Case Report
BRAF V600E-Positive Classical Papillary Thyroid Carcinoma: Integrating Histopathological Diagnosis with Next-Generation Sequencing for Personalized Oncological Management – A Case Report
*Rahman DA
- *Dr. DM Arifur Rahman, Associate Professor, Department of Histopathology, TMSS Medical College, Bogura. arifurrahmandm@gmail.com. ORCID: https://orcid.org/ 0009-0007-2493-9230
- Dr. Shormily Akter, Scientist, TMSS Biomolecular Lab, Bogura. ORCID: https://orcid.org/0009-0007-2493-9230
*For correspondence
Abstract
Background: Papillary thyroid carcinoma (PTC) is the most prevalent thyroid malignancy globally, with BRAF V600E being its most common somatic driver mutation. This mutation constitutively activates the MAPK/ERK signalling pathway, contributing to aggressive clinicopathological behaviour and radioiodine (RAI) refractoriness.
Case Presentation: We report a 40-year-old female who presented with a thyroid nodule and was histopathologically diagnosed with classical PTC. Formalin-fixed paraffin-embedded (FFPE) tissue was subjected to targeted next-generation sequencing (NGS) using the oncoReveal™ Solid Tumor v2 Panel (48 genes) on the Illumina NextSeq™ 1000 platform. NGS revealed a pathogenic somatic BRAF c.1799T>A (p.Val600Glu) single nucleotide variant (SNV) in exon 15.
Conclusion: This case illustrates the complementary roles of histopathology and NGS in the WHO 2022 molecular classification framework for PTC. The identification of a pathogenic BRAF V600E mutation confirms molecular diagnosis, supports RAI-refractoriness risk assessment, and enables eligibility for Dabrafenib/Trametinib combination therapy, exemplifying precision oncology in thyroid cancer.
[Journal of Histopathology and Cytopathology, 2026 Jul; 10 (2):170-178]
DOI: https://www.doi.org/10.69950/jhc.2026.10.2.13