Table 2. The cases received targeted therapy and their outcome.
Diagnosis | Mutation | Therapy | Outcome | Detail |
---|---|---|---|---|
High grade Salivary duct carcinoma | BRAFp.V600E | BRAF + MEK inhibitor | Near CR | Near complete response over 12 months |
Pleomorphic xanthoastrocytoma | BRAF p.V600E | BRAF inhibitor | MR/stable | Stable/no improvement for 10 months |
Malignant neoplasm in atrium | BRAFp.V600E | BRAF inhibitor | MR/stable | Mixed response, then progressed |
Glioblastoma (GBM), recurrent | BRAFp.V600E | Avastin + BRAF inhibitor + MEK inhibitor | Progress | Questionable response, then progressed and deceased |
Metastatic carcinoma of ovary | BRCA1c.5277+1 G > A | PARP inhibitor | Progress | Progressed |
Clear cell and papillary serous adenocarcinoma | BRCA1p.N1236S | PARP inhibitor | MR/stable | Stable for 3 months, then progressed |
Papillary serous carcinoma, recurrent | BRCA2p.Y1655* | PARP inhibitor | MR/stable | Stable |
Metastatic breast carcinoma, HER2 positive | PIK3CAp.H1047R | mTOR inhibitor with tamoxifen, trastuzumab, and radiation to the breast | MR/stable | Stable extra-mammary disease for sixteen months, breast disease progressing |
Metastatic mucinous adenocarcinoma in lung, consistent with breast primary | PIK3CAp.E545K | PI3K inhibitor + cdk4/6 inhibitor + hormonal therapy | PR | Partial response |
Metastatic adenocarcinoma in lung, consistent with breast primary | PIK3CAp.H1047R | PI3K inhibitor + CDK4/6 inhibitor + hormonal therapy | PR | Partial response |
Metastatic breast carcinoma in T9 bone | ESR1p.D538G | hormonal therapy, then CDK4/6 inhibitor | Progress | Stable for 1.5 months, then progressed |
Endometrioid adenocarcinoma of uterus | KRASp.G12V | MEK inhibitor | Progress | Progressed, then hospice |
Adenoid cystic carcinoma, metastasis | CDKN2Ac.151-2A > T | CDK4/6 inhibitor | Stopped | Not eligible for trial due to an open wound |
Metastatic poorly differentiated carcinoma in brain and bone | CDKN2Ap.R80* | CDK4/6 inhibitor or Phase I trial for MDM2 | Sopped | Now hospice |
Metastatic carcinoma, history of breast and endometrial carcinoma | PIK3CAp.Q546E | mTOR inhibitor | Progress | Progressed on mTOR inhibitor |
(CR: complete response, MR: mixed response, PR; partial response).