TABLE 1.
Patient | Age at Diagnosis of NB | Clinical Presentation | Stage | Mutations | Diarrhea | Highest VIP Level with Diarrhea |
---|---|---|---|---|---|---|
1 | 19 months old | Abdominal primary w/ metastases in liver, lung, bone, and bone marrow | 4 |
Initial: BRAF p.V600E, MYCN Amplification Relapse: ALK p.F1174L, MYCN Amplification |
After chemotherapy | >3200pg/mL |
2 | 11 months old | Adrenal mass w/ metastases in liver and pleura | 4 | BRAF p.V600E, MYC-N amplification | After chemotherapy | 1416pg/mL |
3 | 4 months old | Adrenal mass w/ metastases in liver, soft tissue, and bone | 4 |
Biopsy: MYCN Amplification Resection: ALK p.R1275Q, BRAF p.V600E, MYCN Amplification |
None | N/A |
4 | 11 months old | Abdominal primary w/ extension to spinal canal | 3 | BRAF p.V600E | None | N/A |
5 | 17 months old | Abdominal primary | 2 | BRAF p.V600E | Before chemotherapy | 486pg/mL |
6 | 20 months old | Left neck mass | 2 | BRAF p.L597R | None | N/A |
7 | 9 years old | Abdominal primary w/ metastases to bone and bone marrow | 4 |
Initial: ALK p.R1275Q, MYCN Amplification, ATRX p.R250 Relapse: ALK p.R1275Q, BRAF p.G466E, ATRX p.R250 |
None | N/A |
8 | 11 years old | Adrenal primary w/ metastases in liver and bone | 4 | BRAF p.G469A, ATRX p.R1739Hfs*8 | None | N/A |
9 | 13 years old | Adrenal primary w/ metastases in liver, bone, and bone marrow | 4 | BRAF F595L | None | N/A |
10 | 21 months old | Abdominal primary w/ metastases in liver, bone marrow, bones | 4 | None | Before chemotherapy | >400 pg/mL |
11 | 21 months old | Abdominal primary | 3 | None | Before chemotherapy | 370 pg/mL |
12 | 2 years old | Abdominal primary w/ metastases in soft tissue of neck | 4 | None | Before chemotherapy | 142 pg/mL |
13 | 2 years old | Abdominal primary w/ metastases in soft tissue, pleura, bone marrow | 4 | None | Before chemotherapy | 184 pg/mL |