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Jumping translocation in a case of de novo infant acute myeloid leukemia

Mayur Parihar1, Anurag Gupta, Anil Kumar Yadav

  • 1Department of Cytogenetics and Laboratory Hematology, Tata Medical Center, Kolkata, India.

Pediatric Blood & Cancer
|September 11, 2013
PubMed

Insights

A rare jumping translocation (JT) on chromosome 1 was found in an infant with acute myeloid leukemia (AML). This genetic abnormality may play a key role in causing infant AML, not just its progression.

Area of Science:

  • Genetics
  • Pediatric Oncology
  • Hematology

Background:

  • Acute myeloid leukemia (AML) in infants is rare and often associated with complex genetic alterations.
  • Jumping translocations (JT) are uncommon chromosomal rearrangements, and their role in pediatric AML is not fully understood.

Observation:

  • An infant presented with symptoms including fever, ear discharge, proptosis, and hepatosplenomegaly.
  • Diagnostic workup revealed acute monoblastic leukemia through bone marrow morphological and flowcytometric analysis.

Findings:

  • Karyotyping identified a jumping translocation (JT) involving chromosome 1 as the sole cytogenetic abnormality in the infant's leukemia cells.
  • The patient's condition rapidly progressed, leading to death within two months of diagnosis.

Implications:

  • The presence of JT as the sole abnormality in de novo infant AML suggests a potential role in leukemogenesis.
  • This finding challenges previous notions that JT is exclusively involved in tumor progression, highlighting its possible role as an initiating event in infant leukemia.

Keywords:
1qJumping translocationacute monoblastic leukemiainfant AML

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