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JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13

JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13
JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13
In July, 2000, a 50-year-old man presented with leukocytosis and splenomegaly (21 cm). Leucocyte concentration was 93×109/L, haemoglobin 150 g/L, and platelets 345×109/L (figure 1). A differential blood count showed 54% neutrophils, 2% lymphocytes, 13% myelocytes, 7% metamyelocytes, 2% promyelocytes, 1% blasts, and 7% basophils. Lactate dehydrogenase (LDH) concentration was increased at 484 U/L. 17 months previously, the blood count had been in the normal range. Bone-marrow aspiration was dry and bone-marrow biopsy showed marked myeloid hyperplasia, increased megakaryopoiesis, and the beginning of fibrosis. Cytogenetic analysis revealed a chromosome translocation (t[9;22][q34;q11]) in all ten metaphases examined. Expression of B3A2 BCR-ABL mRNA was detected by reverse transcriptase polymerase chain reaction (RT-PCR) in peripheral-blood leucocytes.
protein, genes, Germany, piperazines, chronic disease, agents, chromosome aberrations, polymerase chain reaction, antineoplastic agents, report, drug therapy, therapeutic use, bcr-abl positive, chronic, male, leukemia, research support, dna mutational analysis, human, research, mutation, humans, janus kinase 2, pyrimidines, genetics, middle aged, abl, myelogenous
1470-2045
658-660
Kramer, Alwin
84c64373-3bb9-4b0b-b90c-20638b665a21
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Kruth, Jens
37bba827-2e2a-4cbe-b989-68e469b93bec
Erben, Philipp
defa0bda-e318-499b-9f62-36288a8407ae
Hochhaus, Andreas
b37b9b7d-85ff-455e-994d-fcc2adf94088
Muller, Martin
cee727f2-8f1b-40f4-9973-2b23a2b03655
Cross, Nicholas C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Jones, Amy V.
3d296088-a099-45cf-b227-541ff59d800c
Ho, Anthony D.
384cc2ca-011e-46bc-bc3b-a313ed226852
Hensel, Manfred
31784397-1c27-44e2-bd79-6095f126517e
Kramer, Alwin
84c64373-3bb9-4b0b-b90c-20638b665a21
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Kruth, Jens
37bba827-2e2a-4cbe-b989-68e469b93bec
Erben, Philipp
defa0bda-e318-499b-9f62-36288a8407ae
Hochhaus, Andreas
b37b9b7d-85ff-455e-994d-fcc2adf94088
Muller, Martin
cee727f2-8f1b-40f4-9973-2b23a2b03655
Cross, Nicholas C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Jones, Amy V.
3d296088-a099-45cf-b227-541ff59d800c
Ho, Anthony D.
384cc2ca-011e-46bc-bc3b-a313ed226852
Hensel, Manfred
31784397-1c27-44e2-bd79-6095f126517e

Kramer, Alwin, Reiter, Andreas, Kruth, Jens, Erben, Philipp, Hochhaus, Andreas, Muller, Martin, Cross, Nicholas C., Jones, Amy V., Ho, Anthony D. and Hensel, Manfred (2007) JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia13. The Lancet Oncology, 8 (7), 658-660. (doi:10.1016/S1470-2045(07)70206-1).

Record type: Article

Abstract

In July, 2000, a 50-year-old man presented with leukocytosis and splenomegaly (21 cm). Leucocyte concentration was 93×109/L, haemoglobin 150 g/L, and platelets 345×109/L (figure 1). A differential blood count showed 54% neutrophils, 2% lymphocytes, 13% myelocytes, 7% metamyelocytes, 2% promyelocytes, 1% blasts, and 7% basophils. Lactate dehydrogenase (LDH) concentration was increased at 484 U/L. 17 months previously, the blood count had been in the normal range. Bone-marrow aspiration was dry and bone-marrow biopsy showed marked myeloid hyperplasia, increased megakaryopoiesis, and the beginning of fibrosis. Cytogenetic analysis revealed a chromosome translocation (t[9;22][q34;q11]) in all ten metaphases examined. Expression of B3A2 BCR-ABL mRNA was detected by reverse transcriptase polymerase chain reaction (RT-PCR) in peripheral-blood leucocytes.

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More information

Published date: 2007
Keywords: protein, genes, Germany, piperazines, chronic disease, agents, chromosome aberrations, polymerase chain reaction, antineoplastic agents, report, drug therapy, therapeutic use, bcr-abl positive, chronic, male, leukemia, research support, dna mutational analysis, human, research, mutation, humans, janus kinase 2, pyrimidines, genetics, middle aged, abl, myelogenous

Identifiers

Local EPrints ID: 59947
URI: http://eprints.soton.ac.uk/id/eprint/59947
ISSN: 1470-2045
PURE UUID: 7badf013-0c93-42e3-b4b9-20ece667c654
ORCID for Nicholas C. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 05 Sep 2008
Last modified: 16 Mar 2024 03:23

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Contributors

Author: Alwin Kramer
Author: Andreas Reiter
Author: Jens Kruth
Author: Philipp Erben
Author: Andreas Hochhaus
Author: Martin Muller
Author: Amy V. Jones
Author: Anthony D. Ho
Author: Manfred Hensel

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