PMID- 7664240
OWN - NLM
STAT- MEDLINE
DCOM- 19951011
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 82
IP  - 2
DP  - 1995 Jul 15
TI  - Heterogeneity of lineage involvement by trisomy 8 in myelodysplastic syndrome. A 
      multiparameter analysis combining conventional cytogenetics, DNA in situ 
      hybridization, and bone marrow culture studies.
PG  - 116-22
AB  - To better understand the role of trisomy 8 in myelodysplastic syndrome (MDS), we 
      performed a multiparameter analysis combining conventional chromosome studies 
      (CCS), fluorescence in situ hybridization (FISH), and bone marrow (BM) culture 
      studies in two patients with MDS evolving into acute myeloid leukemia (AML). A 
      mosaicism of a cytogenetically normal clone and a clone with trisomy 8 was 
      detected in both patients throughout the course of the disease, a finding 
      confirmed by FISH on BM cells. The relative size of the trisomic clone increased 
      from 52% to 71% (p < 0.0001) and from 53% to 69% (p = 0.001) of all BM cells at 
      the time of the leukemic switch in patients 1 and 2, respectively. Combined FISH 
      and immunophenotyping of BM cells showed involvement of the granulomonocytic 
      lineage in patient 1 and involvement of erythroid cells as well as of the 
      granulomonocytic lineage in patient 2. Only disomic lymphocytes were detected in 
      both patients. FISH on single hemopoietic colonies grown in semisolid media 
      detected trisomic CFU-GM and disomic BFU-E in patient 1, whereas a proportion of 
      CFU-GM and BFU-E deriving from the trisomic clone was detected in patient 2. 
      However, the percent of trisomic colonies was lower than the percent of involved 
      granulomonocyte precursors and involved erythroblasts, as detected by combined 
      FISH and immunophenotyping on fresh BM samples. We have thus shown heterogeneity 
      of lineage involvement by trisomy 8 in MDS undergoing transformation into AML. 
      Although preferential growth of disomic clones may occur in vitro, the finding of 
      an increased size of the trisomic clone at the time of leukemic switch suggests 
      that these cells had proliferative advantage in vivo over cells without trisomy 
      8.
FAU - Fagioli, F
AU  - Fagioli F
AD  - Institute of Hematology, University of Ferrara, Italy.
FAU - Cuneo, A
AU  - Cuneo A
FAU - Bardi, A
AU  - Bardi A
FAU - Carli, M G
AU  - Carli MG
FAU - Bigoni, R
AU  - Bigoni R
FAU - Balsamo, R
AU  - Balsamo R
FAU - Previati, R
AU  - Previati R
FAU - Pazzi, I
AU  - Pazzi I
FAU - Roberti, G
AU  - Roberti G
FAU - Rigolin, G M
AU  - Rigolin GM
AU  - et al.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Aged
MH  - Bone Marrow/*chemistry/ultrastructure
MH  - Cells, Cultured
MH  - *Chromosomes, Human, Pair 8
MH  - DNA/*analysis
MH  - *Genetic Heterogeneity
MH  - Humans
MH  - Immunophenotyping
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Myelodysplastic Syndromes/*genetics
MH  - Trisomy/*genetics
EDAT- 1995/07/15 00:00
MHDA- 1995/07/15 00:01
CRDT- 1995/07/15 00:00
PHST- 1995/07/15 00:00 [pubmed]
PHST- 1995/07/15 00:01 [medline]
PHST- 1995/07/15 00:00 [entrez]
AID - 0165460894002284 [pii]
AID - 10.1016/0165-4608(94)00228-4 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1995 Jul 15;82(2):116-22. doi: 
      10.1016/0165-4608(94)00228-4.