An abnormal clone with monosomy 7 and trisomy 21 in the bone marrow of a child with congenital agranulocytosis (Kostmann disease) treated with granulocyte colony-stimulating factor: Evolution towards myelodysplastic syndrome and acute basophilic leukemia

Cytogenetic analysis of bone marrow cells revealed an abnormal clone with monosomy 7 and trisomy 21 in a 12-year-old child with Kostmann disease (KD). The patient presented with anemia, thrombocytopenia, and splenomegaly after 5 years of treatment with granulocyte colony-stimulating factor (G-CSF)....

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Bibliographic Details
Published in:Cancer genetics and cytogenetics 1995-10, Vol.84 (2), p.99-104
Main Authors: Shekhter-Levin, Sofia, Penchansky, Lila, Wollman, Michael R., Sherer, Maureen E., Wald, Niel, Gollin, Susanne M.
Format: Article
Language:English
Subjects:
Agranulocytosis - congenital
Agranulocytosis - therapy
Biological and medical sciences
Child
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 7
Down Syndrome - genetics
Granulocyte Colony-Stimulating Factor - therapeutic use
Hematologic and hematopoietic diseases
Humans
Karyotyping
Leukemia, Basophilic, Acute - genetics
Male
Medical sciences
Monosomy
Myelodysplastic Syndromes - genetics
Other diseases. Hematologic involvement in other diseases
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Summary:Cytogenetic analysis of bone marrow cells revealed an abnormal clone with monosomy 7 and trisomy 21 in a 12-year-old child with Kostmann disease (KD). The patient presented with anemia, thrombocytopenia, and splenomegaly after 5 years of treatment with granulocyte colony-stimulating factor (G-CSF). The bone marrow morphology was consistent with the diagnosis of myelodysplastic syndrome (MDS). Administration of G-CSF was discontinued at this point. Bone marrow studies 2 and 5 months later showed persistence of both myelodysplasia and the abnormal clone with monosomy 7 and trisomy 21. Monosomy 7 was also confirmed by fluorescence in situ hybridization (FISH). After 2 months of follow-up, the patient presented with acute basophilic leukemia, a very rare variant of acute myeloid leukemia (AML), expressing the same bone marrow chromosome abnormalities as observed earlier. This is a rare case of KD with prolonged survival and a cytogenetically abnormal clone evolving to MDS and acute basophilic leukemia. The significance of monosomy 7 and trisomy 21 in KD treated with G-CSF is discussed.
ISSN:0165-4608
1873-4456
DOI:10.1016/0165-4608(95)00095-X