Contributions
Abstract: PB2039
Type: Publication Only
Background
Idiopathic erythrocytosis (IE) is a relatively rare finding characterized by an increased red blood cell mass without an identifiable cause. Diagnosis of IE is based on the exclusion of primary and secondary erythrocytosis including JAK2-wild-type polycythemia Vera (PV).
Aims
In the current study, we report clinical features and laboratory data able to discriminate IE from PV, at diagnosis
Methods
We have here analyzed clinical and laboratory parameters, including Jak-2 46/1 haplotype, from patients with a confirmed diagnosis of IE and PV, followed from January 2010 to December 2016. Data were statistically analyzed, nominal variables were compared with X2 test and continuous variables with the Mann-Whitney test.
Results
Overall, 40 patients with IE and 93 patients with PV were included in the current analysis (Table 1). Splenomegaly and itch were reported only in one patient with IE. History of thrombosis and cardiovascular events was positive in one case with IE. Jak-2 (V617F) and exon 12 mutations were negative in all patients with IE, while Jak-2 46/1 haplotype was found at heterozygous state in 18 patients and at homozygous state in 2 patients with IE.
PV | IE | p | |
Patients N. | 93 | 40 | |
MALE N. (%) | 59 (63,44% | 38 (95%) | 0.0001 |
FEMALE N (%) | 34 (36.56%) | 2 (5 %) | 0.0001 |
MEDIAN AGE AT DIAGNOSIS, YEARS | 66 (23 - 95) | 58 (17 - 83) | 0.007 |
SPLENOMEGALY N° (%) | 38 (40,86%) | 1 (2,5%) | 0.000001 |
ITCH | 36 (38,70%) | 1 (2,5 %) | 0.00000 1 |
MEDIAN WBC COUNT X109 | 9,3 (4,535,2) | 8.1 (4,2-14,3) | 0.03 |
MEDIAN HB g/dl | 17,5 (15,1-21,0) | 17,4 (16,1-19.1) | 0.9 |
MEDIAN HT % | 53,3 (48.4 - 64.3) | 52,4 (48.2 - 55.3) | 0.1 |
MEDIAN PLTS COUNT X 109 | 435.0 (270-1013) | 216 (178.339) | 0.001 |
V617 F OF JAK2 POSITIVE N. (%) | 86 (92,47) | 0 | |
JAK2 EXON 12 MUTATION N. (%) | 2 (2,15%) | 0 | |
HAPLOTYPE 46/1 OF JAK2, ETHEROZIGOUS | 42 (45,16%) | 18 (45,0%) | 0,98 |
HAPLOTYPE 46/1 OF JAK 2, HOMOZIGOUS | 25 (26,88%) | 2 (5 %) | 0.008 |
PATIENTS WITH CARDIOVASCULAR EVENTS OR THROMBOSIS N % | 32 (34,4%) | 1 (2,5%) | 0.000008 |
Conclusion
In the current study, we highlight peculiar clinical and laboratory findings of IE, in comparison with Polycythemia Vera. As shown by available studies, Hb and HCT level do not easily discriminate between the two categories of patients while gene panels may be useful to improve diagnostic accuracy of IE. We have here first observed the presence of Jak-2 46/1 haplotype in approximately half patients with IE, even in absence of JAk-2 mutations; the homozygous status was statistically different among PV and IE patients. The role of such association deserves further specific studies.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Polycythemia vera, Haplotype analysis, erythrocytosis
Abstract: PB2039
Type: Publication Only
Background
Idiopathic erythrocytosis (IE) is a relatively rare finding characterized by an increased red blood cell mass without an identifiable cause. Diagnosis of IE is based on the exclusion of primary and secondary erythrocytosis including JAK2-wild-type polycythemia Vera (PV).
Aims
In the current study, we report clinical features and laboratory data able to discriminate IE from PV, at diagnosis
Methods
We have here analyzed clinical and laboratory parameters, including Jak-2 46/1 haplotype, from patients with a confirmed diagnosis of IE and PV, followed from January 2010 to December 2016. Data were statistically analyzed, nominal variables were compared with X2 test and continuous variables with the Mann-Whitney test.
Results
Overall, 40 patients with IE and 93 patients with PV were included in the current analysis (Table 1). Splenomegaly and itch were reported only in one patient with IE. History of thrombosis and cardiovascular events was positive in one case with IE. Jak-2 (V617F) and exon 12 mutations were negative in all patients with IE, while Jak-2 46/1 haplotype was found at heterozygous state in 18 patients and at homozygous state in 2 patients with IE.
PV | IE | p | |
Patients N. | 93 | 40 | |
MALE N. (%) | 59 (63,44% | 38 (95%) | 0.0001 |
FEMALE N (%) | 34 (36.56%) | 2 (5 %) | 0.0001 |
MEDIAN AGE AT DIAGNOSIS, YEARS | 66 (23 - 95) | 58 (17 - 83) | 0.007 |
SPLENOMEGALY N° (%) | 38 (40,86%) | 1 (2,5%) | 0.000001 |
ITCH | 36 (38,70%) | 1 (2,5 %) | 0.00000 1 |
MEDIAN WBC COUNT X109 | 9,3 (4,535,2) | 8.1 (4,2-14,3) | 0.03 |
MEDIAN HB g/dl | 17,5 (15,1-21,0) | 17,4 (16,1-19.1) | 0.9 |
MEDIAN HT % | 53,3 (48.4 - 64.3) | 52,4 (48.2 - 55.3) | 0.1 |
MEDIAN PLTS COUNT X 109 | 435.0 (270-1013) | 216 (178.339) | 0.001 |
V617 F OF JAK2 POSITIVE N. (%) | 86 (92,47) | 0 | |
JAK2 EXON 12 MUTATION N. (%) | 2 (2,15%) | 0 | |
HAPLOTYPE 46/1 OF JAK2, ETHEROZIGOUS | 42 (45,16%) | 18 (45,0%) | 0,98 |
HAPLOTYPE 46/1 OF JAK 2, HOMOZIGOUS | 25 (26,88%) | 2 (5 %) | 0.008 |
PATIENTS WITH CARDIOVASCULAR EVENTS OR THROMBOSIS N % | 32 (34,4%) | 1 (2,5%) | 0.000008 |
Conclusion
In the current study, we highlight peculiar clinical and laboratory findings of IE, in comparison with Polycythemia Vera. As shown by available studies, Hb and HCT level do not easily discriminate between the two categories of patients while gene panels may be useful to improve diagnostic accuracy of IE. We have here first observed the presence of Jak-2 46/1 haplotype in approximately half patients with IE, even in absence of JAk-2 mutations; the homozygous status was statistically different among PV and IE patients. The role of such association deserves further specific studies.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Polycythemia vera, Haplotype analysis, erythrocytosis