Case Report, Clin Oncol Case Rep Vol: 4 Issue: 6
Metastatic Thymic Carcinoma with novel KIT mutations masquerading as a Carcinoma of Unknown Primary Site
AGabriel Roman Souza1, Sarah Hackman2, Kayla E Chamberlin3, Dmytro Kovalskyy4, Amy L Mumbower5, and Daruka Mahadevan3*
1Department of Internal Medicine, University of Texas Health Science Center San Antonio, Texas, United States of America
2Department of Pathology, University of Texas Health Science Center San Antonio, Texas, United States of America
3Mays Cancer Center, MD Anderson Cancer Center, University of Texas Health San Antonio, Texas, United States of America
4Department of Biochemistry, University of Texas Health Science Center San Antonio, Texas, United States of America
5Department of Radiology, University of Texas Health Science Center San Antonio, Texas, United States of America
*Corresponding Author : Daruka Mahadevan
Daruka Mahadevan, Mays Cancer Center, MD Anderson Cancer Center, Institute for Drug Development, University of Texas Health San Antonio, 7979 Wurzbach R, 3rd FL Zeller Bldg Z300 Drs Area, San Antonio, TX, 78229, United States
E-mail: mahadevand@uthscsa.edu
Received: May 07, 2021 Accepted: June 23, 2021 Published: June 30, 2021
Citation: Souza GR, Hackman S, Chamberlin KE, Kovalskyy D, Mumbower AL, et al. (2021) Metastatic Thymic Carcinoma with Novel KIT Mutations Masquerading as a Carcinoma of Unknown Primary Site. Clin Oncol Case Rep 4:6.
Abstract
A patient diagnosed with thymic carcinoma was found to have three KIT mutations (F522C, V560del, and Y823S), two of them not previously documented. In addition, this is the first reported case of thymic carcinoma with more than one pathogenic KIT mutation. He was initially treated with imatinib mesylate (IM) with a minor response. Subsequently, IM was discontinued, and he was treated with cisplatin plus gemcitabine with clinical and radiologic response. A repeat liquid biopsy showed total suppression of V560del, Y823S, F522C, and KRAS amplification.