Clinical correlates of JAK2 V617F point mutation in patients with chronic phase of myelofibrosis
Journal Title: Postępy Nauk Medycznych - Year 2011, Vol 24, Issue 7
Abstract
Introduction. Point mutation JAK2V617F occurs in 50-60% of patients with myelofibrosis (MF). Its clinical role is unclear and requires further studies.Material and methods. Seventy seven patients were included in the study, 41F/36M, at median age of 61 (range 19-81).Forty two patients were diagnosed with primary myelofibrosis (PMF), 16 with post-polycythemia vera myelofibrosis (post-PV MF)and 19 with post-essential thromocythemia myelofibrosis (post-ET MF). The JAK2V617F mutation was detected using allelic discrimination semi-quantitative real time polymerase chain reaction (test MutaScreenTM) from DNA of granulocytes from peripheral blood.Results. A total of 55% studied patients were JAK2-positive. The mutation was present in 50.88 and 37% of patients with PMF, post-PV MF and post-ET MF, respectively. JAK2 homozygosity was found in 57% of patients and heterozygosity in 43%. The median allele burden was 22 (range 2-96). JAK2 homozygosity was found to be seen more frequently in females, with higher white blood cell count and with tendency for higher hemoglobin concentration. There was no difference in overall survival between JAK2-positive and JAK2-negative patients as well as between homozygotes and heterozygotes.Conclusions. The presence of JAK2 mutation was demonstrated in 50-60% of patients with MF. It occurs more frequently in patients with post-PV MF. The correlation between JAK2 mutation status and overall survival was not found.
Authors and Affiliations
Agata Wieczorkiewicz-Kabut, Grzegorz Helbig, Krzysztof Woźniczka, Małgorzata Sobczyk-Kruszelnicka, Sławomira Kyrcz-Krzemień
Keywords
Related Articles
- EP ID EP54220
- DOI -
- Views 146
- Downloads 0
Clinical correlates of JAK2 V617F point mutation in patients with chronic phase of myelofibrosis
Introduction. Point mutation JAK2V617F occurs in 50-60% of patients with myelofibrosis (MF). Its clinical role is unclear and requires further studies.Material and methods. Seventy seven patients were included in the stu...
Diagnosis and treatment of non-Hodgkin lymphomas
Non-Hodgkin lymphomas are a group of malignancies characterized by a clonal expansion of lymphoid cells of B, T and natural killer cell lineages on various stages of their differentiation. Since lymphoid cells are morpho...
Zastosowanie biopsji cienkoigłowej w diagnostyce guzków tarczycy
Wstęp. Biopsja cienkoigłowa (FNA) jest inwazyjną, jednak stosunkowo prostą i niedrogą procedurą medyczną łatwo wykonywaną w warunkach przychodni bez konieczności hospitalizacji pacjenta. Ma zastosowanie głównie w diagnoz...
Fetal neck tumor – differentiation from thyroid goiter
Fetal anterior neck tumor is a rare condition and differential diagnosis includes goiter, teratoma, thyroglossal duct cyst, cystic hygroma, branchial cleft cyst, lymphangioma/hemangioma and neuroblastoma. The case of fet...
Czy przewlekła choroba nerek wpływa na występowanie chorób układu sercowo-naczyniowego i zgony z ich powodu u osób w wieku podeszłym?
Przewlekła choroba nerek (PChN) dotyczy znacznego odsetka pacjentów w wieku podeszłym, a ryzyko jej rozwoju rośnie wraz z wiekiem. Obniżona wartość współczynnika przesączania kłębuszkowego jest istotnym czynnikiem ryzyka...