Table 1

NF1-related case data

CaseSex/ageTumor location/sample typeHomozygous deletionMSPRT-PCR
p15INK4bp14ARF/p16INK4a
ex1ex2ex1βex1αex2aex2bex3p15INK4bp14ARFp16INK4aHPRTp15INK4bp14ARFp16INK4a
1aam/16bPelvic region/Prn.e.n.e.Nn.e.NNNn.e.n.e.n.e.++++
1baSacral region/ReHDHDHDHDHDHDHDn.d.n.d.n.d.+
2af/9Left shoulder/ReHDHDHDHDHDHDHDn.d.n.d.n.d.+
3aaf/26Left thigh/PrNNNNHDNNn.e.UU+low
3baLeft thigh/ReNNNNHDNNUUU++
4af/39Paravertebral region/PrNNNNNNNUUUn.e.n.e.n.e.n.e.
5af/32Right thigh/ReHDHDHDHDHDHDHDn.d.n.d.n.d.+
6aam/29Popliteal region/1 PrNNNNNNNUUU++++
6baPopliteal region/ReNNNNNNNUUU++
6caParavertebral region/II Prn.e.n.e.n.e.n.e.n.e.n.e.n.e.n.e.MM++
7af/19Lung/MetHDHDNn.e.NNNn.d.UU+low++
8af/31Pelvic region/ReHDHDn.e.HDHDHDHDn.d.Un.d.+low
9m/27Right gluteus/PrNNNNNNNUUU++
10f/13Right arm/ReNNNNNNNUUU++++
11m/40Popliteal region/ReNNNNNNNUUU++
12m/23Omentum/ReNNNNNNNUUU++++
13m/23Axillary region/PrHDHDHDHDHDHDHDn.d.n.d.n.d.+
14f/8Left gluteus/ReNNNNNNNUUU+++
43%43%0%10%11%61%69%69%
  • a Case previously investigated.

  • b m, male; f, female; Re, recurrence; Pr, primary; Met, metastasis; ex, exon; HD, homozygous deletion; N, normal; n.d., not done; n.e., not evaluable; U, unmethylated; M, methylated; +, positive; −, negative.