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Case report: recurrent pituitary adenoma has increased load of somatic variants.
BMC Endocrine Disorders ( IF 2.7 ) Pub Date : 2020-01-29 , DOI: 10.1186/s12902-020-0493-x
Raitis Peculis 1 , Inga Balcere 2, 3 , Ilze Radovica-Spalvina 1 , Ilze Konrade 2, 3 , Olivija Caune 2 , Kaspars Megnis 1 , Vita Rovite 1, 4 , Janis Stukens 5 , Jurijs Nazarovs 5 , Austra Breiksa 5 , Aigars Kiecis 2 , Ivars Silamikelis 1 , Valdis Pirags 4, 5 , Janis Klovins 1
Affiliation  

BACKGROUND Pituitary adenomas (PA) have an increased potential for relapse in one to 5 years after resection. In this study, we investigated the genetic differences in genomic DNA of primary and rapidly recurrent tumours in the same patient to explain the causality mechanisms of PA recurrence. CASE PRESENTATION The patient was a 69-year-old female with non-functional pituitary macroadenoma with extension into the left cavernous sinus (Knosp grade 2) who underwent craniotomy and partial resection in August 2010. Two years later, the patient had prolonged tumour growth with an essential suprasellar extension (Knosp grade 2), and a second craniotomy with partial tumour resection was performed in September 2012. In both tumours, the KI-67 level was below 1.5%. Exome sequencing via semiconductor sequencing of patient germline DNA and somatic DNA from both tumours was performed. Tmap alignment and Platypus variant calling were performed followed by variant filtering and manual review with IGV software. We observed an increased load of missense variants in the recurrent PA tumour when compared to the original tumour. The number of detected variants increased from ten to 26 and potential clonal expansion of four variants was observed. Additionally, targeted SNP analysis revealed five rare missense SNPs with a potential impact on the function of the encoded proteins. CONCLUSIONS In this case study, an SNP located in HRAS is the most likely candidate inducing rapid PA progression. The relapsed PA tumour had a higher variation load and fast tumour recurrence in this patient could be caused by clonal expansion of the leftover tumour tissue.

中文翻译:

病例报告:垂体垂体腺瘤复发增加了体细胞变异的负荷。

背景技术垂体腺瘤(PA)切除后1至5年内复发的可能性增加。在这项研究中,我们调查了同一患者中原发性和快速复发性肿瘤的基因组DNA的遗传差异,以解释PA复发的原因机制。病例介绍该患者是一名69岁女性,患有垂体无功能性垂体大腺瘤,并延伸至左海绵窦(Knosp 2级),于2010年8月进行了开颅手术和部分切除。两年后,该患者的肿瘤生长时间延长在2012年9月进行了必要的鞍上扩张术(Knosp 2级),并进行了第二次开颅手术,部分切除了肿瘤。在两种肿瘤中,KI-67的水平均低于1.5%。通过来自两个肿瘤的患者种系DNA和体细胞DNA的半导体测序进行外显子组测序。进行Tmap对齐和鸭嘴兽变体调用,然后进行变体过滤和使用IGV软件进行手动检查。与原始肿瘤相比,我们观察到复发性PA肿瘤中错义变体的负载增加。检测到的变体数量从十个增加到26个,并观察到四个变体的潜在克隆扩增。此外,有针对性的SNP分析揭示了5种罕见的错义SNP,它们可能对编码蛋白的功能产生潜在影响。结论在本案例研究中,位于HRAS的SNP最有可能诱发PA快速发展。
更新日期:2020-04-22
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