Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: Report of 2 new cases

Karmaine Millington, S. David Hudnall, Jill Northup, Neli Panova, Gopalrao Velagaleti

Research output: Contribution to journalArticle

5 Scopus citations


Chromosome 1 pericentromeric heterochromatin (1q) has been shown to play an important role in the pathogenesis of non-Hodgkin lymphoma and multiple myeloma. Myelodysplastic syndrome (MDS) results from marrow failure in two or more cell lineages. Although trisomy 1q has been reported in MDS, it is usually present with additional common abnormalities such as trisomy 8, monosomy 5 or monosomy 7, leading to speculation that 1q abnormalities are mostly secondary events representing clonal evolution. We report two cases of MDS in which consistent involvement of 1q heterochromatin is seen as the primary clonal abnormality. Both patients presented with fatigue and pancytopenia. Based on the published reports and our cases, we propose that the 1q heterochromatin plays a vital role in the pathophysiology of MDS. Abnormalities involving 1q result in aberrant heterochromatin/euchromatin junctions, leading to gene dosage abnormalities. Further studies of 1q abnormalities in MDS might provide specific insights as to the exact role of the excess 1q heterochromatin in the etiology of MDS.

Original languageEnglish (US)
Pages (from-to)189-193
Number of pages5
JournalExperimental and Molecular Pathology
Issue number2
Publication statusPublished - Apr 1 2008



  • 1q heterochromatin
  • Clonal abnormalities
  • Epigenetic control
  • MDS

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Clinical Biochemistry

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