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Aplastic Anemia and Monosomy 7–Associated Dysmegakaryocytopoiesis

Michelle M. Dolan MD, Timothy P. Singleton MD, Joseph Neglia MD, MPH, Adina Cioc MD
DOI: http://dx.doi.org/10.1309/50GWDKVWU3VWL5XW 925-930 First published online: 1 December 2006


Aplastic anemia (AA) is marrow failure due to an inadequate number of hematopoietic cells in the marrow. Prior reports have described a more aggressive clinical course in aplastic anemia with monosomy 7.

We report 3 pediatric cases of AA with normal cytogenetics followed by acquisition of monosomy 7. Bone marrow biopsies were initially diagnostic of AA but later showed monosomy 7 and an increased number of megakaryocytes with small hypolobated nuclei. Immunohistochemical stains for CD61 highlighted the marked dysmegakaryocytopoiesis. The marrow blast percentage was increased in only 1 patient with 4.6% blasts. The 3 patients underwent bone marrow transplantation, and each has remained disease free for 7 to 18 months after transplantation.

Pediatric patients with AA and normal cytogenetics may develop monosomy 7 with a myelodysplastic syndrome, unclassified. Patients with AA and monosomy 7 should be evaluated for dysmegakaryocytopoiesis.

Key Words:
  • Aplastic anemia
  • Monosomy 7
  • Myelodysplasia