PMID- 8536230
OWN - NLM
STAT- MEDLINE
DCOM- 19960208
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 84
IP  - 2
DP  - 1995 Oct 15
TI  - 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.
PG  - 99-104
AB  - 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.
FAU - Shekhter-Levin, S
AU  - Shekhter-Levin S
AD  - Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA.
FAU - Penchansky, L
AU  - Penchansky L
FAU - Wollman, M R
AU  - Wollman MR
FAU - Sherer, M E
AU  - Sherer ME
FAU - Wald, N
AU  - Wald N
FAU - Gollin, S M
AU  - Gollin SM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 143011-72-7 (Granulocyte Colony-Stimulating Factor)
SB  - IM
MH  - Agranulocytosis/*congenital/therapy
MH  - Child
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 7
MH  - Down Syndrome/*genetics
MH  - Granulocyte Colony-Stimulating Factor/*therapeutic use
MH  - Humans
MH  - Karyotyping
MH  - Leukemia, Basophilic, Acute/*genetics
MH  - Male
MH  - *Monosomy
MH  - Myelodysplastic Syndromes/*genetics
EDAT- 1995/10/15 00:00
MHDA- 1995/10/15 00:01
CRDT- 1995/10/15 00:00
PHST- 1995/10/15 00:00 [pubmed]
PHST- 1995/10/15 00:01 [medline]
PHST- 1995/10/15 00:00 [entrez]
AID - 016546089500095X [pii]
AID - 10.1016/0165-4608(95)00095-x [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1995 Oct 15;84(2):99-104. doi: 
      10.1016/0165-4608(95)00095-x.