Chromosomal aberration of the 11q23 locus in acute leukemia and frequency of MLL gene translocation: Results in 378 adult patients

M. Christina Cox, Paola Panetta, Francesco Lo-Coco, Giovanni Del Poeta, Adriano Venditti, Luca Maurillo, M. Ilaria Del Principe, Alessandro Mauriello, Lucia Anemona, Antonio Bruno, Carla Mazzone, Paolo Palombo, Sergio Amadori

Research output: Contribution to journalArticlepeer-review


Structural abnormality of the 11q23 band (11q23+) bearing the MLL gene translocation (MLL+) is a recurrent chromosome change observed in 3% to 7% of acute lymphoblastic leukemias and in 3% to 4% of acute myeloblastic leukemias. The resolution of conventional cytogenetics (CC) in detecting 11q23 rearrangement is limited when the translocative partner has a telomeric location; furthermore, CC can barely discriminate between true 11q23+/MLL+ and rearrangements clustering within the 11q22-25 region without MLL involvement (MLL-). We characterized a series of 378 consecutive patients with adult acute leukemia by using CC, fluorescence in situ hybridization (FISH), and multiplex karyotyping (M-FISH) analysis. Our aim was to define the frequency of cryptic MLL+ cases and the frequency of MLL+ within 11q22-25+ cases. As expected, FISH was more sensitive than CC in detecting MLL+ cases, but rather unexpectedly, 9 (45%) of 20 patients with 11q22-25+ were MLL-. A better characterization of 11q22-25+/MLL- leukemias is relevantfor the identification of new, recurrent translocations. Moreover, these cases should be readily distinguishable from 11q23+/MLL+ cases. We recommend that karyotypic analysis always be complemented by molecular or FISH methods to unravel MLL rearrangements.

Original languageEnglish
Pages (from-to)298-306
Number of pages9
JournalAmerican Journal of Clinical Pathology
Issue number2
Publication statusPublished - Aug 2004


  • 11q22-25
  • 11q23
  • Acute leukemia
  • Acute lymphoblastic leukemia
  • Acute myeloblastic leukemia
  • AL
  • ALL
  • AML
  • Chromosomal aberrations
  • FISH
  • Fluorescence in situ hybridization
  • MLL

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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