Table 1 Clinical and biological characteristics of the three PV patients with the double JAK2- L611V/V617F mutation

From: JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5

  Na249 Na382 Di362
Sex Female Female Female
Age (years) 86 22 (58)a 71
Blood cell counts
 Leukocytes ( × 109/l) 6.6 9.5 (5.7)a 10.0
 Hemoglobin (g/dl) 20.1 21.0 (15.8)a 19.6
 Hematocrit (%) 62.1 64.0 (50.0)a 61.7
 Platelets ( × 109/l) 209 106 (131)a 159
Red cell mass (ml/kg) (%) 39 (189%) No data 45.5 (178%)
Palpable splenomegaly No No (no)a No
Serum Epo (IU/l) 4.8 No data 1.8
Endogenous colony assay (at the time of diagnosis) Negative Positivea Positive
 EEC (colonies/105 cells) 0 1 17
 EMC (colonies/105 cells) 0 0 0
Single JAK2-V617F mutant alleles
 At the time of diagnosis 2% Not done 0%
 During treatment with pipobroman 0%
 During treatment with hydroxyurea    
After 21 months 0%
After 28 months 0%
Double JAK2-L611V/V617F mutant alleles
 At the time of diagnosis    
Granulocyte gDNA 19% Not done 28%
Platelet cDNA 0% Not done Not done
Lymphocyte gDNA 0% Not done Not done
 During treatment with pipobromana 5%
16 months after interruption of pipobroman    
 Granulocyte gDNA (cDNA) 27% (28%)
 Platelet cDNA 14%
 Lymphocyte gDNA 0%
24 months after interruption of pipobroman 26%
33 months after interruption of pipobroman 27%
 During treatment with hydroxyurea    
After 21 months 0.8%
After 28 months 0.9%
  1. Abbreviations: EEC, endogenous erythroid colonies; EMC, endogenous megakaryocytic colonies.
  2. For all three patients, the biological and clinical information presented above were collected at the time of diagnosis.
  3. a For patient Na382, biological and clinical information was available after 36 years of disease evolution, when the patient was receiving treatment with pipobroman and phlebotomies. Single V617F-mutated alleles, found solely in patient Na249, were identified by the sense V617F AS-qPCR assay and confirmed by pyrosequencing of cloned PCR products. Double L611V/V617F-mutated alleles were identified by sense L611V and anti-sense V617F AS-qPCR assays, by pyrosequencing of granulocyte DNA and cloned PCR products, and by sequencing of granulocyte DNA and cloned PCR products.