Table 3.
Genomic alterations identified by panel-sequencing of seven patients with MEN2B associated MTC
| Case# | Pt# | Age (years) |
Tumor Location |
Previous TKI |
Somatic Coding alterations |
CN Alterations (chromosome) |
Gene Breaks |
|---|---|---|---|---|---|---|---|
| 1# | 4 | 9 | Lymph Node | None | 1p del | BRCA1, TRAF7, PTEN | |
| 2 | 8 | 12 | Thyroid | None | |||
| 3 | 8 | 12 | Lymph Node | None | |||
| 4 | 17 | 9 | Thyroid | None | MUTYH p.Ala59Val | 1p del, 4 del, 9p del, 22 del | |
| 5 | 22λ | 15 | Thyroid | None | PRKAR1A sf | 1p del, 8 amp, 16 amp | CREBBP, RPTOR |
| 6 | 24λ | 12 | Thyroid | None | 1p del, 1q amp | ||
| 7 | 24λ | 16 | Prostate | None | SYNE1 sf | 1p del, 4 del | KMT2C |
| 8 | 7 | 19 | Lymph Node | vandetanib | EML4 p.Ile328Val, RET p.Leu790Phe | 14 del, 22 del, 1q amp, 16 amp | TRAF7 |
| 9* | 7 | 22 | Adrenal | vandetanib, sunitinib, sorafinib | 1q amp | TSC2, AXIN1 | |
| 10 | 8 | 16 | Prostate | vandetanib | SMARCA4 p.Leu783Arg | 13 del, 1q amp, 7 amp, 10 amp, 14 amp, 15 amp, 18 amp, 22 amp | KMT2C |
| 11 | 14 | 16 | Thyroid | vandetanib | 1p del, 3 del, 4 del, 9 del, 13 del, 14 del, 17p del, 1q amp, 17q amp | TRAF7, RPTOR |
Genomic alterations were predicted with computational methods. sf = sequence feature not in coding region, amp = Amplification, del = deletion.
#
normal sample unavailable,
λ
patient enrolled on the MTC natural history study (NCT01660984),
*
sample with low tumor %