Lethal AML after stem cell transplantation in a child with DEB unresponsive Fanconi anemia

Çetin Z., Karaüzüm S. B., Küpesiz A., Hazar V., Yeşilipek M. A., Lüleci G.

HAEMA, cilt.8, sa.1, ss.136-139, 2005 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 1
  • Basım Tarihi: 2005
  • Dergi Adı: HAEMA
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.136-139
  • Anahtar Kelimeler: Acute myeloblastic leukemia, AML, DEB unresponsive Fanconi anemia, M-FISH
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Fanconi anaemia (FA) is an autosomal recessive chromosomal breakage syndrome diagnosed specifically on the basis of hypersensitivity to crosslinking agents. Fanconi anaemia patients are at high risk for developing several types of cancer, particularly acute myeloblastic leukaemia (AML). It suggested that chromosomal breaks, observed in these patients, generated by the hypersensitivity to cross-linking agents may be major predisposing factor to development of these cancers. We report here the first patient with diepoxybutane unresponsive FA who developed AML after stem cell transplantation. Bone marrow chromosomes of this case were analysed by M-FISH due to complex chromosomal aberrations that could not be resolved by conventional cytogenetics. Our findings support that 3q trisomy/tetrasomy is frequently observed in bone marrow cells of FA cases with AML and this chromosomal abnormality is associated with poor prognosis in these cases. Copyright © Hellenic Society of Haematology.