Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.

IF 2.4 3区 医学 Q2 PATHOLOGY
Zhuoyao Lyu, Yilin Liu, Jingci Chen, Pengyan Wang, Zhaohui Lu, Xiaoyan Chang, Xianlong Chen, Heng Ma, Shengwei Mo, Shuangni Yu, Jie Chen
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引用次数: 0

Abstract

Background: Sertoli-Leydig cell tumors (SLCTs) are a rare group of sex cord-stromal tumors that account for less than 0.5% of all ovarian tumors. This study aims to compare the pathological and clinical characteristics of SLCTs with and without DICER1 hotspot mutations, highlighting the impact of these genetic variations on clinical manifestation, prognosis, and pathological morphology.

Methods: A retrospective analysis was conducted on 50 SLCTs. DICER1 RNase IIIb hotspot mutations were detected by the Sanger sequence. Clinical information, such as patients' symptoms, tumor staging, prognosis, and pathological features, such as tumor differentiation and growth patterns, were collected.

Results: DICER1 mutation only appears in the intermediate/poorly differentiated SLCTs (35.7%), while none in the well-differentiated SLCTs. The patients with DICER1 mutation had a younger age of onset (17, 15-25) compared to the wild-type group (42, 27-58). Regarding pathological morphology, the mutant group showed a higher probability of having retiform components (40.0%) and cords or ribbon-like arrangement (33.3%). Besides, they exhibited mucinous edematous stroma (80.0%) and hemorrhage (80.0%) more frequently than the wild-type group. The mutant tumor had more mitotic figures. (11/10HPF), higher Ki-67 index (16.1%), and more CD20-positive cell infiltration. Patients of the mutant group were more likely to experience recurrence, and their tumors were more prone to rupture.

Conclusions: This study demonstrates that DICER1-mutant and wildtype SLCTs have marked differences in pathological morphology and clinical manifestation. DICER1-mutatant SLCTs display worse prognosis, higher proliferative activity, and potentially more active immune microenvironments, which underscores the importance of genetic testing in diagnosing and assessing the prognosis of SLCTs.

DICER1热点突变Sertoli-Leydig细胞肿瘤的病理和临床研究:比较分析
背景:上皮间质细胞瘤(SLCTs)是一种罕见的性索间质肿瘤,占卵巢肿瘤的不到0.5%。本研究旨在比较存在和不存在DICER1热点突变的slct的病理和临床特征,突出这些遗传变异对临床表现、预后和病理形态的影响。方法:对50例slct进行回顾性分析。采用Sanger序列检测DICER1 RNase IIIb热点突变。收集患者症状、肿瘤分期、预后等临床信息,以及肿瘤分化、生长方式等病理特征。结果:DICER1突变仅出现在中/低分化slct中(35.7%),而未出现在高分化slct中。DICER1突变患者的发病年龄比野生型组(42,27 -58)更年轻(17,15 -25)。在病理形态上,突变组具有网状成分(40.0%)和索状或带状排列(33.3%)的概率更高。此外,与野生型组相比,它们出现粘液性水肿间质(80.0%)和出血(80.0%)的频率更高。突变肿瘤有更多的有丝分裂象。(11/10HPF), Ki-67指数升高(16.1%),cd20阳性细胞浸润增多。突变组的患者更容易复发,肿瘤更容易破裂。结论:本研究表明dicer1突变型和野生型slct在病理形态和临床表现上存在显著差异。dicer1突变的slct表现出更差的预后、更高的增殖活性和潜在的更活跃的免疫微环境,这强调了基因检测在诊断和评估slct预后中的重要性。
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来源期刊
Diagnostic Pathology
Diagnostic Pathology 医学-病理学
CiteScore
4.60
自引率
0.00%
发文量
93
审稿时长
1 months
期刊介绍: Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).
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