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Introduction <p>Medullary thyroid carcinoma (MTC) is a neuroendocrine malignancy arising from parafollicular C cells of the thyroid gland. The small cell variant of MTC (SCV-MTC) is an exceptionally rare subtype, known for its aggressive behaviour and diagnostic ambiguity, particularly when calcitonin expression is absent or minimal.</p> Case Presentation <p>A middle-aged male with a 4-year history of anterior neck swelling and recent dysphagia and hoarseness was evaluated. Imaging showed a large thyroid mass with retrosternal extension, bilateral cervical and mediastinal lymphadenopathy, skeletal metastases, and pleural effusions. Serum calcitonin was reported as 40&#xa0;pg/mL, while anti-TPO, and PTH levels were normal; however, CEA and LDH were elevated. Biopsy revealed small round-to-oval cells with high N:C ratio, stippled chromatin, and high mitotic activity with immunohistochemistry profile suggesting a diagnosis of SCV-MTC.</p> Conclusions <p>SCV-MTC is a rare and diagnostically challenging entity that mimics other small round cell tumors. Absent or weak calcitonin expression complicates diagnosis. This case highlights the critical role of immunohistochemistry and clinicopathological correlation in identifying this aggressive variant, emphasizing the need for heightened clinical awareness.</p>

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When Small Cells Matter: A Unique Variant of Medullary Thyroid Carcinoma, A Case Report

  • 期刊论文

  • 发表日期：

    2025年10月16日

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  • Vinay N. Gowda,
  • Sudeep Khera,
  • Vidhu Sharma,
  • Tashmeen Sethi,
  • Rengarajan Rajagopal

摘要

Introduction

Medullary thyroid carcinoma (MTC) is a neuroendocrine malignancy arising from parafollicular C cells of the thyroid gland. The small cell variant of MTC (SCV-MTC) is an exceptionally rare subtype, known for its aggressive behaviour and diagnostic ambiguity, particularly when calcitonin expression is absent or minimal.

Case Presentation

A middle-aged male with a 4-year history of anterior neck swelling and recent dysphagia and hoarseness was evaluated. Imaging showed a large thyroid mass with retrosternal extension, bilateral cervical and mediastinal lymphadenopathy, skeletal metastases, and pleural effusions. Serum calcitonin was reported as 40 pg/mL, while anti-TPO, and PTH levels were normal; however, CEA and LDH were elevated. Biopsy revealed small round-to-oval cells with high N:C ratio, stippled chromatin, and high mitotic activity with immunohistochemistry profile suggesting a diagnosis of SCV-MTC.

Conclusions

SCV-MTC is a rare and diagnostically challenging entity that mimics other small round cell tumors. Absent or weak calcitonin expression complicates diagnosis. This case highlights the critical role of immunohistochemistry and clinicopathological correlation in identifying this aggressive variant, emphasizing the need for heightened clinical awareness.