Signal Transduction and Targeted Therapy

Table 1 Patient characteristics with PIK3CA-related venous malformations

From: Targeted therapy for capillary-venous malformations

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Patient 11	Patient 12
Age (years)	34	24	29	3	16	49	43	23	42	43	15	44
DNA changes	c.1624G>A	c.1633G>A	c.1638G>T	c.1633G>A	c.3140A>G	c.1624G>A	c.3139C>T	c.1132T>C	c.1633G>A	c.1624G>A	c.1633G>A	c.1357G>A
VAF (%)^a	12	29	6	3	2	4	5	12	11	9.8	4.5	13
Amino Acid change	p.E542K	p.E545K	p.Q546H	p.E545K	p.H1047R	p.E542K	p.H1047Y	p.C378R	p.E545K	p.E542K	p.E545K	p.E453K
COSMIC^b Genomic mutation ID	55873227	55873239	55883555	55873239	55873195	55873227	55876499	55882697	55873239	55873227	55873239	55874585
Adverse events related to the venous malformation	DVT^c PE^d LIC^e	LIC Chronic bleedings	DVT PE LIC	LIC Chronic bleedings	DVT PE LIC Chronic bleedings	DVT PE LIC Chronic bleedings	LIC DVT	LIC DVT	DVT PE LIC Chronic bleedings	LIC DVT	DVT PE LIC	DVT PE LIC Chronic bleedings
Alpelisib (mg per day)	250	250	250	250	50	250	250	250	250	250	50	250
Volume of the malformation (cm³)
Prior to alpelisib introduction	9490800	2250120	587618	1487490	2468150	1319740	6683090	907853	1256600	2695840	615579	2081620
Six months following alpelisib introduction	5429780	530136	470094	797895	1913930	1198400	1705040	707840	663208	1929580	517086	1177580
Volume change following alpelisib (%)	−42.7	−76.4	−20	−46.3	−22.4	−9.2	−74.5	−22	−47.2	−28.4	−16	−43.3
Treatments prior to alpelisib	Scleroth.^f Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Rapamycin	Scleroth. Rapamycin	Scleroth. Surgeries	Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Rapamycin

	Patient 13	Patient 14	Patient 15	Patient 16
Age (years)	24	52	5	2
DNA changes	c.3139C>T	c.1258T>C	c.1633G>A	c.1624G>A
VAF (%)	10	2	6	2.2
Amino Acid change	p.H1047Y	p.C420R	p.E545K	p.E542K
COSMIC Genomic mutation ID	55876499	55874020	55873239	55873227
Adverse events related to the venous malformation	LIC Chronic bleedings	LIC DVT	DVT PE LIC	LIC DVT
Alpelisib (mg per day)	250	250	50	50
Volume of the malformation (cm³)
Prior to alpelisib introduction	3321126	790047	58892	279460
Six months following alpelisib introduction	3013445	703439	28032	240847
Volume change following alpelisib (%)	−9.2	−10.9	−52.4	−13.8
Treatments prior to alpelisib	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Surgeries Rapamycin	Rapamycin

^aVAF Variant allele frequency, corresponds to the percentage of alternate or mutant reads to total reads detected by next generation sequencing
^bCOSMIC Catalogue Of Somatic Mutations In Cancer
^cDVT Deep venous thrombosis
^dPE Pulmonary embolism
^eLIC Localized intravascular coagulation
^fScleroth. Sclerotherapies

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