Table 1 Details on patients´ characteristics and diagnostics
Characteristics | Patient CR1 | Patient CR2 |
|---|---|---|
Age/Gender | 12 y/female | 1 y/female |
Cancer | Osteosarcoma | Anaplastic ependymoma WHO °III/posterior fossa ependymoma methylation subgroup A |
Family history | - Paternal grandmother: renal cancer, died at about 60 years of age - Paternal grandaunt: leukemia, died at 50 years of age - Father: carrier of PMS2 variant - Parents non-consanguinous | - Mother: AML young adulthood - Maternal cousin: sarcoma, died aged 5 years - Parents: no carrier testing - Parents non-consanguinous |
MMR IHC (metastasis) | Loss of PMS2 expression in tumor tissue | Retained PMS2 expression |
MSI (metastasis) | MSI-H | MSI-L |
Other genetic results | - Hypermutation (tumor mutational burden 16.8) - Alternative lengthening of telomeres - LOH of PMS2 in tumor tissue | - Tumor mutational burden 0.6 - Alternative lengthening of telomeres - No gMSI in peripheral blood |
Sequencing (peripheral blood) | PMS2: c.1076dup p.(Leu359Phefs*6) heterozygous (class 5 according to the InSIGHT criteria) | PMS2: c.1 A > T p.? heterozygous (class 4 according to the InSIGHT criteria) |