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RET/PTC Gene Rearrangements in Thyroid Carcinogenesis: Assessment and Clinico-Pathological Correlations.
Mosin S Khan1, Qurteeba Qadri1, Mudasir J Makhdoomi1
1Department of Clinical Biochemistry, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, 190011, India.
Pathology Oncology Research : POR
|November 24, 2018
Summary
Rearranged during transfection (RET) gene rearrangements, particularly RET/PTC3, are frequent in papillary thyroid cancer (PTC) among Kashmiri women. These genetic alterations correlate with specific clinical factors, highlighting their role in thyroid carcinogenesis.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Papillary thyroid cancer (PTC) involves rearrangements of the proto-oncogene Rearranged during transfection (RET).
- Specific RET/PTC fusions, like RET/PTC1 and RET/PTC3, are well-characterized drivers of thyroid carcinogenesis.
- An increasing incidence of thyroid cancer in young women in the Kashmir valley necessitates investigation into underlying genetic mechanisms.
Purpose of the Study:
- To investigate the prevalence of RET/PTC1 and RET/PTC3 rearrangements in Kashmiri thyroid cancer patients.
- To correlate the presence of these RET/PTC rearrangements with clinicopathological characteristics.
- To understand the role of RET/PTC rearrangements in the specific context of the Kashmiri population.
Main Methods:
- Semi-quantitative polymerase chain reaction (qPCR) and quantitative polymerase chain reaction (qPCR) were employed.
- Analysis was performed on thyroid cancer patients from the Kashmiri population (n=48).
- Results were correlated with various clinicopathological features.
Main Results:
- RET/PTC rearrangements were exclusively found in papillary thyroid cancer cases (10 out of 40).
- The RET/PTC3 rearrangement was identified as a frequent event in this population.
- The presence of RET/PTC rearrangements showed significant correlation with gender, elevated TSH levels, and lymph node metastasis.
Conclusions:
- RET/PTC3 rearrangement appears to be a significant factor in thyroid gland carcinogenesis within the Kashmiri population.
- The findings suggest a link between RET/PTC rearrangements and specific clinical indicators in PTC.
- Further research with a larger sample size is recommended to fully elucidate the role of RET/PTC rearrangements in this demographic.
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