When do you evaluate or refer for a cancer predisposition syndrome in a young child diagnosed with a sarcoma?

There are a number of hereditary cancer syndromes associated with development of sarcoma in children, including Li-Fraumeni syndrome (LFS), DICER1 syndrome, Constitutional Mismatch Repair Deficiency (CMMRD), Neurofibromatosis 1, hereditary retinoblastoma, Beckwith Wiedemann syndrome, the RASopathies...

I would say if there is any question, just reach out to your local or regional Cancer Predisposition Program and ask. Additionally, there is MIPOGG (https://mipogg.com), an app that provides a fairly sophisticated approach to deciding if someone should be referred for genetic testing, or at least a ...

Also consider enrollment in the Children's Oncology Group (COG) project for every child with molecular characterization initiative (MCI), for children with rhabdomyosarcoma, soft tissue sarcoma, and osteosarcoma (Ewing to come hopefully soon). This will give you paired tumor-germline testing on an e...