Acquired Robertsonian translocations are not rare events in acute leukemia and lymphoma

Research output: Contribution to journalArticle

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Abstract

Robertsonian translocations are the most common constitutional structural abnormalities but are rarely reported as acquired aberrations in hematologic malignancies. The nonhomologous acrocentric rearrangements are designated as Robertsonian translocations, whereas the homologous acrocentric rearrangements are referred to as isochromosomes. Robertsonian rearrangements have the highest mutation rates of structural chromosome rearrangements based on surveys of newborns and spontaneous abortions. It would be expected that Robertsonian recombinations would be more common than suggested by the literature. A survey of the cytogenetics database from a single institution found 17 patients with acquired Robertsonian rearrangement and hematologic malignancies. This is combined with data from the literature for a total of 237 patients. All of the possible types of Robertsonian rearrangements have been reported in hematologic malignancies, with the i(13q), i(14q), and i(21q) accounting for nearly 60%. Complex karyotypic changes are seen in the majority of cases, corresponding with disease evolution. These karyotypes consistently show loss of chromosomes 5 and/or 7 in the myelocytic disorders, nonacrocentric isochromosomes, and centromeric breakage and reunion. However, nearly 25% of the acquired rearrangements were found as the sole abnormality or in addition to an established cytogenetic aberration. Most of these were the i(14q) with the myelodysplasia subtypes refractory anemia and chronic myelomonocytic leukemia.

Original languageEnglish (US)
Pages (from-to)14-35
Number of pages22
JournalCancer Genetics and Cytogenetics
Volume151
Issue number1
DOIs
StatePublished - May 2004

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Hematologic Neoplasms
Isochromosomes
Lymphoma
Leukemia
Reunion
Leukemia, Myelomonocytic, Chronic
Refractory Anemia
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 7
Spontaneous Abortion
Mutation Rate
Karyotype
Cytogenetics
Chromosome Aberrations
Genetic Recombination
Chromosomes
Newborn Infant
Databases
Surveys and Questionnaires

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Acquired Robertsonian translocations are not rare events in acute leukemia and lymphoma. / Welborn, Jeanna L.

In: Cancer Genetics and Cytogenetics, Vol. 151, No. 1, 05.2004, p. 14-35.

Research output: Contribution to journalArticle

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