Table 2 Patient characteristics and results of immunohistochemistry and mutation analyses
Patient | Sex | Age | Diagnosis | Location | BAP1 immunostaining | Chrom 3 | SF3B1 exon 14 (codon 625) | SF3B1 exon 15 (codon 700) | EIF1AX exon 1 | EIF1AX exon 2 | Follow-up |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 27 | MC | Right CPA | + (80 %) | disomy | wt | wt | Intron c.1–4C > T | wt | local recurrence |
2a | M | 41 | MC | C0-C3 | + | disomy | wt | wt | c.9G > C (p.(Lys3Asn)) | wt | local recurrence and LM seeding 3 years after diagnosis |
3a | M | 47 | MC | Extramedullary, intradural | + | disomy | wt | wt | wt | na | local recurrence and LM seeding shortly after initial presentation |
4a | M | 27 | MC | Tentorium cerebelli | + (80 %) | na | c.1900G > A (p.(Val634Ile)) | wt | wt | na | LM seeding shortly after initial presentation |
5 | M | 38 | MC | C5–6 | + | na | wt | na | na | na | tumor spread in neck and vertebra; deceased |
6a | M | 41 | MC | Th6 | na | na | wt | wt | na | na | local recurrence; no distant metastasis |
7a | V | 57 | MC | Th11 | + | disomy | wt | wt | wt | wt | unknown |
8b | F | 62 | MC | C0-C1 | + | na | wt | wt | wt | wt | unknown |
9 | F | 23 | MC | Fossa posterior | na | na | wt | wt | wt | wt | local recurrence after 2 years |
10a | M | 55 | MC | C3–6 | na | na | wt | wt | wt | na | local recurrence 8 years after diagnosis |
11a | M | na | MC | Spinal region | na | na | wt | wt | wt | wt | unknown |
12 | M | 69 | MC | Conus medullaris | + | na | wt | wt | wt | wt | alive |
13 | M | 37 | MC | Left CPA | + | na | wt | wt | wt | wt | unknown |
14b | F | 68 | IMT | Tentorium cerebelli | + | disomy | wt | wt | c.11A > G (p.(Asn4Ser)) | wt | deceased (not disease related) |
15a | V | 44 | IMT | Cauda | + | disomy | wt | wt | wt | wt | stable (no recurrence) |
16a | M | 41 | IMT | Intramedullary (NOS) | + | disomy | wt | wt | wt | c.25G > C (p.(Gly9Arg)) | local recurrence and LM seeding |
17b | V | 59 | IMT | Vermis cerebelli | + | na | wt | wt | wt | wt | unknown |
18b | F | 30 | IMT | Th10–11 | + | disomy | c.1873C > T (p.(Arg625Cys)) | wt | wt | wt | leptomeningeal seeding; deceased (disease related) |
19a | F | 53 | IMT | Th9 | + | na | wt | wt | wt | c.28A > G (p.(Lys10Glu)) | liver metastasis shortly after diagnosis |
20a,e | F | 48 | IMT | Cervical spinal region | + | disomy | wt | wt | wt | wt | local recurrence after 3 years; distant metastasis to liver and pancreas 1 year later; deceased 5 years after initial presentation |
21c | F | 31 | MM | Frontal left | + | disomy | c.1874G > A (p.(Arg625His)) d | wt | wt | neurocutaneous melanocytosis patient; the SF3B1 mutation was only present in the CNS melanoma and not in the congenital melanocytic nevus of the skin | |
22a | M | 62 | MM | Th7–9 | + | na | na | na | c.9G > C (p.(Lys3Asn)) | na | unknown |
23a,e | F | 59 | MM | S2 | + | Monosomy 3 | wt | wt | wt | wt | distant metastases after 2 years (bone, lungs); liver metastasis unknown |
24a,e | M | 55 | MM | L1-L2 | + | na | wt | wt | wt | wt | leptomeningeal seeding 1 year after initial presentation; no distant metastases; deceased |