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Updated: Jun 21, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next Generation Sequencing Identifies Subgroups of Patients With Triple Negative Primary Thrombocytosis With
Valentina Sangiorgio1, Federica Mottadelli2, Fabio Pagni1
1School of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy.
Introduction:
The majority of patients with essential thrombocythemia (ET) show somatic mutations of JAK2, CALR, or MPL. Around 10% of cases lack these mutations ("triple negative" ET, TN-ET). Additionally, some patients with bona fide "primary thrombocytosis" (PT) [i.e., high platelet (PLT)- count with no apparent underlying causes] do not fulfill the histologic criteria of ET. In this context, Next Generation Sequencing (NGS) can provide evidence of clonality and identify patients with different clinical behaviors.
Methods:
We conducted a retro-prospective analysis of 39 patients with TN-PT and correlated the clinical and pathologic features with the molecular findings.
Results:
Bone marrow histopathological features were consistent with ET in 60% of cases. After a mean follow up of 11.1 years, no cases of secondary myelofibrosis nor acute leukemia were observed. We reported 15 thrombotic events (TEs) in 10 (25.6%) patients. Considering mutations with a variant frequency ≥ 5%, 15.4% of patients showed at least one mutation ("NGS-positive"); the remaining had no mutations ("NGS-negative"). NGS status predicted the incidence of TEs: NGS-positive patients experienced a significantly higher rate of TEs compared to NGS-negative patients (66.6% vs. 18.2%, respectively; p = 0.01).
Conclusion:
NGS status represents an adjunctive risk factor for thrombosis in TN-PT and provides useful clinical information.
