Document Type

Conference Proceeding

Publication Date

5-1-2026

Abstract

Introduction- Anaplastic thyroid carcinoma (ATC) is a highly aggressive malignancy constituting about 1% of all the thyroid neoplasms. It has poor prognosis with median survival of around 3 to 6 months. Recent advancements with targeted therapies have improved the survival outcome in these patients. We report a case of anaplastic transformation of papillary thyroid cancer with BRAF V600E mutation who responded to targeted therapy. Case presentation- A 54 year old male presented with a palpable left sided mass. Labs were unremarkable but imaging with contrast enhanced CT scan showed a 3 cm left thyroid nodule with bilateral cervical lymphadenopathy. Biopsy revealed papillary thyroid cancer. He was scheduled for elective thyroidectomy with bilateral cervical lymph node dissection. During the course, his symptoms rapidly progressed with enlargement of the neck mass, dysphagia, dysphonia and pain. Biopsy showed anaplastic transformation of papillary thyroid cancer. Further workup revealed interval progression with left supraclavicular lymphadenopathy and pulmonary metastasis. The patient was admitted for emergent radiation and cisplatin based chemotherapy. His symptoms worsened while awaiting chemotherapy. Next generation sequencing identified BRAF V600E mutation, which is found in about 50% of the ATC. Targeted therapy was started with BRAF inhibitor, Dabrafenib (150 mg oral twice daily), and a MEK inhibitor, Trametinib (2 mg oral once daily) following which he experienced symptomatic relief in a few days. Further imaging with CT confirmed reduction in size of the primary tumor and cervical lymphadenopathy. Pembrolizumab, an immune checkpoint inhibitor, was chosen for maintenance therapy as immunohistochemistry demonstrated 100% PD-L1 expression. Patient remained symptom free until his recent 8 month follow up. Discussion- Anaplastic thyroid carcinoma (ATC) is classified as stage IV thyroid cancer, as it is the most aggressive form with rapid progression and poor prognosis. Aggressive nature of ATC requires multidisciplinary approach with radiotherapy, chemotherapy and surgery. Novel therapy with BRAF inhibitors (e.g, Dabrafenib) and MEK inhibitors (e.g, Trametinib), have transformed the therapeutic landscape. Next-generation sequencing (NGS) is required to identify mutations that drive ATC progression, like BRAF V600E mutation which is found in around 50% of ATC cases. Immunostaining identifies BRAF mutation which is essential to initiate treatment with Dabrafenib and Trametinib, leading to rapid symptomatic relief. These personalized therapies improve the survival outcomes with response rate (RR) of 69% and 1 year survival rate of 79%. Salvage immunotherapy with PD-1 inhibitors can be used in patients with NRAS and RAS mutations who may be resistant to BRAF inhibitors.

Comments

American College of Physicians Michigan Chapter and Society of Hospital Medicine Michigan Chapter 2026 Resident and Medical Student Day, May 1, 2026, Troy, MI

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