ISODICENTRIC (X)(Q13) IN HEMATOLOGICAL MALIGNANCIES - PRESENTATION OF5 NEW CASES, APPLICATION OF FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)AND REVIEW OF THE LITERATURE
J. Dierlamm et al., ISODICENTRIC (X)(Q13) IN HEMATOLOGICAL MALIGNANCIES - PRESENTATION OF5 NEW CASES, APPLICATION OF FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)AND REVIEW OF THE LITERATURE, British Journal of Haematology, 91(4), 1995, pp. 885-891
Idic(X)(q13) represents a rare but recurrent chromosomal abnormality i
n haematological malignancies. We present five new cases characterized
by this particular aberration and review the literature on this subje
ct, The patients were elderly females with a diagnosis of refractory a
naemia (1/5), refractory anaemia with ringed sideroblasts (2/5), chron
ic myelomonocytic leukaemia (1/5), and Philadelphia chromosome-negativ
e chronic myeloid leukaemia (1/5), Three out of the five patients demo
nstrated an increased proportion of bone marrow ringed sideroblasts. A
fter a follow-up period of 30-57 months all patients but one are alive
. Idic(X)(q13) always occurred as the sole chromosomal abnormality, ei
ther 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-sat
ellite probe, and performed chromosome painting to visualize possible
additional chromosomal changes involving the X chromosomes. Our findin
gs 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 patho
logical iron accumulation; (3) indicates a variable prognosis.