Table 1.
Patient | Age range | Diagnosis according to clinical features | Expressed transcription factor | Extrasellar extension | Primary PA or relapse | Medical therapy before sampling | sDNA Sanger sequencing results | cfDNA analysis method | Number of variants in sDNA from WES | Transcripts obtained for NGS analysis |
---|---|---|---|---|---|---|---|---|---|---|
HA065 | 6−69 | NFPA | SF1 | Yes | Primary | No | No variant | NGS | 272 | 3 |
HA066 | 50–59 | NFPA | TPIT | Yes | Primary | No | No variant | NGS | 671 | 2 |
HA067 | 70–79 | NFPA | SF1 | Yes | Relapse | No | No variant | NGS | 6 | 5 |
HA068 | 60–69 | NFPA | nd | Yes | Primary | No | No variant | NGS | 1 | 0 |
HA069 | 60–69 | NFPA | nd | Yes | Primary | No | No variant | NGS and cast-PCR | 4 | 0 |
HA070 | 70–79 | NFPA | nd | Yes | Relapse | No | No variant | NGS and cast-PCR | 12 | 4 |
HA073 | 50–59 | NFPA | nd | Yes | Primary | No | No variant | NGS and cast-PCR | 10 | 2 |
HA074 | 40–49 | GHPA | PIT1 | No | Primary | Yes | GNAS c.601C>T | cast-PCR | 3 | – |
HA090 | 50-59 | GHPA | PIT1 | No | Primary | No | GNAS c.601C>T | NGS & cast-PCR | 2 | 1 |
HA091 | 40-49 | GHPA | PIT1 | Yes | Primary | No | GNAS c.601C>T | cast-PCR | 5 | – |
sDNA, somatic DNA; cfDNA, circulating free DNA; WES, whole-exome sequencing; IHC(P), immunohistochemical analysis done on formalin-fixed paraffin-embedded samples; GHPA, somatotropinoma; NFPA, non-functional pituitary adenoma; nd, no data, not performed.