Case report: recurrent pituitary adenoma has increased load of somatic variants
| Autor: | Aigars Kiecis, Jurijs Nazarovs, Valdis Pirags, Ilze Konrade, Inga Balcere, Ivars Silamikelis, Olivija Caune, Kaspars Megnis, Janis Klovins, Vita Rovite, Ilze Radovica-Spalvina, Janis Stukens, Austra Breiksa, Raitis Peculis |
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| Rok vydání: | 2020 |
| Předmět: |
Pituitary adenoma exome sequencing
Adenoma Genetic Markers 0301 basic medicine Pathology medicine.medical_specialty NFPA Endocrinology Diabetes and Metabolism medicine.medical_treatment Case Report Single-nucleotide polymorphism Tumour variant analysis lcsh:Diseases of the endocrine glands. Clinical endocrinology Polymorphism Single Nucleotide Germline 03 medical and health sciences 0302 clinical medicine Pituitary adenoma medicine Humans Missense mutation Pituitary Neoplasms HRAS Craniotomy Exome sequencing Aged lcsh:RC648-665 business.industry General Medicine Prognosis medicine.disease Recurrent pituitary adenoma 030104 developmental biology 030220 oncology & carcinogenesis Female Neoplasm Recurrence Local business SNP array |
| Zdroj: | BMC Endocrine Disorders BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-9 (2020) |
| ISSN: | 1472-6823 |
| DOI: | 10.1186/s12902-020-0493-x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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