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Blood, 15 May 2006, Vol. 107, No. 10, pp. 4139-4141.
Prepublished online as a Blood First Edition Paper on January 24, 2006; DOI 10.1182/blood-2005-09-3900.
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NEOPLASIA
Brief report
X-inactivation–based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis
Ross L. Levine,
Claude Belisle,
Martha Wadleigh,
David Zahrieh,
Stephanie Lee,
Pierre Chagnon,
D. Gary Gilliland, and
Lambert Busque
From the Brigham and Women's Hospital, Harvard Medical School, Boston, MA; Maisonneuve-Rosemont Hospital, University of Montreal, Canada; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA; and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA.
The JAK2V617F mutation is present in most patients with polycythemia vera (PV) and in some patients with essential thrombocythemia (ET) and myeloid metaplasia/myelofibrosis (MMM). We sought to investigate the relationship between granulocyte clonality and JAK2V617F allelic ratio. A total of 168 of 190 female patients were informative for a clonality assay at the HUMARA locus; 80% of MMM, 75% of PV, and 67% of ET patients demonstrated clonal granulopoiesis. The JAK2V617F allele was detected by quantitative real-time polymerase chain reaction (PCR) in 99% of PV, 72% of ET, and 39% of MMM. A correlation between clonality and JAK2V617F allelic ratio was demonstrated for PV (P < .001) but not for ET or MMM (both P > .6). These data suggest that acquisition of the JAK2V617F mutation may be sufficient for the development of PV, but additional genetic events are necessary in ET and MMM. In addition, some ET and MMM patients with clonal granulopoiesis have somatic mutations other than JAK2V617F.
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