Single thyroid tumour showing multiple differentiated morphological patterns and intramorphological molecular genetic...

Area of Science:

• Oncology
• Molecular Pathology
• Genomics

Background:

• Thyroid tumors can exhibit diverse histological patterns.
• Understanding the molecular basis of these variations is crucial for diagnosis and treatment.
• This study examines a rare case of a single thyroid tumor with multiple distinct morphologies.

Observation:

• A single thyroid tumor presented with conventional papillary, follicular variant, clear cell, columnar cell, and poorly differentiated carcinoma.
• Targeted next-generation sequencing (NGS) was performed on each morphological component and metastases.

Findings:

• NGS revealed distinct molecular alterations (BRAF, KRAS mutations) in different tumor components.
• Partial concordance and significant molecular discordance were observed between morphologies.
• Metastatic components also showed varied mutational profiles, including compound KRAS mutations.

Implications:

• The molecular signatures of morphologically distinct thyroid carcinoma subtypes within a single tumor can be significantly different.
• This highlights the heterogeneity of thyroid tumors at the molecular level.
• Further research is needed to understand the clinical significance of these molecular variations.