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[Acute megakaryoblastic leukemia. Relation to trisomy 21]
X Levaltier1, O Reman, P Boutard
1Service de Pédiatrie, CHRU et du Laboratoire d'Anatomo-Pathologie, Caen.
Archives Francaises De Pediatrie
|October 1, 1991
Summary
Acute megakaryoblastic leukemia is rare in children. This study describes two pediatric cases, highlighting diagnostic challenges and poor outcomes, with a review of 51 literature cases.
Area of Science:
- Pediatric Hematology Oncology
- Cell Biology
Background:
- Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia.
- AMKL primarily affects infants and young children, posing diagnostic and therapeutic challenges.
Observation:
- Two pediatric cases of AMKL are presented: a 4-month-old and a 13-year-old girl.
- The first case exhibited hepatomegaly and portal fibrosis, diagnosed via megakaryoblast surface phenotyping, with chromosomal abnormalities (trisomy 13, 14, 19, extra X).
- The second case required electron microscopy for megakaryoblast identification.
Findings:
- Both patients experienced rapid disease progression and succumbed shortly after treatment initiation.
- Cytosine-arabinoside (low dose) and polychemotherapy were administered, with limited efficacy.
- A comprehensive review of 51 previously reported AMKL cases in the literature is included.
Implications:
- This case series underscores the aggressive nature of pediatric AMKL and the urgent need for improved diagnostic tools and therapeutic strategies.
- Further research into the specific genetic and cellular mechanisms driving AMKL is crucial for developing targeted treatments.
- Early and accurate diagnosis, potentially aided by advanced techniques like electron microscopy and detailed cytogenetic analysis, is vital for managing this rare leukemia.