PMID- 9446663
OWN - NLM
STAT- MEDLINE
DCOM- 19980218
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 91
IP  - 3
DP  - 1998 Feb 1
TI  - 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of 
      breakpoints and deleted segments by fluorescence in situ.
PG  - 1008-15
AB  - Recently, we and other groups reported in acute myeloid leukemia (AML) and 
      myelodysplastic syndrome (MDS) a strong correlation between cytogenetic 
      rearrangements leading to 17p deletion, a typical form of dysgranulopoiesis 
      combining pseudo-Pelger-Huet hypolobulation and small vacuoles in neutrophils, 
      and p53 mutation. To gain further insight into this "17p-syndrome," we studied 17 
      cases of AML and MDS with 17p deletion by whole chromosome painting (WCP) and 
      fluorescence in situ hybridization (FISH) with probes spanning the 17p arm, 
      including a p53 gene probe. Cytogenetically, 15 patients had unbalanced 
      translocation between chromosome 17 and another chromosome (chromosome 5 in nine 
      cases and unidentified chromosome -add 17p- in three cases), one patient had 
      monosomy 17, and one had i(17q). All rearrangements appeared to result in 17p 
      deletion. Sixteen patients had additional cytogenetic rearrangements. WCP 
      analysis confirmed the cytogenetic interpretation in all cases and identified one 
      of the cases of add 17p as a t(17;22). WCP also identified chromosome 17 material 
      on a marker or ring chromosome in two cases of t(5;17). FISH analysis with 17p 
      markers made in 16 cases showed no deletion of the 17p markers studied in the 
      last two patients, who had no typical dysgranulopoiesis; p53 mutation analysis in 
      one of them was negative. In the 14 other cases, FISH showed a 17p deletion of 
      variable extent but that always included deletion of the p53 gene. All 14 
      patients had typical dysgranulopoiesis, and all but one had p53 mutation and/or 
      overexpression. These findings reinforce the morphologic, cytogenetic, and 
      molecular correlation found in the 17p-syndrome and suggest a pathogenetic role 
      for inactivation of tumor suppressor gene(s) located in 17p, especially the p53 
      gene.
FAU - Soenen, V
AU  - Soenen V
AD  - Laboratoire d'Hematologie, Service de Cytogenetique, Lille, France.
FAU - Preudhomme, C
AU  - Preudhomme C
FAU - Roumier, C
AU  - Roumier C
FAU - Daudignon, A
AU  - Daudignon A
FAU - Lai, J L
AU  - Lai JL
FAU - Fenaux, P
AU  - Fenaux P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 17
MH  - Chromosomes, Human, Pair 5
MH  - Female
MH  - *Gene Deletion
MH  - Genes, p53/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Myelodysplastic Syndromes/*genetics
MH  - Translocation, Genetic
EDAT- 1998/02/03 00:00
MHDA- 1998/02/03 00:01
CRDT- 1998/02/03 00:00
PHST- 1998/02/03 00:00 [pubmed]
PHST- 1998/02/03 00:01 [medline]
PHST- 1998/02/03 00:00 [entrez]
AID - S0006-4971(20)55359-7 [pii]
PST - ppublish
SO  - Blood. 1998 Feb 1;91(3):1008-15.