Clinical and hematologic characteristics at diagnosis for the 17 patients carrying a JAK2 exon 12 mutation.
| UPN . | Sex/age . | Clinical diagnosis . | Hemoglobin level, g/L . | WBC count, 109/L . | PLT count, 109/L . | Serum Epo, mU/mL . | Palpable splenomegaly . | JAK2 exon 12 granulocytes . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| DNA alteration . | Predicted amino acid change . | Pattern on sequencing* . | ||||||||
| PaS39A3V | M/80 | PV | 185 | 11.8 | 514 | <2 | Yes | 1627-1632del6 | E543-D544del | Het |
| PaS33A4V | M/40 | PV | 238 | 6.8 | 308 | <2 | No | 1606-1638dup33 | V536-I546dup11 | Het |
| PaS90A6V | F/47 | PV | 191 | 7.3 | 261 | <2 | No | 1624-1629del6 | N542-E543del | Het |
| PaS25A4V | F/35 | PV | 170 | 10.0 | 274 | <2 | No | 1608-1640dup33 | F537-I546dup10+F547L | Hom |
| PaS116A6V | M/53 | PV | 220 | 5.8 | 366 | 3.2 | No | 1624-1629del6 | N542-E543del | Het |
| PaS1A7V | F/76 | PV | 172 | 6.1 | 788 | 3.5 | No | 1622-1627del6 | R541-E543delinsK | Het |
| PaS23A5V | F/78 | PV | 175 | 4.6 | 339 | <2 | No | 1627-1632del6 | E543-D544del | Het |
| PaS6A95V | M/47 | PV | 207 | 6.0 | 360 | 3.0 | No | 1624-1629del6 | N542-E543del | Het |
| PaS1A5V | F/53 | Familial PV | 167 | 4.2 | 306 | 3.6 | No | 1622-1627del6 | R541-E543delinsK | Het |
| PaS12A0V | M/58 | Familial PV | 230 | 5.7 | 144 | <2 | No | 1624-1629del6 | N542-E543del | Het |
| Ba002 | F/46 | PV | 226 | 6.0 | 215 | <2 | Yes | 1620-1621del2,1626-1629del4 | I540-E543delinsMK | Het |
| Ba041 | M/43 | PV | 214 | 7.5 | 297 | 17.2 | No | 1611-1616del6 | F537-K539delinsL | Het |
| Ba138 | F/69 | PV | 194 | 8.6 | 102 | <2 | No | 1613-1615del3, A1616T | H538-K539delinsL | Het |
| Ba166 | F/46 | PV | 170 | 9.0 | 956 | <2 | No | 1627-1632del6 | E543-D544del | Het |
| Ba221 | F/36 | PV | 171 | 9.3 | 689 | 3.0 | Yes | 1627-1632del6 | E543-D544del | Het |
| Vi0064 | F/64 | PV | 199 | 11.2 | 700 | <2.5 | No | 1627-1632del6 | E543-D544del | Het |
| Vi0327 | F/70 | PV | 177 | 5.7 | 253 | ND | No | 1627-1632del6 | E543-D544del | Het |
| UPN . | Sex/age . | Clinical diagnosis . | Hemoglobin level, g/L . | WBC count, 109/L . | PLT count, 109/L . | Serum Epo, mU/mL . | Palpable splenomegaly . | JAK2 exon 12 granulocytes . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| DNA alteration . | Predicted amino acid change . | Pattern on sequencing* . | ||||||||
| PaS39A3V | M/80 | PV | 185 | 11.8 | 514 | <2 | Yes | 1627-1632del6 | E543-D544del | Het |
| PaS33A4V | M/40 | PV | 238 | 6.8 | 308 | <2 | No | 1606-1638dup33 | V536-I546dup11 | Het |
| PaS90A6V | F/47 | PV | 191 | 7.3 | 261 | <2 | No | 1624-1629del6 | N542-E543del | Het |
| PaS25A4V | F/35 | PV | 170 | 10.0 | 274 | <2 | No | 1608-1640dup33 | F537-I546dup10+F547L | Hom |
| PaS116A6V | M/53 | PV | 220 | 5.8 | 366 | 3.2 | No | 1624-1629del6 | N542-E543del | Het |
| PaS1A7V | F/76 | PV | 172 | 6.1 | 788 | 3.5 | No | 1622-1627del6 | R541-E543delinsK | Het |
| PaS23A5V | F/78 | PV | 175 | 4.6 | 339 | <2 | No | 1627-1632del6 | E543-D544del | Het |
| PaS6A95V | M/47 | PV | 207 | 6.0 | 360 | 3.0 | No | 1624-1629del6 | N542-E543del | Het |
| PaS1A5V | F/53 | Familial PV | 167 | 4.2 | 306 | 3.6 | No | 1622-1627del6 | R541-E543delinsK | Het |
| PaS12A0V | M/58 | Familial PV | 230 | 5.7 | 144 | <2 | No | 1624-1629del6 | N542-E543del | Het |
| Ba002 | F/46 | PV | 226 | 6.0 | 215 | <2 | Yes | 1620-1621del2,1626-1629del4 | I540-E543delinsMK | Het |
| Ba041 | M/43 | PV | 214 | 7.5 | 297 | 17.2 | No | 1611-1616del6 | F537-K539delinsL | Het |
| Ba138 | F/69 | PV | 194 | 8.6 | 102 | <2 | No | 1613-1615del3, A1616T | H538-K539delinsL | Het |
| Ba166 | F/46 | PV | 170 | 9.0 | 956 | <2 | No | 1627-1632del6 | E543-D544del | Het |
| Ba221 | F/36 | PV | 171 | 9.3 | 689 | 3.0 | Yes | 1627-1632del6 | E543-D544del | Het |
| Vi0064 | F/64 | PV | 199 | 11.2 | 700 | <2.5 | No | 1627-1632del6 | E543-D544del | Het |
| Vi0327 | F/70 | PV | 177 | 5.7 | 253 | ND | No | 1627-1632del6 | E543-D544del | Het |
All T-cell DNA was wild-type. Reference ranges are as follows Hb, 130 to 170 g/L (males), 120 to 160 g/L (females); WBC count, 4 to 11 × 109/L; PLT, 100 to 400 × 109/L; serum Epo, 5 to 30 mU/mL.
UPN indicates unique patient number (Pa, Pavia; Ba, Basel; Vi, Vienna); PV, polycythemia vera; Epo, erythropoietin; ND, not determined; Het, heterozygous; and Hom, homozygous.
Analysis of heights of wild-type and mutant peaks showed proportions of mutant alleles ranging from approximately 10% to approximately 90% of total alleles.