دورية أكاديمية

Salutary Response to Targeted Therapy in Anaplastic Thyroid Cancer

التفاصيل البيبلوغرافية
العنوان: Salutary Response to Targeted Therapy in Anaplastic Thyroid Cancer
المؤلفون: Sasan Fazeli MD, Edina Paal MD, Jessica H. Maxwell MD, Kenneth D. Burman MD, Eric S. Nylen MD, Shikha G. Khosla MD, MHA
المصدر: Journal of Investigative Medicine High Impact Case Reports, Vol 7 (2019)
بيانات النشر: SAGE Publishing, 2019.
سنة النشر: 2019
المجموعة: LCC:Medicine (General)
LCC:Pathology
مصطلحات موضوعية: Medicine (General), R5-920, Pathology, RB1-214
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2324-7096
23247096
Relation: https://doaj.org/toc/2324-7096
DOI: 10.1177/2324709619890942
URL الوصول: https://doaj.org/article/a8688cca4a1848e8b639b3f7a67218b3
رقم الأكسشن: edsdoj.8688cca4a1848e8b639b3f7a67218b3
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:23247096
DOI:10.1177/2324709619890942