Table 2 Patient characteristics with TEK-related venous malformations

	Patient 17	Patient 18	Patient 19	Patient 20	Patient 21	Patient 22	Patient 23	Patient 24	Patient 25
Age (years)	16	36	11	22	29	28	52	37	49
DNA changes	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C	c.2742A>C
VAF (%)^a	7	4	3	2	3	10	5	17.4	1.7
Amino Acid change	p.L914F	p.L914F	p.L914F	p.L914F	p.L914F	p.L914F	p.L914F	p.L914F	p.L914F
COSMIC^b Genomic mutation ID	59134128	59134128	59134128	59134128	59134128	59134128	59134128	59134128	59134128
Adverse events related to the venous malformation	LIC^c Chronic bleedings	LIC Chronic bleedings	DVT^d PE^e LIC	DVT PE LIC	LIC DVT	LIC DVT	LIC Chronic bleedings	LIC DVT	DVT PE LIC
Alpelisib (mg per day)	50	250	50	250	250	250	250	250	250
Volume of the malformation (cm³)
Prior to alpelisib introduction	1447195	3453560	1424180	489565	478704	998287	1060207	5651740	14818100
Six months following alpelisib introduction	1332726	2944040	1331550	289778	433612	657466	481073,8	3875720	6890640
Volume change following alpelisib (%)	−7.9	−14.7	−6.5	−40.8	−9.4	−34.4	−54.6	−31.4	−53.5
Treatments prior to alpelisib	Scleroth.^f Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries Rapamycin	Scleroth. Surgeries 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
^cLIC Localized intravascular coagulation
^dDVT Deep venous thrombosis
^ePE Pulmonary embolism
^fScleroth. Sclerotherapies

Quick links

Search