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Table 2 Patient characteristics and results of immunohistochemistry and mutation analyses

From: SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas

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
  1. Information on GNAQ/GNA11 mutation status and chromosome 3 status of cases 1–7, 10, 13–18, and 22–24 has been published previously [2, 22, 23]
  2. F female, M male, MC melanocytoma, IMT intermediate-grade melanocytic tumor, MM melanoma, LM leptomeningeal, na not available (BAP1 immunohistochemistry of cases #9–11) or not assessable, CPA cerebello-pontine angle
  3. + positive nuclear staining in 90 % or more of nuclei
  4. aGNAQQ209 or
  5. bGNA11Q209 or
  6. cNRASQ61 mutation present
  7. dthe SF3B1 mutation was not present in the congenital melanocytic nevus of this neurocutaneous melanocytosis patient
  8. ecases for which all 17 exons of the BAP1 gene were tested with Sanger sequencing and no mutations were detected