Multiple constitutional chromosome translocations of familial nature in Philadelphia chromosome-positive chronic myeloid leukemia: A report on a unique case

Béla Kajtár, Linda Deák, Veronika Kalász, László Pajor, Lenke Molnár, Gábor Méhes

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

A case of Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML) featuring 2 additional balanced translocations, t(2;5) and t(6;12), as well as a robertsonian translocation, t(13;14), was diagnosed by routine bone marrow karyotyping. The breakpoints did not involve previously described CML-related chromosomal regions in any of the 3 translocations. Despite the patient's partial response following imatinib therapy, all Ph - bone marrow metaphases persistently had the 3 additional chromosomal changes. Moreover, stimulated peripheral B-lymphocytes from the patient also showed the same chromosomal changes, suggesting that we had found a complex constitutional chromosome aberration unrelated to the leukemia. Peripheral blood karyotype analyses of 6 of the 7 closest relatives from 3 generations demonstrated at least 1 of these aberrations, although in different combinations. Standard bone marrow or peripheral blood karyotyping of hematologic disorders may uncover otherwise symptomless, unrelated constitutional changes together with disease-specific chromosome aberrations. A triple constitutional chromosome aberration combined with a hematologic disorder has not been described until now. In addition, multiple constitutional aberrations persisting through at least 3 generations seem to be extremely rare. At present, no direct evidence exists to support a causative relationship between the familial translocations and leukemogenesis.

Original languageEnglish
Pages (from-to)347-350
Number of pages4
JournalInternational Journal of Hematology
Volume82
Issue number4
DOIs
Publication statusPublished - Nov 1 2005

Keywords

  • CML
  • Chromosome
  • Constitutional aberration
  • Familial

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Multiple constitutional chromosome translocations of familial nature in Philadelphia chromosome-positive chronic myeloid leukemia: A report on a unique case'. Together they form a unique fingerprint.

  • Cite this