Abstract
Background and Aims: Chronic myeloproliferative diseases (MPDs) are heterogenous group of haematological malignant disorders. It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. The presence of JAK2 (V617F) mutation is considered an important criterion for the exclusion of secondary/reactive from clonal disorders. In the present uni-institutional study, we analyzed the JAK2 (V617F) mutation status in the ethnic Malay and Chinese patients who were diagnosed as MPDs. Materials and Methods: The study was performed on known cases of chronic MPDs either at diagnosis or during the follow-up. A total of 45 cases were studied with informed consent. The allele specific PCR, ARMS-PCR and RQ-PCR methods were used. Results: The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being most frequent in PV (95.8%) and 39% showed homozygous mutant allele. The mutation was detected in 52.9% cases of ET, of which 36.4% were homozygous for the mutant allele and 1 case of MF was homozygous for the mutant allele.. Conclusion: Screening for the mutation in all cases suspected of chronic MPD could be beneficial in differentiating patients with reactive erthrocytosis or thrombocytosis from the true clonal MPDs especially polycythaemia vera.
| Original language | English |
|---|---|
| Pages (from-to) | 109-113 |
| Number of pages | 5 |
| Journal | Clinica Terapeutica |
| Volume | 163 |
| Issue number | 2 |
| Publication status | Published - 2012 |
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Keywords
- Chronic myeloproliferative disease
- JAK2 (V617F) mutation
- Polycythaemia vera
- Polymerase chain reaction
- Thrombocythaemia
ASJC Scopus subject areas
- Medicine(all)
Cite this
A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferative disorders. / Hussin, Noor Hamidah; Farisah, N. R.; Azlinda, A. B.; Wong, F. L.; Das, Srijit; Fadillah, S. A W; Ainoon, O.
In: Clinica Terapeutica, Vol. 163, No. 2, 2012, p. 109-113.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A study of JAK2 (V617F) gene mutation in patients with chronic myeloproliferative disorders
AU - Hussin, Noor Hamidah
AU - Farisah, N. R.
AU - Azlinda, A. B.
AU - Wong, F. L.
AU - Das, Srijit
AU - Fadillah, S. A W
AU - Ainoon, O.
PY - 2012
Y1 - 2012
N2 - Background and Aims: Chronic myeloproliferative diseases (MPDs) are heterogenous group of haematological malignant disorders. It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. The presence of JAK2 (V617F) mutation is considered an important criterion for the exclusion of secondary/reactive from clonal disorders. In the present uni-institutional study, we analyzed the JAK2 (V617F) mutation status in the ethnic Malay and Chinese patients who were diagnosed as MPDs. Materials and Methods: The study was performed on known cases of chronic MPDs either at diagnosis or during the follow-up. A total of 45 cases were studied with informed consent. The allele specific PCR, ARMS-PCR and RQ-PCR methods were used. Results: The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being most frequent in PV (95.8%) and 39% showed homozygous mutant allele. The mutation was detected in 52.9% cases of ET, of which 36.4% were homozygous for the mutant allele and 1 case of MF was homozygous for the mutant allele.. Conclusion: Screening for the mutation in all cases suspected of chronic MPD could be beneficial in differentiating patients with reactive erthrocytosis or thrombocytosis from the true clonal MPDs especially polycythaemia vera.
AB - Background and Aims: Chronic myeloproliferative diseases (MPDs) are heterogenous group of haematological malignant disorders. It is now a well recognized fact that the JAK2 (V617F) mutation occurs in majority of the patients with polycythaemia vera (PV) and half of those with myelofibrosis and essential thrombocythaemia. The presence of JAK2 (V617F) mutation is considered an important criterion for the exclusion of secondary/reactive from clonal disorders. In the present uni-institutional study, we analyzed the JAK2 (V617F) mutation status in the ethnic Malay and Chinese patients who were diagnosed as MPDs. Materials and Methods: The study was performed on known cases of chronic MPDs either at diagnosis or during the follow-up. A total of 45 cases were studied with informed consent. The allele specific PCR, ARMS-PCR and RQ-PCR methods were used. Results: The frequency of the JAK2 (V617F) mutation varied between the MPD subtypes, with the mutation being most frequent in PV (95.8%) and 39% showed homozygous mutant allele. The mutation was detected in 52.9% cases of ET, of which 36.4% were homozygous for the mutant allele and 1 case of MF was homozygous for the mutant allele.. Conclusion: Screening for the mutation in all cases suspected of chronic MPD could be beneficial in differentiating patients with reactive erthrocytosis or thrombocytosis from the true clonal MPDs especially polycythaemia vera.
KW - Chronic myeloproliferative disease
KW - JAK2 (V617F) mutation
KW - Polycythaemia vera
KW - Polymerase chain reaction
KW - Thrombocythaemia
UR - http://www.scopus.com/inward/record.url?scp=84863993306&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84863993306&partnerID=8YFLogxK
M3 - Article
C2 - 22555824
AN - SCOPUS:84863993306
VL - 163
SP - 109
EP - 113
JO - Clinica Terapeutica
JF - Clinica Terapeutica
SN - 0009-9074
IS - 2
ER -