Molecular analysis of Philadelphia-negative myeloproliferative syndromes with i(17q)

Cristina Mareni, Mario Sessarego, Paola Origone, Raffaella Defferrari, Francesco Frassoni, Franco Ajmar

Research output: Contribution to journalArticlepeer-review


We report two cases of myeloproliferative syndromes in which the only karyotypic abnormality was an isochromosome of the long arm of chromosome 17. Because i(17q) is a nonrandom structural aberration found in nearly 12% of cases of Philadelphia (Ph)-positive chronic myelogenous leukemia (CML), we carried out a molecular analysis of the breakpoint cluster region (bcr) to verify the presence of genomic rearrangements characteristic of CML. The interest of the study was strengthened by the fact that i(17q) is frequently seen in CML and by recent reports showing that genomic changes of c-abl and bcr genes can be present even in the absence of a Ph chromosome. One of the two patients showed the presence of a rearranged fragment within the bcr, suggesting a Ph-positive CML diagnosis.

Original languageEnglish
Pages (from-to)195-201
Number of pages7
JournalCancer Genetics and Cytogenetics
Issue number2
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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