Abstract
Essential thrombocythemia is one of the famous diseases under the category of
myeloproliferative disorder. It is an end result of a genetic mutation of one or more of
the most frequent oncogenes such as Janos kinase 2 (JAK2), MPL proto-oncogene,
thrombopoietin receptor (MPL), and calreticulin (CALR). However, negative genetic markers,
so-called (triple negative disease), can happen in the presence of other uncommon types of
mutation. TET2 (ten-eleven translocation 2) positive as isolated genetic marker in triple
negative essential thrombocythemia is uncommon genetic presentation. For that, we are
reporting a 22-year-old lady who presented with a feature of dyspepsia and accidentally
found to have persistently high platelet count, even after treating her mild iron
deficiency anemia with no other secondary causes. Further investigations and bone marrow
biopsy supported the diagnosis of isolated TET2 positive in triple negative essential
thrombocythemia. We treated her conservatively with good hydration and low dose of
aspirin. In conclusion, isolated TET2 positive in triple negative essential
thrombocythemia at presentation is uncommon with no clear management or risk
stratification guideline. However, it is hypothesized that
TET2
mutation
precedes
JAK2
; therefore, the detection of isolated TET2 in a triple
negative essential thrombocythemia case should be closely followed for clonal evolution in
long term. Further study and guidelines required in this area.