Salutary Response to Targeted Therapy in Anaplastic Thyroid Cancer
| Autor: | Sasan Fazeli MD, Edina Paal MD, Jessica H. Maxwell MD, Kenneth D. Burman MD, Eric S. Nylen MD, Shikha G. Khosla MD, MHA |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Journal of Investigative Medicine High Impact Case Reports, Vol 7 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2324-7096 23247096 |
| DOI: | 10.1177/2324709619890942 |
| Popis: | Context . Anaplastic thyroid cancer (ATC) is an aggressive tumor with a median survival of 3 to 9 months, a 1-year survival of less than 10% and without definitive therapies. Recently, in BRAF V600E mutated ATCs, new targeted therapy using a combination of a BRAF inhibitor, dabrafenib (Dab), with a mitogen-activated extracellular protein kinase (MEK) inhibitor, trametinib (Tram), has shown significant promise. Case Description . We report a case of aggressive ATC with 5 sequence mutations: BRAF V600E (mutation fraction [MF] 34%), TERT E441del (MF 37%), RET N579K (MF 55%), EZH2 D154E (MF 60%), and CDK4 S259L (MF 48%). The patient had a dramatic response to the Dab/Tram combination with near complete resolution of his lung, bone, hepatic, and splenic lesions soon after starting therapy. Unfortunately, intolerable side effects (grade 2-3) on this regimen required tapering and discontinuation of the treatment. He had a quick resurgence of disease after stopping the combination therapy. The patient died approximately 3 months after discontinuing Dab/Tram. Autopsy revealed an atrophic thyroid gland with microscopic subcapsular focus of well-differentiated papillary thyroid carcinoma. There was extensive lymphatic spread of the tumor throughout bilateral lungs with fibrosis. No other metastatic site was identified. Conclusion . We report a unique case of ATC with 2 new mutations of EZH2 D154E and CDK S529L . This case exemplifies the significant promise Dab/Tram therapy holds, the potential side effects that limit their use, and autopsy findings status post use of this combination therapy. |
| Databáze: | Directory of Open Access Journals |
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