord-stromal tumor associated with a DICER1 gene mutation, who had a rapid recurrence. The patient did not receive standardized chemotherapy after the initial surgery, and the tumor recurred within 6 months, leading to a second surgery and chemotherapy. One year of follow-up showed no recurrence. CLINICAL DISCUSSION: This case emphasizes the complexity and biological behavior of mixed sex-cord-stromal tumors, providing important differential diagnostic insights for clinical practice. Moreover, with only three cases of recurrence reported globally, it is crucial for clinicians to take this into consideration. CONCLUSION: The management experience from this case provides important references for future related research and clinical practice.

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