Table 1.
Clinical and mutation data of 14 Korean patients with LFS
| Patient | Agea) | Sex | Indication | Testing method | Testing result | Nucleotide alteration | Amino acid alteration | Mutation type | Tumor type (age at diagnosis, yr) | Local/systemic recurrence | Death | Follow-upb) (mo) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | M | Classic LFS criteria | Direct sequencing | LPV | c.817C>T | p.Arg273Cys | Missense | Rhabdomyosarcoma (1) | Yes | No | 25 |
| 2 | 4 | F | Chompret criteria | Direct sequencing | LPV | c.569C>T | p.Pro190Leu | Missense | Adrenal cortical carcinoma (4), thyroid cancer (10), osteosarcoma (11), osteoblastoma (12) | Yes | No | 188 |
| 3 | 7 | F | Chompret criteria | Direct sequencing | PV | c.524G>A | p.Arg175His | Missense | Brain tumor (7), breast cancer (24, 35), dermatofibrosarcoma (35), leukemia (38) | Yes | Yes | 375 |
| 4 | 13 | F | Classic LFS criteria | Direct sequencing | PV | c.818G>A | p.Arg273His | Missense | Mesenchymal chondrosarcoma (13) | No | No | 11 |
| 5 | 28 | F | Chompret criteria | Multigene panel NGS | LPV | c.569C>T | p.Pro190Leu | Missense | Breast cancer (28), colon cancer (28) | No | No | 8 |
| 6c) | 29 | F | Chompret criteria | Direct sequencing | LPV | c.413C>T | p.Ala138Val | Missense | Breast cancer (29) | No | No | 134 |
| 7 | 31 | F | Young age breast cancer with negative BRCA gene test | Direct sequencing | PV | c.733G>A | p.Gly245Ser | Missense | Breast cancer (31, 34) | No | No | 110 |
| 8 | 33 | F | Chompret criteria | Multigene panel NGS | PV | c.844C>T | p.Arg282Trp | Missense | Breast cancer (33), sarcoma (35), basal cell carcinoma (35) | No | No | 26 |
| 9 | 38 | F | Chompret criteria | Multigene panel NGS | PV | c.742C>T | p.Arg248Trp | Missense | Breast cancer (38, 38), thyroid cancer (38), endometrial cancer (39) | No | No | 26 |
| 10c) | 40 | F | Chompret criteria | Direct sequencing | LPV | c.413C>T | p.Ala138Val | Missense | Breast cancer (40) | No | No | 57 |
| 11 | 43 | F | Chompret criteria | Multigene panel NGS | LPV | c.517G>T | p.Val173Leu | Missense | Breast cancer (43), vaginal melanoma (52), thyroid cancer (52) | Yes | No | 123 |
| 12 | 47 | F | Multiple primary tumors | Multigene panel NGS | PV | c.517G>A | p.Val173Met | Missense | Breast cancer (47), ovarian cancer (55) | Yes | No | 100 |
| 13 | 64 | F | N/A | Multigene panel NGS | PV | c.637C>T | p.Arg213* | Nonsense | Pancreatic cancer (64) | No | No | 17 |
| 14 | 67 | F | N/A | Multigene panel NGS | PV | c.818G>A | p.Arg273His | Missense | Pancreatic cancer (67) | Yes | Yes | 24 |
F, female; LFS, Li-Fraumeni syndrome; LPV, likely pathogenic variant; M, male; N/A, not applicable; NGS, next-generation sequencing; PV, pathogenic variant.
a)
Age at diagnosis of the first tumor,
b)
Follow-up periods after the diagnosis of the first tumor,
c)
Patients in the same family.