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Cardiac JAK2 Mutation V617F in a Patient with Cardiomyopathy and Myeloproliferative Disease

Stefan Gattenlohner, MD; Georg Ertl, MD; Hermann Einsele, MD; Stefan Kircher, MD; Hans-Konrad Muller-Hermelink, MD; and Alexander Marx, MD
[+] Article, Author, and Disclosure Information

From the University of Wuerzburg, Wuerzburg 97080, Germany.

Potential Financial Conflicts of Interest: None disclosed.

Ann Intern Med. 2008;149(1):69-71. doi:10.7326/0003-4819-149-1-200807010-00027
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Figure 1.
Detection ofJAK2mutV617F in hypertrophic heart and bone marrow but not in hematopoiesis-free organs.

The JAK2 mutation V617F (arrowheads) is found in the patient's hypertrophic heart (a, b) and PMF-affected bone marrow (c, positive control), but wild-type JAK2 (arrow) is found in her capillary-rich thyroid (d, negative control). Laser microdissection for removal of interstitial tissue (b) had no effect on JAK2 mutational status, indicating the cardiomyocytic origin of the JAK2 mutation V617F in the heart. (Hematoxylin–eosin staining, × 200.)

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Grahic Jump Location
Figure 2.
JAK2mutV617F-induced phosphorylation of STAT3.

Detection of phosphoSTAT3 (pSTAT3) in the patient's JAK2mutV617F-positive right and left cardiac ventricle (RVJAK2-V617F, LVJAK2-V617F) by Western blot (a) and immunohistochemistry (b and c, nuclear staining, left ventricle). Absence of pSTAT3 in JAK2 wild-type control hearts (n = 14) (a, RVJAK2-wt, LVJAK2-wt; c, LVJAK2-wt). GAPDH is the protein loading control. Murine HL-1 cardiomyocytes transfected with JAK2mutV617F showed increased nuclear pSTAT3 expression (d, HL-1 JAK2mutV617F red fluorescence), whereas HL-1 cardiomyocytes transfected with JAK2 wild type remained largely pSTAT3 negative (e, HL-1 JAK2wt red fluorescence). Transfection with green fluorescence protein served as control for transfection efficiency (about 30%) (Alexa 488 and Cy3, × 400.)

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