Table 2. Molecular results for PIK3CA in nine patients with GLA.
| Patient | Age (y) | Sex | Sample | Method | Variant | Alt.var.freq% (wt;alt) |
|---|---|---|---|---|---|---|
| GLA002 | 17 | F | GLA002-Bone1 (iliac crest) | HB | − | 0 (186;0) |
| GLA002-Bone2 (sacrum) | AB | −a | 0.01 (38,548;5) | |||
| GLA002-Fascia tissue | AB | −a | 0.02 (34,032;6) | |||
| GLA002-LM (FFPE) | AB | c.3140A>G; p.His1047Arg | 23.0 (22,652;6,761) | |||
| GLA006 | 23 | M | GLA006-LM_1 | HB | − | 0 (277;0) |
| GLA006-LM_2 (FFPE) | AB | c.3140A>T; p.His1047Leu | 18.48 (12,007;2,722) | |||
| GLA011 | 20 | M | GLA011-LM | AB | − | − |
| GLA022 | 6 | F | GLA022-LM (FFPE) | AB | − | − |
| GLA038 | 15 | F | GLA038-LM | AB | − | − |
| GLA051 | 35 | F | GLA051-LM | HB | c.1624G>A; p.Glu542Lys | 3.5 (320;11) |
| GLA051-LM | AB | c.1624G>A; p.Glu542Lys | 1.1 (35,018;385) | |||
| GLA053 | 4 | M | GLA053-LM | AB | − | − |
| GLA054 | 38 | F | GLA054-LM | HB | c.1636C>A; p.Gln546Lys | 3.1 (624;20) |
| GLA054-LM | AB | c.1636C>A; p.Gln546Lys | 3.4 (51,752;1,780) | |||
| GLA054-LM-LECs | HB | c.1636C>A; p.Gln546Lys | 27.9 (277;107) | |||
| GLA061 | 16 | M | GLA061-LM | AB | c.1624G>A; p.Glu542Lys | 1.68 (73,577;1,234) |
| GLA061-LM-LECs | AB | c.1624G>A; p.Glu542Lys | 33.67 (36,999;12,459) |
AB, amplicon-based high-throughput sequencing; Alt.var.freq%, frequency of the alternative variant; F, female; HB, hybridization-based; M, male; wt;alt, number of reads for wild-type and alternative alleles.
a
Next-generation sequencing reads in the background noise range of the technique and cannot be considered as positive.