Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.
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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. / Schnittger, Susanne; Bacher, Ulrike; Haferlach, Claudia; Geer, Thomas; Müller, Peter; Mittermüller, Johann; Petrides, Petro; Schlag, Rudolf; Sandner, Reiner; Selbach, Johannes; Slawik, Hans Rainer; Tessen, Hans Werner; Wehmeyer, Jürgen; Kern, Wolfgang; Haferlach, Torsten.
in: HAEMATOLOGICA, Jahrgang 94, Nr. 3, 3, 2009, S. 414-418.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.
AU - Schnittger, Susanne
AU - Bacher, Ulrike
AU - Haferlach, Claudia
AU - Geer, Thomas
AU - Müller, Peter
AU - Mittermüller, Johann
AU - Petrides, Petro
AU - Schlag, Rudolf
AU - Sandner, Reiner
AU - Selbach, Johannes
AU - Slawik, Hans Rainer
AU - Tessen, Hans Werner
AU - Wehmeyer, Jürgen
AU - Kern, Wolfgang
AU - Haferlach, Torsten
PY - 2009
Y1 - 2009
N2 - To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p
AB - To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases we found evidence for the presence of cells homozygous for mutated JAK2exon12. As this was the case in only 2/15 cases with JAK2exon12 mutations (13%) homozygosity seemed to be less frequent than in V617F-mutated polycythemia vera (69%) (p
U2 - 10.3324/haematol.13223
DO - 10.3324/haematol.13223
M3 - SCORING: Zeitschriftenaufsatz
VL - 94
SP - 414
EP - 418
JO - HAEMATOLOGICA
JF - HAEMATOLOGICA
SN - 0390-6078
IS - 3
M1 - 3
ER -