Table 4. Results of sixteen sarcoma patients treated with targeted therapy based on NGS results.
| Patients treated with targeted therapy based on NGS result | ||||
|---|---|---|---|---|
| Histology | Gene | Mutation | Treatment and Best response | Comments and Referenes |
| BRAIN GLIOSARCOMA | BRAF | V600E | vemurafenib —> PR | 86% decrease, duration of Response 16 months [44] |
| CARCINOSARCOMA | ESR1 | A569T | anastrozole plus everolimus —> PD | IHC for PTEN was positive. ER was 3+ per IHC. ESR1 is a resistance mutation |
| DEDIFFERENTIATED LIPOSARCOMA | ROS1 | amplification | ceritinib —> SD | Best response SD x5 months [20] |
| DEDIFFERENTIATED LIPOSARCOMA | MDM2 | amplification | MDM2 inhibitor —> PR | Best response PR x3 cycles |
| GASTROINTESTINAL STROMAL TUMOR | KIT,AKT | amplification | Imatinib - PD sutent -PD, regorafenib-PD,AKT inhibitor —> PR | Best response PR, progressed after 22 cycles. Initially dx as wt kit and pdgfr, FM later showed akt, kit, mdm4, MCL1 amplification |
| LEIOMYOSARCOMA | ROS1 | D1538V | pazopanib and crizotinib —> SD | SD x 6 months |
| LEIOMYOSARCOMA | PTEN | Loss | PI3K Inhibitor —> PD | Deceased after 3 days on study |
| LEIOMYOSARCOMA | ROS1 | D1538V | pazopanib and crizotinib —> PD | Patient deceased prior to restaging scans |
| PLEOMORPHIC SARCOMA | ALK | MEMO1-ALK fusion | ceritinib —> PD | Progressed after 4 cycles [20] |
| MYXOID LIPOSARCOMA | AKT1 | E17K | AKT inhibitor —> SD | Stopped after 1 cycle due to ggt elevation |
| OSTEOSARCOMA | PDGFRA | amplification | Sorafenib, Avastin, and Torisel —> PD | PD after 1 cycle [29] |
| SPINDLE CELL SARCOMA | BRAF | KIAA1549-BRAF fusion | Sorafenib, Avastin, and Torisel —> SD | Best response 28% reduction per RECIST. Also PTEN Loss. SD for 11 cycles, until death [31]. |
| WELL DIFFERENTIATED LIPOSARCOMA | MDM2 | amplification | MDM-2 —> SD | Best response SD x8 cycles |
| WELL DIFFERENTIATED LIPOSARCOMA | MDM2 | amplification | MDM2 inhibitor —> CR | On since 2008, has had several resections during this period. Now NED again |
| WELL DIFFERENTIATED LIPOSARCOMA | MDM2 | amplification | MDM2/MDMX inhibitor —> SD | Stopped after 2 cycles due to side effects |
| WELL DIFFERENTIATED LIPOSARCOMA | MDM2 | amplification | MDM2 inhibitor —> SD | SD x23 months, stopped due to patient preference |
All patients were treated on clinical trial. Eight patients had clinical benefit as defined by at least stable disease.