Clinical Thyroidology / Case Report

Brandenburg T.a,b· Muchalla P.a,b· Theurer S.b,c· Schmid K.W.b,c· Führer D.a,b

Author affiliations

aDepartment of Endocrinology, Diabetes and Metabolism, Endocrine Tumour Center at West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
bEndocrine Tumour Center at West German Cancer Center, Member of ENDO-ERN and EURACAN, University Hospital Essen, University of Duisburg-Essen, Essen, Germany
cUniversity Duisburg-Essen, Institute of Pathology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Article / Publication Details

First-Page Preview

Received: January 20, 2021
Accepted: June 18, 2021
Published online: September 03, 2021

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1

ISSN: 2235-0640 (Print)
eISSN: 2235-0802 (Online)

For additional information: https://www.karger.com/ETJ

Abstract

Introduction: Primary squamous cell carcinoma (PSCC) of the thyroid is an exceptionally rare malignancy accounting for <1% of all primary thyroid cancers. Therapy is multimodal including surgery, radiotherapy, and chemotherapy but with no consensus for management and therapy. Here, we describe a case of a male patient who presented with a BRAF V600E-mutated PSCC of the thyroid gland showing response to combined dabrafenib and trametinib therapy over a period of >12 months. Case Presentation: A 78-year-old male patient presented with a 3-week history of dysphonia and dyspnoea. Laryngoscopy revealed a mechanical obstruction by a right-sided, subglottical mass, which on cervical ultrasound was highly suggestive of anaplastic thyroid carcinoma. Additional workup including esophagogastroduodenoscopy showed compression of the oesophagus but no oesophageal infiltration by the tumour. Immunohistochemistry displayed CK19-positive cells indicating epithelial origin of the tumour. CK5/6 and P40 immunohistochemistry confirmed the morphological impression of squamous cell differentiation while staining with thyroid markers TTF-1 and TPO was negative and PAX8 showed a nuclear positive signal. Based on immunohistopathology, presence of TP53 and BRAF V600E mutations, and exclusion of metastatic squamous cell carcinoma of other origin, the diagnosis of a PSCC of the thyroid was established. As an individualized treatment concept, we decided to advocate combined BRAF V600E targeting by the multikinase inhibitors dabrafenib and trametinib. This led to drastic improvement in patient’s quality of life without severe side effects over a period of >12 months. Conclusion: In this case, molecular diagnosis allowed a highly individualized treatment concept with combined dabrafenib and trametinib therapy.

© 2021 European Thyroid Association Published by S. Karger AG, Basel

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First-Page Preview

Received: January 20, 2021
Accepted: June 18, 2021
Published online: September 03, 2021

Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1

ISSN: 2235-0640 (Print)
eISSN: 2235-0802 (Online)

For additional information: https://www.karger.com/ETJ

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