“BostonGene Genomic testing can help save your life like it has saved mine.”
Meet our patients
Read our case studies to learn how BostonGene Tumor Portrait™ Tests have enabled personalized treatment options based on molecular and immune profiles.
By sharing these inspirational stories, we hope to encourage all patients to undergo genomic testing to optimize their treatment options.
“Genetic testing should be standard for all cancer patients. It helped to find the best treatment for my case.“
“BostonGene gave me hope at a point where there was no path to take.”
“I recommend all cancer patients undergo BostonGene genomic testing.”
MarielaMetastatic Papillary Thyroid Carcinoma, 36 y.o.
Initial diagnosis - 1993In 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.More..."BostonGene Genomic testing can help save your life like it has saved mine."Scans from May 2021 show that the cancer has stopped spreading and that the tumors are shrinking. Mariela intends to live a long and full life, stating: “BostonGene Genomic testing can help save your life like it has saved mine. I haven't let cancer define me. I am 36 years old, I run a successful business, and I am beating cancer. There is nothing that can stand in the way of me achieving my goals, if I Pivot, Change and Adapt.”Mariela has these words of support for anyone facing the same challenges: “I encourage all cancer patients to undergo genomic testing. I am here today thanks to the wonderful collaboration between BostonGene, my doctor and the incredible team at the hospital. They found the mutation fusion of my cancer that enabled my doctor to know exactly what treatment to start me on.”Less
- 1994 - 1999Stable DiseaseRAI
- 2021Good ResponseLarotrectinib
ElviaBreast cancer, 60 y.o.
Initial diagnosis - 2021In May 2021, 60-year-old Elvia went in for a routine mammogram. Because Elvia has a history of fibrosis, she was not surprised that her doctors requested additional studies. She was then advised to have a biopsy. A standard IHC testing from that biopsy was consistent with a diagnosis of triple-negative breast cancer. Based on these results, Elvia started neoadjuvant treatment with pembrolizumab plus chemotherapy and plans for surgery were underway. However, scheduling surgery proved to be challenging due to a COVID diagnosis and her surgeon’s availability so Elvia transferred her care in late September 2021. Her new physician collected more scans, which indicated the tumor was progressing on the current regimen. To see a complete 360° view of her tumor, her doctor requested the BostonGene Tumor PortraitTM test, which revealed the cancer was not triple-negative and was, in fact, HER2 positive. When thinking back, Elvia says, “I cried when I heard the diagnosis.” These findings offered HER2-targeted treatment options, prompting a change to TCHP neoadjuvant therapy in January 2022. Repeat scans two months later during neoadjuvant therapy demonstrated 80% tumor shrinkage with this new HER2-directed treatment plan. After completion of neoadjuvant therapy, Elvia underwent surgery and was found to have a complete pathological response. For Elvia, integrated WES and RNA-seq analysis uncovered significant HER2 findings that were not found by the initial IHC test. When asked how she’s doing today, Elvia says, “Great, and I’ve been great since I got this new diagnosis. Everything was suddenly clear, like I woke up from a dream.” “Genetic testing should be standard for all cancer patients. It helped to find the best treatment for my case.“
- 2021Initial diagnosis
- 2021Partial ResponsePembrolizumab + Carboplatin + Paclitaxel
- 2022Good ResponseTrastuzumab + Pertuzumab
- 2022Complete ResponseComplete pathological response
CurtisDiffuse large B-cell lymphoma, 52 y.o.
Initial diagnosis - 2018While on a business trip in South Carolina during the summer of 2018, Curtis woke in the middle of the night with severe epigastric pain. He immediately found himself at the local hospital emergency room undergoing a series of tests that ultimately revealed he had cancer – non-Hodgkins lymphoma. In August 2020, Curtis was back in the hospital after his doctor found lymphoma was progressing in his lungs. With standard chemotherapy options historically not effective, it was time for him to seek other therapy options. Determined to find an alternative treatment, Curtis’ doctor suggested BostonGene conduct genomic testing. The results showed a very high expression of CD30, which is atypical for his type of lymphoma as well as unusual immune changes in his tumor. Based on this rare finding, Brentuximab, an antibody-drug conjugate medication that selectively targets tumor cells expressing the CD30 antigen, was added to a ‘cocktail’ of immune agents that Curtis received. In December 2020, after only four months of treatment, Curtis’ scans showed no evidence of a tumor. “A cancer diagnosis changes your perspective on what is important in life. Cancer leads to a total paradigm shift of priorities in life. If my doctor had not recommended BostonGene’s test, or we didn’t learn any new information on my cancer, I would not be here right now spending time with my family and friends. I feel very blessed that this is the way it worked out,” says Curtis. "BostonGene gave me hope at a point where there was no path to take."
- 2018Initial diagnostic
2018Stable DiseaseR-CHOP response
2020ProgressionCAR-T x 2
2020Complete ResponseNo evidence of a tumor
AnnaMetastatic Breast Cancer, 72 y.o.
Initial diagnosis - 2002Unlike the previous DNA sequencing tests that found no targetable alterations, BostonGene’s comprehensive whole exome and transcriptome analysis showed several novel findings, including elevated expression of FGFR1/2 and CDK6 compared to patients with a similar diagnosis. BostonGene’s solution helped to demonstrate availability of suitable clinical trials with novel targeted treatment regimes. “When my doctor called to say there was an option to be enrolled in a clinical trial, I felt such excitement and hope,” Anna recalls. Since June 2020, Anna has been treated with Abemaciclib (Verzenio™), a CDK4/6 inhibitor. Scans from February 2021 show that the pulmonary nodules and masses are shrinking, representing decreased metastatic disease. Anna remains committed to her treatment as long as it works. “We went from doing nothing to treat my cancer, to having an alternative treatment option that has slowed the cancer growth. Not only did BostonGene provide more information about my cancer, they provided me with hope,” Anna says. "I recommend all cancer patients undergo BostonGene genomic testing.”
- 2002Initial diagnosis
- 2002ProgressionChemotherapy, Radiotherapy
- 2010Partial ResponseChemotherapy
- 2017ProgressionRadiotherapy, Chemotherapy
- Jan, 2020Good ResponseAbemaciclib