Patient with breast cancer which is resistant to hormone therapy.
This patient noticed a small tumor under his right nipple. It was surgically removed and turned out to be cancerous. Five years later the tumor spread to his lung and formed multiple lung metastasis. One of the metastasis was surgically removed and pathology examination confirmed the original diagnosis. In breast cancer three molecules are tested routinely for targeted therapy: The estrogen, the progesterone receptor and HER-2 receptor. In this tumor, estrogen receptor was detected. Therefore, the patient received therapy to block estrogen production and chemotherapy. However, despite of this treatment the tumors continued to grow, therefore his oncologist recommended an Oncompass™ test.
The Oncompass™ molecular diagnostics found abnormally high number of a gene which encodes the molecule, FGFR (Fibroblast Growth Factor Receptor). This molecule is known to stimulate the growth and survival of breast cancer cells and cause resistance to hormone therapy in estrogen receptor positive patients.
Oncompass™ Calculator identified several targeted compounds which target FGFR. These compounds are not in clinical use, but Oncompass™ found compound in a clinical trial in an oncology center in Cologne, Germany where investigators looked for FGFR mutant patients to treat them with an experimental FGFR inhibitor. In this trial, the patient clinical condition and previous treatments matched the inclusion criteria too. Oncompass contacted the investigators and organized the first visit. In this case, the study reimbursed the cost of the travel and accommodation as well.
The patient has been taking the experimental drug for more than 6 months now and his tumor stop growing.
Besides FGFR which occurs in 20-30% of cases, there are several other genes which can cause resistance to conventional therapies like hormone therapies, but provide targets for novel targeted therapies.
HER-2 gene amplification occurs in 20% of tumors but only half of them really sensitive to conventional anti-HER-2 targeted therapy. This can be caused by mutations in other cancer genes concomitantly present together with HER-2. Luckily, there are novel targeted drugs, which can be used in these too.
The other important group of breast cancer is the so-called „triple negative”. This means that all the three molecules routinely tested is negative. In other words, the molecule, which is responsible for tumor growth is not known. Oncompass™ can explore novel targets in these tumors as well.