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Published on: August 23, 2019
Medullary thyroid carcinoma diagnosis based on microRNA analysis: a case report
Pranati P Borkhetaria1,2, Salmaan Sayeed3, Margaret Nurimba4,5
1THANC (Thyroid, Head & Neck Cancer) Foundation, New York, NY, USA. pranati.borkhetaria@thancfoundation.org.
Summary
MicroRNA profiling shows promise for diagnosing medullary thyroid cancer (MTC) in indeterminate thyroid nodules. This approach may prevent delayed diagnosis and improve surgical planning for MTC.
Area of Science:
- Endocrinology
- Oncology
- Molecular Diagnostics
Background:
- Medullary thyroid cancer (MTC) diagnosis typically relies on calcitonin levels and RET mutation status.
- Absence of these markers can delay MTC diagnosis, potentially necessitating completion thyroidectomy after initial surgery.
Purpose of the Study:
- To present the first prospective case of MTC diagnostic suspicion driven primarily by microRNA (miRNA) profiling.
- To evaluate the potential of miRNA profiling as a standalone diagnostic adjunct for indeterminate thyroid nodules.
Main Methods:
- A 42-year-old male with a Bethesda IV thyroid nodule underwent fine-needle aspiration (FNA).
- Next-generation sequencing (ThyGeNEXT®) and miRNA profiling (ThyraMIR®v2) were performed.
- Elevated calcitonin levels were noted, followed by total thyroidectomy and central neck dissection.
Main Results:
- ThyGeNEXT® sequencing revealed no mutations.
- ThyraMIR®v2 profiling indicated a 91% match pattern favoring MTC.
- Histopathology confirmed MTC with positive markers for calcitonin, INSM1, and S100 protein.
Conclusions:
- This case highlights the potential of miRNA profiling in the standalone diagnosis of MTC.
- MiRNA profiling may serve as a crucial diagnostic adjunct, preventing delayed diagnosis and optimizing surgical strategies for MTC.
