Table 1 Baseline characteristics of enrolled participants
From: Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
UK | France | US | Combined | |
|---|---|---|---|---|
N = 11 | N = 15 | N = 13 | N = 39 | |
Mean age, years (range) | 19.8 (5–44) | 16.4 (3–39) | 13.6 (3–48) | 16.6 (3–48) |
Gender F:M | 4:7 | 7:8 | 6:7 | 17:22 |
PIK3CA variant | ||||
c.3132T>A p.(Asn1044Lys) | 1/13 (8%) | 1/39 (3%) | ||
c.31327A>G p.(Met1043Val) | 1/15 (7%) | 1/39 (3%) | ||
c.31340A>G p.(His1047Arg) | 4/11 (36%) | 3/15 (20%) | 4/13 (31%) | 11/39 (28%) |
c.3140A>T p.(His1047Leu) | 2/15 (13%) | 1/13 (8%) | 3/39 (8%) | |
c.3139C>T p.(His1047Tyr) | 1/13 (8%) | 1/39 (3%) | ||
c.3073A>G p.(Thr1025Ala) | 1/11 (9%) | 1/39 (3%) | ||
c.1637A>G p.(Gly546Arg) | 1/15 (7%) | 1/39 (3%) | ||
c.1636C>A p.(Gly546Lys) | 1/15 (7%) | 1/39 (3%) | ||
c.1633G>A p.(Glu545Lys) | 2/15 (13%) | 2/39 (5%) | ||
c.1624G>A p.(Glu542Lys) | 1/11 (9%) | 3/15 (13%) | 2/13 (15%) | 6/39 (15%) |
c.1357G>A p.(Glu453Lys) | 2/13 (15%) | 2/39 (5%) | ||
c.1252G>A p.(Glu418Lys) | 1/11 (9%) | 1/39 (3%) | ||
c.1132T>C p.(Cys378Arg) | 1/13 (8%) | 1/39 (3%) | ||
c.1049A>G p.(Asp350Gly) | 1/11 (9%) | 1/39 (3%) | ||
c.1038_1040dup p.(Val346_Asn347insLys) | 1/11 (9%) | 1/39 (3%) | ||
c.1035T>A p.(Asn345Lys) | 1/15 (7%) | 1/39 (3%) | ||
c.328_330delGAA p.(Glu110del) | 1/11 (9%) | 1/15 (7%) | 1/13 (8%) | 3/39 (8%) |
c.241G>A p.(Glu81Lys) | 1/11 (9%) | 1/39 (3%) | ||
Mean start BMI (adults ≥16 years) kg/m 2 | 32.6 (24.9–41.8) | 24.1 (20.2–25.6) | 38.8 (27.0–49.4) | 31.8 (20.2–49.4) |
Mean start BSA m 2 (children <16 years) | 1.09 (0.63–1.51) | 1.13 (0.61–1.44) | 0.97 (0.62–1.36) | 1.06 (0.61–1.51) |
Site of overgrowth | ||||
Generalized | 3/11 (27%) | 2/15 (13%) | 3/13 (23%) | 8/39 (21%) |
Facial | 1/11 (9%) | 0 | 3/13 (23%) | 4/39 (10%) |
Upper limb only | 1/11 (9%) | 0 | 0 | 1/39 (3%) |
Lower limb only | 3/11 (27%) | 7/15 (47%) | 4/13 (31%) | 14/39 (36%) |
Upper and lower limbs | 0 | 1/15 (7%) | 2/13 (15%) | 3/39 (8%) |
Thoracic region only | 0 | 0 | 0 | 0 |
Thoracic region and limbs | 2/11 (9%) | 1/15 (7%) | 0 | 3/39 (8%) |
Truncal region only | 0 | 0 | 0 | |
Truncal region and limbs/thoracic region | 1/11 (9%) | 3/15 (20%) | 7/13 (54%) | 11/39 (28%) |
Vascular/venous malformations | 2/11 (18%) | 11/15 (73%) | 10/13 (77%) | 23/39 (59%) |
