Transient myelodysplastic syndrome associated with isochromosome 7q abnormality

Pediatr Hematol Oncol. Oct-Nov 2003;20(7):539-45. doi: 10.1080/08880010390232754.


Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / pathology
  • Bone Marrow Examination
  • Cell Transformation, Neoplastic / genetics
  • Chromosomes, Human, Pair 7*
  • Clone Cells / pathology
  • Female
  • Humans
  • Infant
  • Isochromosomes*
  • Myelodysplastic Syndromes / diagnosis
  • Myelodysplastic Syndromes / genetics*
  • Neoplasm Regression, Spontaneous*