PMID- 8547134
OWN - NLM
STAT- MEDLINE
DCOM- 19960220
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 91
IP  - 4
DP  - 1995 Dec
TI  - Isodicentric (X)(q13) in haematological malignancies: presentation of five new 
      cases, application of fluorescence in situ hybridization (FISH) and review of the 
      literature.
PG  - 885-91
AB  - Idic(X)(q13) represents a rare but recurrent chromosomal abnormality in 
      haematological malignancies. We present five new cases characterized by this 
      particular aberration and review the literature on this subject. The patients 
      were elderly females with a diagnosis of refractory anaemia (1/5), refractory 
      anaemia with ringed sideroblasts (2/5), chronic myelomonocytic leukaemia (1/5), 
      and Philadelphia chromosome-negative chronic myeloid leukaemia (1/5). Three out 
      of the five patients demonstrated an increased proportion of bone marrow ringed 
      sideroblasts. After a follow-up period of 30-57 months all patients but one are 
      alive. Idic(X)(q13) always occurred as the sole chromosomal abnormality, either 
      in one or in two copies. We confirmed the dicentric nature of the aberration by 
      fluorescence in situ hybridization (FISH) on metaphases as well as interphase 
      nuclei using an X-chromosome-specific alpha-satellite probe, and performed 
      chromosome painting to visualize possible additional chromosomal changes 
      involving the X chromosomes. Our findings and the data of 17 previously published 
      cases indicate that idic(X)(q13): (1) may play a significant pathogenetic role in 
      haematological malignancies affecting exclusively females and deriving 
      predominantly from early progenitor cells; (2) is frequently associated with a 
      pathological iron accumulation; (3) indicates a variable prognosis.
FAU - Dierlamm, J
AU  - Dierlamm J
AD  - Centre for Human Genetics, University of Leuven, Belgium.
FAU - Michaux, L
AU  - Michaux L
FAU - Criel, A
AU  - Criel A
FAU - Wlodarska, I
AU  - Wlodarska I
FAU - Zeller, W
AU  - Zeller W
FAU - Louwagie, A
AU  - Louwagie A
FAU - Michaux, J L
AU  - Michaux JL
FAU - Mecucci, C
AU  - Mecucci C
FAU - Van den Berghe, H
AU  - Van den Berghe H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - E1UOL152H7 (Iron)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Iron/metabolism
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/*genetics/metabolism
MH  - *X Chromosome
RF  - 23
EDAT- 1995/12/01 00:00
MHDA- 1995/12/01 00:01
CRDT- 1995/12/01 00:00
PHST- 1995/12/01 00:00 [pubmed]
PHST- 1995/12/01 00:01 [medline]
PHST- 1995/12/01 00:00 [entrez]
AID - 10.1111/j.1365-2141.1995.tb05405.x [doi]
PST - ppublish
SO  - Br J Haematol. 1995 Dec;91(4):885-91. doi: 10.1111/j.1365-2141.1995.tb05405.x.