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Published on: December 7, 2014
Impact of JAK2 V617F mutation on hemogram variation in patients with non-reactive elevated platelet counts
Juan Zhou1, Yuanxin Ye, Shugen Zeng
1Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Background:
Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation. Complete blood cell count (CBC) is essential in diagnosis of MPDs, however, the impact of JAK2 V617F mutation on the patients' hemogram variation remains not clear.
Methods:
JAK2 V617F mutation was detected by allele specific real-time quantitative fluorescence PCR (AS-qPCR).
Results:
Of the 402 non-reactive platelet elevating patients, JAK2 V617F mutation was detected in 222 (55.2%) patients. RBC counts, WBC counts, platelet-large contrast ratio (P-LCR), platelet distribution width (PDW) and mean platelet volume (MPV) were much higher in JAK2 V617F mutated patients, except platelet counts. In addition, when the patients were classified into subgroups by blood cell counts, it was found that JAK2 V617F mutation rate increased progressively with the increase of RBC counts and WBC counts, other than platelet counts. Furthermore, trilineage hyperplasia group showed highest JAK2 V617F mutation rate (93.26%), followed by the bilineage hyperplasia groups. Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). Further analysis revealed that in ET patients, JAK2 V617F mutant allele burden correlated with WBC counts and platelet counts positively, other than RBC counts, while in PV patients, it correlated with WBC counts and RBC counts positively, but not platelet counts.
Conclusions:
JAK2 V617F mutation occurs frequently in patients with non-reactive elevated platelet counts. The presence of JAK2 V617F mutation has great impact on hemogram variation, including RBC counts, WBC counts, platelet parameters and lineage hyperplasia, but not on platelet counts. Besides, JAK2 V617F mutant allele burden affects the blood cell proliferation pattern.
Insights
The JAK2 V617F mutation is common in patients with elevated platelet counts and significantly impacts red blood cell, white blood cell, and platelet parameters, but not platelet counts themselves.
Area of Science:
- Hematology
- Molecular Diagnostics
- Oncology
Background:
- Non-reactive thrombocytosis is often linked to myeloproliferative neoplasms (MPNs), frequently associated with the JAK2 V617F mutation.
- Complete blood count (CBC) is crucial for MPN diagnosis, yet the specific effects of the JAK2 V617F mutation on hemogram variations require further clarification.
Purpose of the Study:
- To investigate the association between JAK2 V617F mutation and hemogram variations in patients with non-reactive thrombocytosis.
- To determine the impact of JAK2 V617F mutation presence and allele burden on different blood cell counts and lineage hyperplasia.
Main Methods:
- JAK2 V617F mutation detection using allele-specific real-time quantitative fluorescence PCR (AS-qPCR).
- Analysis of complete blood count (CBC) parameters, including red blood cell (RBC) count, white blood cell (WBC) count, and various platelet indices (P-LCR, PDW, MPV).
- Correlation analysis between JAK2 V617F mutation status, allele burden, and hematological parameters in different MPN subtypes (PV, ET).
Main Results:
- JAK2 V617F mutation was detected in 55.2% of 402 patients with non-reactive thrombocytosis.
- Patients with JAK2 V617F mutation showed significantly higher RBC counts, WBC counts, and platelet indices (P-LCR, PDW, MPV), but not platelet counts.
- JAK2 V617F mutation rates increased with higher RBC and WBC counts, with trilineage hyperplasia showing the highest mutation rate (93.26%).
- JAK2 V617F mutant allele burden was higher in polycythemia vera (PV) than essential thrombocythemia (ET) and correlated positively with WBC and RBC counts in PV patients.
Conclusions:
- JAK2 V617F mutation is prevalent in non-reactive thrombocytosis and significantly influences hemogram parameters, excluding platelet count.
- The presence of JAK2 V617F mutation impacts RBC, WBC, and platelet indices, as well as lineage hyperplasia patterns.
- JAK2 V617F mutant allele burden is associated with specific blood cell proliferation patterns in MPNs, differing between PV and ET.
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