Aplastic anemia and monosomy 7-associated dysmegakaryocytopoiesis

Michelle M Dolan, Timothy P. Singleton, Joseph P Neglia, Adina Cioc

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7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)925-930
Number of pages6
JournalAmerican journal of clinical pathology
Issue number6
StatePublished - Dec 2006


  • Aplastic anemia
  • Monosomy 7
  • Myelodysplasia


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