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Purpose <p>Medullary thyroid cancer (MTC) is primarily diagnosed through calcitoninlevel analysis and RET mutation status. In their absence, MTC diagnosis may notoccur until after surgery, requiring a completion thyroidectomy after initial lobectomy.The authors present the first reported prospective case of MTC diagnostic suspiciondriven primarily by microRNA (miRNA) profiling.</p> Case Presentation <p>A 42-year-old male with an incidentally found thyroid nodule underwent FNA, revealing Bethesda IV cytology. ThyGeNEXT® sequencing showedno mutations; ThyraMIR®v2 profiling demonstrated a 91% match pattern favoringMTC. Subsequent labs noted elevated calcitonin (273 pg/mL). The patient underwent total thyroidectomy and central neck dissection. Histology confirmed MTC with calcitonin, INSM1, and S100 protein positivity.</p> Conclusion <p>This case demonstrates the potential of miRNA profiling as a stand-alonediagnostic adjunct in indeterminate thyroid nodules, highlighting its role in preventingdelayed diagnosis and improving surgical planning.</p>

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Medullary thyroid carcinoma diagnosis based on microRNA analysis: a case report

  • 期刊论文

  • 发表日期：

    2026年7月19日

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  • Pranati P Borkhetaria,
  • Salmaan Sayeed,
  • Margaret Nurimba,
  • Luke Stanisce,
  • Sydney D Finkelstein,
  • Raymond L Chai

摘要

Purpose

Medullary thyroid cancer (MTC) is primarily diagnosed through calcitoninlevel analysis and RET mutation status. In their absence, MTC diagnosis may notoccur until after surgery, requiring a completion thyroidectomy after initial lobectomy.The authors present the first reported prospective case of MTC diagnostic suspiciondriven primarily by microRNA (miRNA) profiling.

Case Presentation

A 42-year-old male with an incidentally found thyroid nodule underwent FNA, revealing Bethesda IV cytology. ThyGeNEXT® sequencing showedno mutations; ThyraMIR®v2 profiling demonstrated a 91% match pattern favoringMTC. Subsequent labs noted elevated calcitonin (273 pg/mL). The patient underwent total thyroidectomy and central neck dissection. Histology confirmed MTC with calcitonin, INSM1, and S100 protein positivity.

Conclusion

This case demonstrates the potential of miRNA profiling as a stand-alonediagnostic adjunct in indeterminate thyroid nodules, highlighting its role in preventingdelayed diagnosis and improving surgical planning.