Gray Platelet Syndrome Presenting with Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis

Hamza Tariq, Juliana Perez Botero, Russell A. Higgins, Edward A. Medina

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: Gray platelet syndrome (GPS) is a rare platelet storage pool disorder associated with a marked decrease or absence of platelet α-granules and their contents. It is characterized clinically by mild to moderate bleeding; moderate macrothrombocytopenia with large, agranular platelets; splenomegaly; and bone marrow fibrosis. Electron microscopy confirms markedly reduced or absent α-granules in platelets and megakaryocytes. The classic description of GPS is caused by homozygous mutations in NBEAL2 (neurobeachinlike 2). Methods: A 28-year-old Hispanic man with a history of easy bruising and occasional episodes of epistaxis sought treatment for pancytopenia and splenomegaly. Peripheral blood smear and bone marrow analysis, electron microscopy, and next-generation sequencing were performed. Results: Large and agranular platelets were present in the peripheral blood. There was bone marrow fibrosis. Electron microscopy of the platelets showed absence of α-granules. Next-generation sequencing revealed a germline apparently homozygous nonsense variant in the NBEAL2 gene: c.5674C>T, p.Gln1892X (p.Q1829X). Conclusions: The differential diagnosis of GPS includes a myeloid neoplasm such as myelodysplastic syndrome with bone marrow fibrosis. The availability of diagnostic genetic panels for hereditable platelet disorders can assist in the recognition of GPS and other platelet disorders. We also describe a previously unreported pathogenic germline homozygous nonsense variant in the NBEAL2 gene: c.5674C>T, p.Gln1892X (p.Q1829X) in a patient with GPS.

Original languageEnglish (US)
Pages (from-to)253-258
Number of pages6
JournalAmerican journal of clinical pathology
Volume156
Issue number2
DOIs
StatePublished - Aug 1 2021

Keywords

  • Bleeding diathesis
  • Granule deficiency
  • Myelofibrosis
  • NBEAL2
  • Platelet storage pool deficiency
  • Thrombocytopenia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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