Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia

Vittorio Necchi, Alessandra Balduini, Patrizia Noris, Serena Barozzi, Patrizia Sommi, Christian di Buduo, Carlo L. Balduini, Enrico Solcia, Alessandro Pecci

Research output: Contribution to journalArticlepeer-review

Abstract

ANKRD26-related thrombocytopenia (ANKRD26-RT) is an autosomaldominant thrombocytopenia caused by mutations in the 5'UTR of the ANKRD26 gene. ANKRD26-RT is characterised by dysmegakaryopoiesis and an increased risk of leukaemia. PaCSs are novel particulate cytoplasmic structures with selective immunoreactivity for polyubiquitinated proteins and proteasome that have been detected in a number of solid cancers, in the epithelia of Helicobacter pylori gastritis and related preneoplastic lesions, and in the neutrophils of Schwachman-Diamond syndrome, a genetic disease with neutropenia and increased leukaemia risk. We searched for PaCSs in blood cells from 14 consecutive patients with ANKRD26-RT. Electron microscopy combined with immunogold staining for polyubiquitinated proteins, 20S and 19S proteasome showed PaCSs in most ANKRD26-RT platelets, as in a restricted minority of platelets from healthy controls and from subjects with other inherited or immune thrombocytopenias. In ANKRD26-RT platelets, the PaCS amount exceeded that of control platelets by a factor of 5 (p

Original languageEnglish
Pages (from-to)263-271
Number of pages9
JournalThrombosis and Haemostasis
Volume109
Issue number2
DOIs
Publication statusPublished - 2013

Keywords

  • ANKRD26-related thrombocytopenia
  • Dysmegakaryopoiesis
  • Inherited thrombocytopenia
  • Ubiquitin/proteasome system

ASJC Scopus subject areas

  • Hematology

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