Surbhi Singh: Incidental Thrombocytopenia May Sometimes Be the First Clue to an Underlying Hematological Malignancy
Surbhi Singh, Consultant Haematopathology at Agilus Diagnostics and Fortis Hospital Gurugram, shared a post on LinkedIn:
“Incidental thrombocytopenia may sometimes be the first clue to an underlying hematological malignancy, highlighting the importance of not overlooking seemingly minor hematological abnormalities.
A 74 year old male presented with incidental finding of thrombocytopenia and monocytosis on CBC (Fig. 1).
PS revealed AMC 2560/uL and platelet count of 60k/uL. Bone marrow aspirate revealed myeloid preponderance with increase in monocytes and no increase in blasts, few dyspoeitic megakaryocytes (~12%) Fig.2, s/o CMML .
Flowcytometry on PB showed 35% monocytes out of which 98.2% classical monocytes (CD14+ CD16-) Fig. 3
and flow on BMA showed 1.2% blast/promonocytes, favouring CMML- 1.
NGS revealed SRSF2 (VAF 51%), KRAS (VAF 22%), TET2 (VAF 83%), PHF6 (VAF 06%)
Final diagnosis – CMML- 1
SRSF2 – most common recurrent mutation in CMML (40-50%), founder driver mutation.
KRAS- 30-40% cases of CMML, worse prognosis and higher risk of transformation to AML
TET2- most frequent mutation in CMML (50-60%), high VAF suggests clonal founder mutation, co-mutation with KRAS worsens prognosis.
PHF6- uncommon in CMML (~2-5%).”
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