Figure 1. Workflow and results of selected patients.
Of the patients, 47,7% met only one criterion, 40,9% met two criteria,
9,1% met three criteria, and 2,3% met four criteria. 16 patients were
selected by family history (32%), 31 patients (50%) were selected by
tumor type (24 by tumor diagnosis and 7 by the presence of a somatic
variant detected in the tumor). 14 patients (28%) met the criteria for
a compatible phenotype, and 11 patients (22%) due to experiencing high
toxicity during treatment.
The patients selected by mutations present in the tumor were:
- High-grade neuroepithelial tumor with variants in BAP1 and BCOR in
tumor.
- Two patients with neuroblastoma and ALK somatic variant identified in
the tumor.
- Patient with osteosarcoma a TP53 somatic variant identified in tumor
- Patient with medulloblastoma and a TP53 somatic variant identified in
tumor
- Patient with parameningeal rhabdomyosarcoma that presents in the tumor
an NF1 rearrangement and a BCOR loss.
- Patient with schwannoma and deletion of FANCL in tumor.
”Pre-data” and ”post-data” information were compared. Interestingly
24% of patients did not meet any criteria on the “pre-data”
evaluation (at diagnosis), but did meet at least one criterion on the
specific appointment for familial cancer (post-data) (Figure2).