Summary of the WES result
| Case | Diagnosis | WES result (Classification) |
|---|---|---|
| 1 | Relapsed acute lymphoblastic leukemia | c.5890_5906del (p.Ser1964Leufs*57) in NCOR2 |
| 2 | Recurrent osteosarcoma | c.7475C>T (p.Ser2492Leu) in COL6A3 |
| 3 | Recurrent colon cancer | c.757dupA (p.T253Nfs*11) (Tier III) in TP53 c.1082G>A (p.R361H) (Tier III) in SMAD4 c.1082G>A (p.R361H) (Tier III) in GNAS |
| 4 | Recurrent Wilms’ tumor | c.96+1G>C (Tier III) in TP53 |
Clinical manifestation and tissue pathology of 4 pediatric patients with relapsed or refractory cancers
| Case | Sex | Current age (year) | Presenting symptom | Histological features of tissue | Relapse time (month) | Histological feature of relapse | Treatment |
|---|---|---|---|---|---|---|---|
| 1 | Female | 14 | Fever with anemia at the age of 3 years for 2 weeks | Pre-B cell ALL |
| Lymphoblastic leukemia | Chemotherapy Radiation |
| 2 | Female | 15 | A palpable mass on the left rib (no.9) at the age of 10 years for 1 month | Osteogenic osteoma | 45 | Osteosarcoma | Surgery |
| 3 | Male | 14 | Abdominal pain at the age of 12 years for 3 days | Poorly differentiated adenocarcinoma, signet ring cells | 19 | Poorly differentiated adenocarcinoma, signet ring cells | Chemotherapy Surgery |
| 4 | Male | 6 | An abdominal mass at the age of 5 years | Nephroblastoma with favorable histology | 6 | Nephroblastoma | Surgery Chemotherapy |