Next Generation Sequencing Identifies Subgroups of Patients With Triple Negative Primary Thrombocytosis With Different Clinical Thrombotic Outcomes.

ABSTRACT:

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 mea

SUBMITTER: Sangiorgio V 

PROVIDER: S-EPMC12426806 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature