# Anaplastic Thyroid Carcinoma With Horner Syndrome and Unusual Metastasis Reveals Masked Papillary Thyroid Carcinoma Following Neoadjuvant Therapy

**Authors:** Zain Akhtar, Humberto López Castillo, Deepa Taneja

PMC · DOI: 10.1016/j.aed.2025.09.004 · AACE Endocrinology and Diabetes · 2025-10-21

## TL;DR

A rare case of anaplastic thyroid cancer revealed a hidden papillary thyroid cancer after treatment, highlighting unusual tumor behavior and symptoms.

## Contribution

This case report presents a rare instance of two independent thyroid tumors with distinct origins in a single patient.

## Key findings

- Anaplastic thyroid carcinoma presented with Horner syndrome and unusual metastasis.
- Neoadjuvant therapy revealed a masked non-BRAF-mutated papillary thyroid carcinoma.
- Comorbid thyroid malignancies with independent origins are exceptionally rare.

## Abstract

Anaplastic thyroid carcinoma (ATC) is a rare thyroid cancer that has the propensity to be hyperactive and is characterized by the dedifferentiation of follicular cells leading to pleomorphism. This report highlights a 68-year-old man’s progression of ATC with an unusual presentation and secondary symptoms revealed to be masking an independent tumor cell origin residual papillary thyroid carcinoma following targeted treatment.

A 68-year-old man presenting with a history of aortic aneurysm and hyperlipidemia was referred for type 2 diabetes mellitus complications. He had a successful aneurysm repair; however, follow-up imaging revealed a thyroid mass, cystic lesions in the pancreas and liver, and extensive lymphadenopathy, and he endorsed symptoms of Horner syndrome. Fine-needle aspiration suggested ATC, and sequencing confirmed a BRAF V600E allelic variant. He began neoadjuvant BRAF/MEK inhibitor therapy to shrink the tumor and resolve metastasis. After a right thyroid lobectomy, pathology revealed a hidden non-BRAF-mutated papillary thyroid carcinoma. He is currently under multidisciplinary care and being considered for total thyroidectomy.

Normally, comorbid thyroid malignancies arise from identical follicular sequence variants. It is unusual to observe 2 independent origins from comorbid thyroid cancers. In addition, the development of Horner syndrome from thyroid cancer, especially anaplastic, is incredibly rare.

This case is a unique depiction of how ATC can present despite uncharacteristic immunohistochemical markers, secondary symptoms, and hidden comorbidities. As an understudied malignancy, it is important to recognize this condition’s variability to prevent increased mortality and morbidity.

## Linked entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673]
- **Diseases:** anaplastic thyroid carcinoma (MONDO:0006468), Horner syndrome (MONDO:0001294), type 2 diabetes mellitus (MONDO:0005148), papillary thyroid carcinoma (MONDO:0005075), hyperlipidemia (MONDO:0021187), aortic aneurysm (MONDO:0005160)

## Full-text entities

- **Genes:** MAP2K7 (mitogen-activated protein kinase kinase 7) [NCBI Gene 5609] {aka JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7}, BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}
- **Diseases:** lymphadenopathy (MESH:D008206), ATC (MESH:D065646), Metastasis (MESH:D009362), aortic aneurysm (MESH:D001014), aneurysm (MESH:D000783), type 2 diabetes mellitus (MESH:D003924), malignancy (MESH:D009369), Papillary Thyroid Carcinoma (MESH:D000077273), Horner Syndrome (MESH:D006732), thyroid mass (MESH:C536030), hyperlipidemia (MESH:D006949), thyroid cancer (MESH:D013964)
- **Mutations:** V600E

## Full text

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## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12866176/full.md

## References

18 references — full list in the complete paper: https://tomesphere.com/paper/PMC12866176/full.md

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Source: https://tomesphere.com/paper/PMC12866176