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Clonal evolution of monosomy 7 in acquired severe aplastic anemia: Two cases treated with allogeneic hematopoietic stem cell transplantation
Aplastic anemia (AA) may evolve into clonal diseases like myelodysplastic syndrome (MDS) and acute myeloblastic leuke¬mia (AML). Monosomy 7 is a poor prognostic chromosomal abnormality commonly associated with therapy related MDS and secondary AML. It has also been associated with leukomogenic transformation in AA. We present here two adult ma¬le patients with acquired severe AA. Both patients had received immunosuppressive therapy (IST) as first line treatment and had monosomy 7 positive clone at transformation to MDS with refractory anemia and excess of blast (RAEB-II) and AML, respectively. Both patients have undergone allogeneic hematopoietic stem cell (HSC) transplantation from their HLA identical donors (unrelated and sibling).

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Authors: Şule Mine Bakanay, Pervin Topçuoglu, Aynur Uğur Bilgin, Kanay Yararbaş, Sibel Berker Karaüzüm, Muhit Özcan, Mutlu Arat, Levent Ündar, Osman Ilhan

Keywords: Aplastik anemi, klonal hastalık, monozomi 7

  • Year: 2008
  • Number: 2
  • Referance No: 65265
  • Figure 1. The first bone marrow biopsy of case 1 (2001) diagnosed as aplastic anemia. It was hypocellular without any hematopoietic elements (a,b). The aspiration smear revealed lymphocytes and plasma cells (c,d).
  • Figure 2. The bone marrow biopsy of case 1 in 2005 was diagnosed as RAEB-II. The biopsy was hypercellular (a) with increased immature erythroid precursors (b,c) and CD34 positive blasts (c,d).
  • Figure 3. FISH analysis of monosomy 7. One probe (orange) was used to evaluate the band7q31 (LSI D7S486) region of chromosome 7 and the other probe (green) was used to evaluate the 7p11.1-q11.1 locus D7ZI region at the centromere. In normal interphase nucleus, two signals from each probe are obtained. However, in presence of monosomy 7, only one signal from each probe is obtained.

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