Patient | Mutation | Gender | Age | T | N | M | Ki-67% | function | Surgery | Follow-up Status | Years | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
ENETS | UICC | |||||||||||
A | Exon 2, del 4 bp (c.247_250delCTGT); - > Termination after amino acid 116 | m | 29 | 3 | 2 | 0 | 0 | 2 | F (WDHA-Syndrome) | TP | DF | 12 |
B | Intron 4, G > A -9 bp - > Alternative splicing | f | 60 | 2 | 2 | 1 | 0 | 8 | NF | TP | PD (M?) | 10 |
C | Exon 9, Q405X, CAG > TAG (Gln > Stop) - > Termination after amino acid 404 | m | 60 | 2 | 2 | 0 | 0 | 2 | NF | TP | DF | 7 |
D | Exon 3, Codon 179 GAG>AAG (Glu > Lys) - > AS Exchange | m | 15 | 2 | 1 | 0 | 0 | 3 | F (Hyper-insulinism) | DP | DF | 29 |
E | Exon 4, p.I247N, ATT > AAT (Ile > Asn) WORLDWIDE INDEX-CASE | f | 38 | 2 | 2 | 0 | 0 | 1 | NF | TP | DF [+] | 4 |
F | Exon 3, del4bp (amino acid 210/211) - > Termination after amino acid 209 | m | 33 | 3 | 2 | 1 | 0 | 1 | F (subclinical Hyper-insulinism) | DP, E | PD (N) | 21 |