HSANZ Posters presented at the HSANZ/ANZSBT/ASTH Annual Scientific Meeting held in Hobart, Tasmania, Australia, 15-18 October 2006 P62 Relationship between JAK2 V617F mutation status and Mpl protein expression in myeloproliferative disease

نویسندگان

  • Sulayma Al-Lamki
  • Marie-Christine Morel-Kopp
  • John Kwan
  • Christopher Ward
  • William Stevenson
  • Ai Leen Ang
  • Cheng Lim
  • Hoon Seng Khoo Tan
  • Hock Foong Lui
  • Wai Keong Wong
چکیده

Results Control subjects with a normal haematological profiles were all JAK2 V617F negative and expressed a variable amount of platelet Mpl protein (mean 80%±17, n=20). Patients with a myeloproliferative disease were variably positive for the mutation with JAK2 V617F detected in 73% of PV and 63% of ET patients. In these myeloproliferative patients, Mpl was reduced compared to the control group (PV 46%±34, p<0.01 and ET 38%±30, p<0.01), and within each diagnostic classification the JAK2 V617F positive cohort had reduced Mpl expression compared to the patients with JAK2 V617F negative myeloproliferative disease (JAK2 V617F positive PV 35%±28, n=20 compared to JAK2 V617F negative PV 86%±18, n=6 and JAK2 V617F positive ET 31%±21, n=21 compared to JAK2 V617F negative ET 50%±39, n=12).

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Prevalence of MPL (W515K/L) Mutations in Patients with Negative-JAK2 (V617F) Myeloproliferative Neoplasm in North-East of Iran

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

متن کامل

Differences in the JAK2 and MPL mutation status in the cell lineages of the bcr/abl-negative chronic myeloproliferative neoplasm subtypes.

OBJECTIVE While the somatic mutation of Janus Kinase 2 (JAK2) and the thrombopoietin receptor (c-MPL) gene are thought to affect the pathogenesis of bcr/abl negative chronic myeloproliferative neoplasm (MPN), the relationship between the mutation and the clinical features remain obscure. METHODS The mutation status of these genes in granulocytes, platelets, T-cells, and erythroid colonies (BF...

متن کامل

ارزیابی جهش JAK2V617F در نئوپلاسم های  میلوپرولیفراتیو کلاسیک غیر CML به روش ARMS-PCR

Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...

متن کامل

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

The 46/1 JAK2 haplotype predisposes to V617F-positive myeloproliferative neoplasms, but the underlying mechanism is obscure. We analyzed essential thrombocythemia patients entered into the PT-1 studies and, as expected, found that 46/1 was overrepresented in V617F-positive cases (n = 404) versus controls (n = 1492, P = 3.9 x 10(-11)). The 46/1 haplotype was also overrepresented in cases without...

متن کامل

Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR

Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2007