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Clinical significance of clonality assessment in JAK2V617F-negative essential thrombocythemia
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Clinical significance of clonality assessment in JAK2V617F-negative essential thrombocythemia
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Journal Article
Clinical significance of clonality assessment in JAK2V617F-negative essential thrombocythemia
2012
Overview
JAK2
V617F-negative essential thrombocythemia (ET) is a heterogeneous disease including clonal cases and others without evidence of clonality. However, it is unknown if the detection of myeloid clonality in JAK2V617F-negative ET patients confers a different clinical outcome than those in whom clonal hematopoiesis cannot be demonstrated. The objective of the present study was to evaluate the clinical significance of clonality assessment in patients with JAK2V617F-negative ET. Clonality investigation including mutational status of
MPL
,
TET2
, and
ASXL1
genes and human androgen receptor (
HUMARA
) assay was performed in 73 JAK2V617F-negative cases out of 186 subjects consecutively diagnosed with ET in a single institution, at diagnosis or during follow-up. Mutations in
MPL
,
TET2
, and
ASXL1
were observed in 7, 4, and 2 cases, respectively, whereas clonality by
HUMARA
assay was demonstrated in 21 out of 46 (46 %) female patients. With a median follow-up of 8 years, death, thrombosis, bleeding, and disease transformation were registered in 7, 10, 8, and 6 patients, respectively. No differences in thrombosis, bleeding or survival were observed according to clonality assessment. The probability of disease transformation at 10 years was higher in patients showing clonal hematopoiesis by presenting mutations in either
MPL
,
TET2
, or
ASXL1
(64 versus 2 % in patients without mutations,
p
< 0.001) and in those with
HUMARA
clonality (35 versus 0 % in patients with polyclonal hematopoiesis,
p
< 0.004). In conclusion, disease transformation is associated with evidence of clonality in JAK2V617F-negative ET.
Publisher
Springer-Verlag,Springer Nature B.V
Subject
