TABLE I.

FREQUENCY OF MOLECULAR MUTATIONS AND CORRELATION WITH DISEASE PHENOTYPES IN MYELOFIBROSIS

Gene Symbol	Frequency (%)	Associated Disease-Phenotype/ Impact on Survival Outcomes	Studies
JAK2	40-59	Higher Hgb Leukocytosis BM Fibrosis	James et al, 2005 Levine et al, 2005 Baxter et al, 2005 Kralovics et al, 2005
MPL	5-10	Thrombocytosis Lower Hgb	Beer et al, 2008 Boyd et al, 2010 Chaligne et al, 2008
TET2	15-20	Anemia	Vannucchi et al, 2013 Brecqueville et al, 2012 Delhommeau et al, 2009
LNK	<5	BM Fibrosis	Ha et al, 2011 St et al , 2010 Pardanani et al, 2010
DNMT3A	5-12	Poor Prognosis	Vannucchi et al, 2013 Stegelmann et al, 2011 Abdel-Wahab et al, 2011
IDH1/2	<5	Poor prognosis	Vannucchi et al, 2013 Brecqueville et al, 2012 Tefferi et al, 2010
ASXL1	17-25	BM Fibrosis/ Poor Prognosis	Brecqueville et al, 2012 Ricci et al, 2012 Stein et al, 2011
CBL	<5	BM Fibrosis	Schnittger et al, 2012 Brecqueville et al, 2012 Vainchenker et al, 2011
EZH2	5-8	Poor prognosis	Score et al, 2012 Guglielmelli et al, 2011 Ernst et al, 2010
SF3B1	2-7	Ring sideroblast/ Good prognosis	Visconte et al, 2012
U2AF1	5-9	Poor prognosis	Lasho et al, 2012
SRSF2	15-25	Anemia/ Poor prognosis	Lehmann et al, 2013 Vannucchi et al, 2013 Lasho et al, 2012
ZRSR2	<5§; 1.9†	Unknown	Thol et al, 2012 Yoshida et al, 2011

Table Legend: Summary of the frequencies, disease-phenotypes, and impact on survival outcomes of molecular mutations in Myelofibrosis.

^§the frequency refers to Myelodysplastic syndromes.

^†this frequency refers to a study conducted with whole exome sequencing

Abbreviations. Hgb, hemoglobin; BM, bone marrow.