JAK2V617F mutation in ECs from spleen vessels
| Patient no. . | JAK2V617F allele burden of PMNs . | JAK2V617F spleen . | JAK2V617F splenic vein . | ||||
|---|---|---|---|---|---|---|---|
| LM . | ECs . | ECFCs . | Sorting . | ||||
| CD34+ ECs . | CD31+ ECs . | ||||||
| 1 | 48% | 1Het/2WT/4NA | 2Het/1WT/ | ND | ND | ND | ND |
| 2 | 39% | 3Het/1WT | 3 Het | ND | ND | ND | ND |
| 3 | 49% | 1Het/1NA | 1 Het/2WT | NG | WT | ND | ND |
| 4 | 52% | 2Het | 2 Het/1NA | ND | ND | ND | ND |
| 5 | 69% | 1Hom/1Het2/WT | 3 Het | ND | ND | ND | ND |
| 6 | 81% | 2Hom/3Het | 1Hom/2Het | Hom | WT | Hom | Hom* |
| 7 | 100% | ND | ND | NG | WT | ND | ND |
| 8 | 34% | 1Het/1WT | 1Het/2WT | Het | NG | ND | ND |
| 9 | 49% | ND | ND | WT | WT | ND | WT |
| 10 | 60% | ND | ND | NG | WT | ND | WT |
| 11 | 96% | ND | ND | Het† | NG | ND | WT |
| 12 | 93% | ND | ND | WT | NG | ND | WT |
| 13 | 78% | ND | ND | WT | NG | ND | NG |
| 14 | 15% | ND | ND | Het | WT | ND | NG |
| 15 | 65% | ND | ND | Het | WT | ND | NG |
| 16 | 59% | 2Hom/1Het/2WT | 1Hom/1Het/1WT | WT | WT | Het | WT |
| 17 | 65% | ND | ND | Hom | NG | ND | NG |
| 18 | 45% | ND | ND | NG | NG | ND | NG |
| Patient no. . | JAK2V617F allele burden of PMNs . | JAK2V617F spleen . | JAK2V617F splenic vein . | ||||
|---|---|---|---|---|---|---|---|
| LM . | ECs . | ECFCs . | Sorting . | ||||
| CD34+ ECs . | CD31+ ECs . | ||||||
| 1 | 48% | 1Het/2WT/4NA | 2Het/1WT/ | ND | ND | ND | ND |
| 2 | 39% | 3Het/1WT | 3 Het | ND | ND | ND | ND |
| 3 | 49% | 1Het/1NA | 1 Het/2WT | NG | WT | ND | ND |
| 4 | 52% | 2Het | 2 Het/1NA | ND | ND | ND | ND |
| 5 | 69% | 1Hom/1Het2/WT | 3 Het | ND | ND | ND | ND |
| 6 | 81% | 2Hom/3Het | 1Hom/2Het | Hom | WT | Hom | Hom* |
| 7 | 100% | ND | ND | NG | WT | ND | ND |
| 8 | 34% | 1Het/1WT | 1Het/2WT | Het | NG | ND | ND |
| 9 | 49% | ND | ND | WT | WT | ND | WT |
| 10 | 60% | ND | ND | NG | WT | ND | WT |
| 11 | 96% | ND | ND | Het† | NG | ND | WT |
| 12 | 93% | ND | ND | WT | NG | ND | WT |
| 13 | 78% | ND | ND | WT | NG | ND | NG |
| 14 | 15% | ND | ND | Het | WT | ND | NG |
| 15 | 65% | ND | ND | Het | WT | ND | NG |
| 16 | 59% | 2Hom/1Het/2WT | 1Hom/1Het/1WT | WT | WT | Het | WT |
| 17 | 65% | ND | ND | Hom | NG | ND | NG |
| 18 | 45% | ND | ND | NG | NG | ND | NG |
PMNs indicates polymorphonuclear cells; Het, heterozygous; Hom, homozygous; NA, not amplified; WT, wild-type; ND, not done; and NG, no growth. Numbers in the LM column refer to the number of samples (approximately 100 ECs each) that displayed the reported genotype.
Both ECs from LM (CD34+ and CD31+) and from in vitro culture displayed a homozygous genotype for JAK2V617F.
This EC sample was contaminated by 30% CD45+ cells.