Details

Autor(en) / Beteiligte

• Uyttebroeck, Anne
• Brock, Penelope
• De Groote, Bert
• Renard, Marleen
• Dal Cin, Paola
• Van Den Berghe, Herman
• Casteels-Van Daele, Maria

Titel

5q — syndrome in a child

Ist Teil von

• Cancer genetics and cytogenetics, 1995-04, Vol.80 (2), p.121-123

Ort / Verlag

New York, NY: Elsevier Inc

Erscheinungsjahr

1995

Quelle

Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)

Beschreibungen/Notizen

• A boy aged 8 years, 10 months presented with refractory anemia. Bone marrow investigation revealed monolobular megakaryocytes. Cytogenetic analysis showed a clonal abnormality: 46, XY, del(5)(q14q32). This is the youngest individual ever reported with this disorder. A year after diagnosis, while on treatment with human recombinant erythropoietin, the bone marrow showed an excess of blasts. No bone marrow donor could be found. Transformation to acute myelomonocytic leukemia occurred 3 months later. In spite of intensive chemotherapy, the child died of progressive disease with massive splenomegaly and jaundice. The case illustrates that the 5q- syndrome can occur de novo in children. The outcome in this child was poor, which may reflect a difference from the adult 5q- syndrome or may possibly be related to the erythropoietin the child received.