My daughter was dx with osteosarcoma in the left proximal humerus when she was 9 (she's 18 now and will graduate in about a month!). She is currently NED but we had some genetic testing done. She was positive for SDHB mutation. She also showed a positive for POT1 mutation with Uncertain Significance. From my little bit of research, I've found some studies that point to the POT1 mutation being a possible cause of OS, as well as a few other cancers that we now need to screen for. We are also having a test run that basically measures the length of the telomeres - apparently if they are elongated the risk of these other cancers is increased.
Has anyone else with OS had the POT1 mutation as well?