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CRTC1/3::MAML2 基因融合转录本在鉴别组织学上相似的骨内黏液表皮样癌与腺样牙源性囊肿中的诊断可靠性:系统评价和荟萃分析。

Diagnostic Reliability of CRTC1/3::MAML2 Gene Fusion Transcripts in Discriminating Histologically Similar Intraosseous Mucoepidermoid Carcinoma from Glandular Odontogenic Cyst: A Systematic Review and Meta-analysis.

机构信息

Department of Oral Maxillofacial Pathology and Microbiology, Post Graduate Institute of Dental Sciences (PGIDS), Rohtak, Haryana, 124001, India.

Department of Oral and Maxillofacial Pathology & Microbiology, King George's Medical University, Lucknow, Uttar Pradesh, 226003, India.

出版信息

Head Neck Pathol. 2023 Mar;17(1):233-245. doi: 10.1007/s12105-022-01494-x. Epub 2022 Nov 10.

Abstract

BACKGROUND

Intraosseous mucoepidermoid carcinoma (IMEC) and Glandular odontogenic cyst (GOC) are those two pathological entities causing diagnostic dilemma due to the histopathological similarity. An accurate distinction between the two entities is difficult as both presents with a common radiological and histological similarities. The aim of our systematic review was to establish the diagnostic reliability of CRTC1/3::MAML2 gene fusion for the distinction between IMEC and GOC.

METHODS

A complete electronic literature search was made in MEDLINE by PubMed, Google Scholar, and EMBASE databases. Articles with keywords using molecular genetic findings of CRTC1/3::MAML2 gene fusion transcripts, IMEC and GOC were assessed and included for the systematic review.

RESULTS

Twelve subgroups having both qualitative and quantitative analysis revealed CRTC1/3::MAML2 sensitivity of 100% and specificity of 70.59% in differentiating GOC and IMEC. Fixed-effects model confirmed translocation-negative cases to have a decreased risk of association with IMEC (combined odds ratio 8.770, 95% confidence interval - 2.45 to 31.45, p < 0.002).

CONCLUSIONS

The current evidence supports that in all cases with positive gene fusion transcript of the CRTC1/3::MAML2 was specific for IMEC and was significantly differentiating it from GOC. Whereas cases of IMEC with negative gene fusion transcript pose diagnostic difficulty in differentiating from a GOC which is negative for CRTC1/3::MAML2 expression.

摘要

背景

骨内黏液表皮样癌 (IMEC) 和牙源性腺样瘤 (GOC) 是两种病理实体,由于组织病理学相似,导致诊断困难。由于两者具有共同的放射学和组织学相似性,因此准确区分两者具有一定难度。我们的系统评价旨在确定 CRTC1/3::MAML2 基因融合在区分 IMEC 和 GOC 中的诊断可靠性。

方法

通过 MEDLINE 中的 PubMed、Google Scholar 和 EMBASE 数据库进行全面的电子文献检索。评估了使用 CRTC1/3::MAML2 基因融合转录本、IMEC 和 GOC 的分子遗传学发现的关键词文章,并将其纳入系统评价。

结果

有 12 个亚组进行了定性和定量分析,结果显示 CRTC1/3::MAML2 在区分 GOC 和 IMEC 方面的敏感性为 100%,特异性为 70.59%。固定效应模型证实,无转位的病例与 IMEC 关联的风险降低(合并优势比 8.770,95%置信区间 -2.45 至 31.45,p < 0.002)。

结论

目前的证据支持在所有具有阳性 CRTC1/3::MAML2 基因融合转录本的病例中,该方法特异性高,可将其与 GOC 区分开来。而无基因融合转录本的 IMEC 病例在与阴性 CRTC1/3::MAML2 表达的 GOC 区分时存在诊断困难。

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