Identification of mutant K-RAS in pituitary macroadenoma
Identification of mutant K-RAS in pituitary macroadenoma
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DOI：
10.1007/s11102-021-01151-6
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发表时间：
2021-05-05
期刊：
影响因子：
3.8
通讯作者：
Neto, Vivaldo Moura
中科院分区：
文献类型：
--
作者：
Aran, Veronica;Heringer, Manoela;Neto, Vivaldo Moura
目的RAS基因是肿瘤中最常见的突变基因之一，其突变频率因RAS亚型和肿瘤类型的不同而不同。尽管RAS突变在恶性肿瘤中更为常见，但在少数良性肿瘤中也观察到了RAS突变。垂体腺瘤是良性肿瘤，其大小和侵袭性各不相同。本研究通过液体活检和组织分析，对1例垂体大腺瘤K-RAS基因突变进行了研究。方法采用液滴数字聚合酶链式反应(DdPCR)技术，对1例临床诊断为巨型无功能性垂体瘤患者的血浆(液体活检)和实体瘤进行分子检测。结果患者因视力丧失而接受手术切除，组织病理学检查显示为促性腺激素分泌的大腺瘤。分子分析显示，在血浆和肿瘤组织中都存在突变的K-RAS，据我们所知，这在以前的文献中没有报道。结论本研究首次在垂体大腺瘤组织中检测到K-RAS基因突变，从而突出了数字聚合酶链式反应在检测低频突变(低于1%)方面的卓越能力。K-RAS突变在这些肿瘤中的潜在影响应进一步研究。
Purpose RAS genes are among the most frequently mutated genes in cancer, where their mutation frequency varies according to the distinct RAS isoforms and tumour types. Despite occurring more prevalent in malignant tumours, RAS mutations were also observed in few benign tumours. Pituitary adenomas are examples of benign tumours which vary in size and aggressiveness. The present study was performed to investigate, via liquid biopsy and tissue analysis, the presence of K-RAS mutations in a pituitary macroadenoma. Methods Molecular analysis was performed to investigate K-RAS mutations using the droplet digital PCR (ddPCR) method by evaluating both plasma (liquid biopsy) and the solid tumour of a patient diagnosed with a giant clinically non-functioning pituitary tumour. Results The patient underwent surgical resection due to visual loss, and the histopathological analysis showed a gonadotrophic pituitary macroadenoma. The molecular analysis revealed the presence of mutant K-RAS both in the plasma and in the tumour tissue which, to our knowledge, has not been previously reported in the literature. Conclusion Our findings highlight the exceptional capacity of the digital PCR in detecting low frequency mutations (below 1%), since we detected, for the first time, K-RAS mutations in pituitary macroadenoma. The potential impact of K-RAS mutations in these tumours should be further investigated.