In 1993 at just eight years old, a lump appeared on Mariela’s neck. Initially, Mariela’s parents wanted to have the lump removed due to the severe pain it was causing their daughter. However, a biopsy soon revealed that she had thyroid carcinoma. Shortly after her diagnosis, a family friend referred Mariela to a leading academic cancer center in the United States. Her doctor, a physician in the Department of Endocrine and Division of Internal Medicine, recommended surgery, and Mariela underwent a successful thyroidectomy at the age of nine. After the surgery, she was treated with radioactive iodine therapy (RAI), and over the next few years, she received three more rounds of RAI.
In 2020, Mariela noticed the growth of two lumps on her forehead and jaw. Leaving her feeling anxious, her doctor, a physician in the Department of Endocrine Neoplasia and Hormonal Disorders and Division of Internal Medicine at her treating hospital, proceeded to find out why she was suffering from both pain and numbness in her face. After a series of tests, multiple lesions were found in her lungs, left jaw, and skull. Several tests failed to detect anything for use in designing an appropriate course of treatment. Her doctor was determined to find treatment options and sent tissue samples from her 1994 thyroid removal tissue and tissue from the tumor removal from her left frontal skull to BostonGene for genomic testing. BostonGene’s Tumor Portrait™ test identified NTRK3 fusion (ETV6-NTRK3). Based on these findings, Mariela’s doctor started her on an FDA-approved NTRK inhibitor called Larotrectinib for treating cancers with NTRK fusion.