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Related Concept Videos

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...

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Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
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Published on: June 27, 2020

Chronic eosinophilic leukemia with a unique translocation.

R S Arora1

  • 1Department of Pediatrics, Moolchand Khairatiram Hospital, New Delhi, India. reemaraman@doctors.org.uk

Indian Pediatrics
|June 27, 2009
PubMed
Summary

This case study details a 9-year-old girl with chronic eosinophilic leukemia, presenting with anemia, enlarged lymph nodes and spleen, and a novel translocation. Myelofibrosis and cardiac involvement were also observed.

Area of Science:

  • Hematology
  • Pediatric Oncology
  • Genetics

Background:

  • Chronic eosinophilic leukemia (CEL) is a rare hematologic malignancy.
  • Pediatric presentations of CEL are uncommon, necessitating detailed case reports for understanding disease spectrum.
  • Early diagnosis and characterization are crucial for effective management.

Observation:

  • A 9-year-old girl presented with anemia, thrombocytopenia, leukocytosis (predominantly dysplastic eosinophils), lymphadenopathy, and hepatosplenomegaly.
  • Bone marrow examination revealed myelofibrosis without an increase in blast cells.
  • Cytogenetic analysis identified a previously unreported translocation: 46,XX,t(1;4)(q24;q35).

Findings:

  • The patient exhibited clinical and hematological features consistent with chronic eosinophilic leukemia.

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  • A novel chromosomal translocation t(1;4)(q24;q35) was identified, potentially contributing to the disease pathogenesis.
  • Myocardial involvement was noted, indicating systemic disease progression.

    • Implications:

    • This case highlights a unique genetic abnormality in pediatric chronic eosinophilic leukemia.
    • The findings expand the understanding of CEL's diverse clinical and cytogenetic manifestations in children.
    • Further research into this specific translocation may offer insights into novel therapeutic targets for CEL.