Related Experiment Video

Updated: Aug 19, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
09:16

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on: September 1, 2019

Cryptic 5' MLL gene insertion in an X-chromosome in acute myeloblastic leukemia

Nathalie Douet-Guilbert1, Bertrand Arnaud, Frédéric Morel

  • 1Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France.

Cancer Genetics and Cytogenetics
|February 22, 2005
PubMed

Insights

A rare 5' MLL insertion into the X chromosome was identified in an adult with acute myeloblastic leukemia (FAB-M5). This finding highlights a recurrent genetic abnormality in leukemia beyond infancy.

Area of Science:

  • Genetics
  • Hematology
  • Oncology

Background:

  • Band 11q23 abnormalities are common in leukemia, often leading to MLL gene rearrangements.
  • These rearrangements involve translocations and insertions with various partner chromosomes, fusing MLL with other genes.

Observation:

  • A 43-year-old male diagnosed with acute myeloblastic leukemia (FAB-M5) presented with asthenia and pancytopenia.
  • Conventional cytogenetics revealed a deletion on chromosome 11 at band q21 (del(11)(q21)).

Findings:

  • Fluorescent in situ hybridization (FISH) confirmed MLL gene disruption.
  • The 5' region of the MLL gene was found to be inserted into the X chromosome (bands q24-q25).

Implications:

  • This 5'-MLL insertion into the X chromosome is a rare but recurrent genetic abnormality in acute myeloblastic leukemia.
  • The abnormality is observed not only in infants but also in adult leukemia cases.
  • This case expands the understanding of MLL gene involvement in adult leukemia pathogenesis.

More Related Videos

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances07:35

Selecting Multiple Biomarker Subsets with Similarly Effective Binary Classification Performances

Published on: October 11, 2018

Intra-Peritoneal Transplantation for Generating Acute Myeloid Leukemia in Mice10:02

Intra-Peritoneal Transplantation for Generating Acute Myeloid Leukemia in Mice

Published on: January 6, 2023

Related Concept Videos

Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...