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首页> 外文期刊>European journal of endocrinology >Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours
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Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours

机译：DLK1的丰富，CYP11B1，CYP21A2和MC2R的差异表达以及INSL3的缺乏将睾丸肾上腺休息肿瘤与Leydig细胞肿瘤区分开来

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ObjectiveTesticular adrenal rest tumours (TARTs) are a common finding in patients with congenital adrenal hyperplasia (CAH). These tumours constitute a diagnostic and management conundrum and may lead to infertility. TART cells share many functional and morphological similarities with Leydig cells (LCs), and masses consisting of such cells are occasionally misclassified as malignant testicular tumours, which may lead to erroneous orchiectomy in these patients.DesignIn this study, we aimed to investigate the potential of LC developmental markers and adrenal steroidogenic markers in the differential diagnosis of TARTs and malignant LC tumours (LCTs).MethodsWe investigated mRNA and protein expression of testicular steroidogenic enzymes; CYP11A1 and HSD3B1/2, markers of adrenal steroidogenesis; CYP11B1, CYP21A2 and ACTH receptor/melanocortin 2 receptor (MC2R), and markers of LC maturation; and delta-like 1 homolog (DLK1) and insulin-like 3 (INSL3) in testicular biopsies with TART, orchiectomy specimens with LCTs and samples from human fetal adrenals.ResultsExpression of testicular steroidogenic enzymes was observed in all specimens. All investigated adrenal steroidogenic markers were expressed in TART, and weak reactions for CYP11B1 and MC2R were observed at the protein level in LTCs. TART and fetal adrenals had identical expression profiles. DLK1 was highly expressed and INSL3 not detectable in TART, whereas INSL3 was highly expressed in LCTs.ConclusionsThe similar expression profiles in TART and fetal adrenals as well as the presence of classical markers of adrenal steroidogenesis lend support to the hypothesis that TART develops from a displaced adrenal cell type. Malignant LCTs seem to have lost DLK1 expression and do not resemble immature LCs. The different expression pattern of DLK1, INSL3 and most adrenocortical markers adds to the elucidation of the histogenesis of testicular interstitial tumours and may facilitate histopathological diagnosis.
机译：目的睾丸肾上腺休息肿瘤（TARTs）是先天性肾上腺皮质增生（CAH）患者的常见发现。这些肿瘤构成诊断和处理难题，并可能导致不孕。 TART细胞与Leydig细胞（LC）具有许多功能和形态上的相似性，并且由这种细胞组成的肿块偶尔会被误分类为恶性睾丸肿瘤，这可能导致这些患者的睾丸切除术错误。 LC发育标记和肾上腺类固醇生成标记物在TARTs和恶性LC肿瘤（LCT）的鉴别诊断中。方法我们研究了睾丸类固醇生成酶的mRNA和蛋白表达; CYP11A1和HSD3B1 / 2，肾上腺类固醇生成的标志; CYP11B1，CYP21A2和ACTH受体/黑皮质素2受体（MC2R），以及LC成熟的标志物; TART的睾丸活检组织，LCT的睾丸切除术标本和人胎儿肾上腺标本中的δ1同源物（DLK1）和胰岛素样3（INSL3）的结果。所有研究的肾上腺类固醇生成标志物均在TART中表达，并且在LTCs的蛋白水平上观察到CYP11B1和MC2R的弱反应。 TART和胎儿肾上腺具有相同的表达谱。 DLK1在TART中高表达而不能检测到INSL3，而INSL3在LCT中高表达。肾上腺细胞类型。恶性LCT似乎失去了DLK1表达，与未成熟LC相似。 DLK1，INSL3和大多数肾上腺皮质标记物的不同表达模式增加了对睾丸间质瘤组织发生的阐明，并可能有助于组织病理学诊断。

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