Gain of 9p in the pathogenesis of polycythemia vera

Zhong Chen, Mathilda Notohamiprodjo, Xin Yuan Guan, Elisabeth Paietta, Sheryn Blackwell, Karen Stout, Angle Turner, Kathy Richkind, Jeffrey M. Trent, Allen Lamb, Avery A. Sandberg

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Polycythemia vera (PV) is a clonal stem cell disorder characterized by excessive erythrocyte production, resulting in absolute erythrocytosis. No specific structural chromosomal abnormalities have been reported in PV to date. We have observed two cases of PV with an extra i(9)(p10) as the sole anomaly, and FISH analysis using a 9p-specific chromosome microdissection probe showed that two other PV patients previously identified as having an add(18p) and an add(lp) as the primary changes actually carried a der(18)t(9;18)(p12;p11.2) and a der(1)t(1;9)(p12;p12), respectively. The same FISH assay was employed to evaluate domain signals on interphase cells of 15 more cases of PV with normal karyotypes and five normal controls. Two patients were observed with a significant increase in the percentage of cells with three domain signals. Our results strongly indicate that an additional i(9)(p10) is a new and recurrent primary chromosome anomaly in PV, and, in consideration of trisomy 9 being one of the most common anomalies in PV, amplification of a gene or genes on 9p, but not on 9q, may play a crucial role in the pathogenesis of PV.

Original languageEnglish (US)
Pages (from-to)321-324
Number of pages4
JournalGenes Chromosomes and Cancer
Issue number4
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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