PMID- 8453104
OWN - NLM
STAT- MEDLINE
DCOM- 19930416
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 81
IP  - 6
DP  - 1993 Mar 15
TI  - Cytogenetic clonality in myelodysplastic syndromes studied with fluorescence in 
      situ hybridization: lineage, response to growth factor therapy, and clone 
      expansion.
PG  - 1580-5
AB  - Clonality in myelodysplastic syndromes (MDS) has been studied with various 
      techniques including glucose-6-phosphate dehydrogenase (G6PD) isoenzyme and 
      cytogenetic analyses, and with molecular techniques such as gene deletion studies 
      and the analysis of restriction fragment-length polymorphisms (RFLP) of X-linked 
      genes. In this study, we investigated the use of fluorescence in situ 
      hybridization (FISH) with a chromosome-specific probe to examine cytogenetic 
      clonality in peripheral blood (PB) cells from three patients with MDS. In each 
      case, trisomy 8 was shown by conventional cytogenetic analysis at the time of the 
      initial diagnosis. By using FISH with a probe for the centromere of chromosome 8, 
      we identified the trisomy in individual PB cells from Wright-stained smears. With 
      this technique, we could determine the cell lineage involved by the trisomy, and 
      through serial analyses we could assess the response of the clonal and nonclonal 
      cells to growth-factor therapy, and the expansion of the trisomic clone over 
      time. In each of the three cases, various proportions of granulocytes, monocytes, 
      eosinophils, and basophils showed trisomy 8 by FISH analysis. In none of the 
      cases did we detect trisomy 8 in lymphocytes. By analysis of PB cells before and 
      during therapy with recombinant granulocyte-macrophage colony-stimulating factor 
      (GM-CSF), we found that GM-CSF stimulated both trisomic and disomic cells. During 
      a 1-year period of sequential study, we detected an abrupt increase in the 
      percentage of trisomic cells in one patient, a stable percentage in another, and 
      a slowly increasing percentage in the third. The abrupt increase in the first 
      patient preceded a transformation to a more acute phase by 2 months. We conclude 
      that FISH analysis of PB cells of patients with MDS offers an additional approach 
      to the study of clonality in this disorder. In some cases this analysis may 
      provide a useful and simple means of assessing response to therapy and 
      progression of disease.
FAU - Anastasi, J
AU  - Anastasi J
AD  - Department of Pathology and Medicine, University of Chicago, IL.
FAU - Feng, J
AU  - Feng J
FAU - Le Beau, M M
AU  - Le Beau MM
FAU - Larson, R A
AU  - Larson RA
FAU - Rowley, J D
AU  - Rowley JD
FAU - Vardiman, J W
AU  - Vardiman JW
LA  - eng
GR  - CA40046/CA/NCI NIH HHS/United States
GR  - CA42557/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 83869-56-1 (Granulocyte-Macrophage Colony-Stimulating Factor)
SB  - IM
MH  - Aged
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Granulocyte-Macrophage Colony-Stimulating Factor/*therapeutic use
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/*genetics/therapy
MH  - *Trisomy
EDAT- 1993/03/15 00:00
MHDA- 1993/03/15 00:01
CRDT- 1993/03/15 00:00
PHST- 1993/03/15 00:00 [pubmed]
PHST- 1993/03/15 00:01 [medline]
PHST- 1993/03/15 00:00 [entrez]
AID - S0006-4971(20)74708-7 [pii]
PST - ppublish
SO  - Blood. 1993 Mar 15;81(6):1580-5.