Clinical Research Directory

Role of Cytomorphometry and BRAFV600E Immunocytochemistry With a Cytologic Diagnosis "Suspicious for Papillary Thyroid Carcinoma"

Sponsor: Assiut University

Summary

Thyroid nodules (TNs) are a common finding, detected by ultrasound in about 70% of healthy individuals, with women being four times more affected. While most TNs are benign, the primary clinical goal is to exclude malignancy, which occurs in 4-6.5% of cases. Risk factors for TNs include age, gender, iodine imbalance, family history, and radiation exposure. Thyroid cancer incidence has risen due to improved diagnostic methods such as ultrasound, FNAC, CT, MRI, and PET scans. Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy (90%), followed by follicular, Hurthle cell, medullary, and anaplastic carcinomas. Most thyroid cancers have an excellent prognosis, with a 5-year survival rate of 98.6%. FNAC is the gold standard for diagnosing TNs, and the Bethesda system (TBSRTC) categorizes cytology results into six groups with varying malignancy risks. The "suspicious for malignancy" category (74% risk) includes mostly suspicious papillary thyroid carcinoma (SPTC), but false positives occur, especially in cases of Hashimoto's thyroiditis. SPTC diagnosis can be challenging, leading to potential overtreatment. To improve diagnostic accuracy, additional techniques like detailed ultrasonographic criteria, intraoperative frozen section, and molecular marker testing are used. Cytomorphometric analysis has been explored for distinguishing benign from malignant thyroid lesions, assessing nuclear size, shape, and chromatin patterns. Most studies have focused on histological sections, but applying morphometry to cytology could enhance automated and accurate diagnoses. Molecular studies reveal that PTCs primarily arise from MAPK pathway mutations, with BRAFV600E being the most common (60%). This mutation is strongly associated with aggressive tumor behavior and recurrence. BRAFV600E testing combined with FNAC significantly improves diagnostic accuracy, increasing sensitivity from 76.71% (mutation testing alone) to 96.62% when combined with cytology. This integration has reduced false-negative PTC diagnoses and facilitated targeted therapies.

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