Correlation of JAK2V617F mutational status in primary myelofibrosis with clinico-hematologic characteristics and international prognostic scoring system scoring: A single center experience.
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Date
2015-04
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Abstract
Introduction: Somatic mutation in the exon 14 of Janus Kinase 2 gene is an
established diagnostic marker in bcr-abl negative myeloproliferative neoplasms,
especially primary idiopathic myelofi brosis (PIMF). Aim: Our primary aim was
to fi nd out the correlation between the JAK2V617F mutational status and the
clinico-hematologic characteristics, as well as the international prognostic scoring
system (IPSS) scoring of patients with PIMF. Materials and Methods: Clinical
and hematologic features were reviewed for 68 patients with primary idiopathic
myelofi brosis (PIMF). JAK2V617F mutation status was analyzed by amplifi cation
refractory mutation screening-polymerase chain reaction. The patients were
further stratifi ed into low, intermediate-1, intermediate-2 and high-risk groups
on the basis of IPSS scoring. Results: The JAK2V617F mutation was detected
in 58.8% patients. Univariate analysis of variables at presentation identifi ed that
JAK2V617F negative patients were signifi cantly associated with more severe
anemia (P = 0.045), younger age (P = 0.008), higher transfusion requirement
(P = 0.017), and thrombocytopenia (P = 0.015). Patients who were homozygous
for JAK2V617F mutation were associated with thrombocytosis (P = 0.014) and
also had higher median total leucocyte count (P = 0.20) than the other groups.
No signifi cant correlation was detected between JAK2V617F mutational status
and the presence of constitutional symptoms, spleen size, grade of bone marrow
fi brosis or prognostic risk stratifi cation of the PIMF patients. Conclusion: The
variations in the prognostic implication of PIMF patients with mutation status
as stated by various publications worldwide, reinstates the need for larger
prospective studies using standardized JAK2V617F quantifi cation methods as
well as estimation of other newer molecular markers to develop deeper insight
into various molecular alterations involving PIMF patients in India as well as
worldwide.
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Keywords
Janus Kinase 2 mutation, polymerase chain reaction, primary myelofi brosis
Citation
Singh Neha, Sazawal Sudha, Upadhyay Ashish, Chhikara Sunita, Mahapatra Manoranjan, Saxena Renu. Correlation of JAK2V617F mutational status in primary myelofibrosis with clinico-hematologic characteristics and international prognostic scoring system scoring: A single center experience. Indian Journal of Pathology & Microbiology. 2015 Apr-Jun 58(2): 187-191.