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Volume 12 Issue 1 (January- March) 2023

Original Articles

A Study of RET/PTC1 and RET/PTC3 Gene Rearrangement in Papillary Thyroid Carcinoma with Clinico-Pathological Association in a Tertiary Care Centre of Karnataka
Dr. B R Ashwini, Dr. Nirmala C, Dr. Subhashini H Bevinakatti, Dr. M Natarajan, Dr. Dayananda S Biligi

Introduction: Papillary carcinoma of thyroid (PTC) is the commonest malignancy of thyroid. Various genetic alterations like gene mutation, gene amplification, gene translocation and gene methylation results in PTC. The prevalence of RET/PTC in papillary carcinomas shows significant geographic variation between 2.5% to 67%. There are more than 13 different types of RET/PTC translocations with RET/PTC1 and RET/PTC3 being commonest, accounting for >90% of all rearrangements. Many studies have correlated RET/PTC1 and RET/PTC 3 with clinicopathological features and found varying results. Thus, we intend to study the frequency of RET/PTC gene rearrangement among PTC at our institute and see the association of RET/PTC1 and RET/PTC3 gene rearrangement with various histomorphological features. Methods: The study was conducted on histopathologically proved PTC cases. The Hematoxylin and eosin (H&E) stained slides prepared from formalin fixed paraffin embedded (FFPE), tissue blocks were evaluated and the area of interest with presence of >50% tumour area and absence of haemorrhage, necrosis and stromal desmoplasia was selected for PCR. The RNA was extracted followed by singleton Taqman gene expression assay for RET/PTC1 and RET/PTC3 rearrangement using Ag-PATH one step RT-PCR. ACTB gene was used as internal control. The results were correlated with various clinicopathological features for statistical significance. Results: A total of 18 PTC cases were included in the study. There were 6 (33.3%) males and 12 (66.6%) females with age range from 21 years to 68 years. On microscopic examination, conventional PTC, were seen in 10 cases (55.6%) and follicular variant seen in 8 cases (44.4%). The RET/PTC gene arrangement was seen in 3 out of 18 cases (16.6%) with RET/PTC1 gene arrangement seen in 1 cases (5.6%) and RET/PTC3 gene arrangement seen in 2 cases (11.1%). No statistically significant association of RET/PTC gene arrangement with age, gender, size of the lesion and microscopic type were noted.

 
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