Isodicentric (X)(q13) in haematological malignancies: presentation of five new cases, application of fluorescence in situ hybridization (FISH) and review of the literature

Summary. 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.     

Deletions of the long arm of chromosome 7 in myeloid disorders: loss of band 7q32 implies worst prognosis

Clinical and cytogenetic data were analysed in 54 patients with acute non-lymphocytic leukaemias (ANLL) or MDS (myelodysplastic syndromes) and deletion of the long arm of chromosome 7 (7q−), in order to determine if there is a commonly deleted region in 7q and to establish possible correlations between karyotypic features, such as karyotype pattern, karyotype complexity, associated anomalies, and/or the type of deleted segments, and outcome of patients with these disorders.
The median follow-up of our patients was 4 months (range 1–89), as was the median survival. In 30% of the cases there was a history of preceding MDS or previous chemotherapy. Clinical and cytogenetic remission was obtained in 7/36 patients treated with chemotherapy (CT). At the time of 7q− detection, three patients previously treated with CT for ANLL were in clinical remission. 5q− was the most recurrent associated abnormality. Complex karyotypes were observed in 68% of the cases. In univariate analysis, statistical differences in survival were observed according to diagnosis (therapy-related and secondary diseases had a worse prognosis than primary disorders), the chromosomal segments deleted (the loss of band 7q32 was of poor prognostic value), the karyotype complexity (patients with single anomalies did better than patients with complex anomalies) and the response to therapy (patients who achieved complete remission had a better survival probability). In multivariate analysis, the loss of band 7q32 was found to be significantly related to very poor prognosis. This finding suggests that band 7q32 may contain critical genes that should be explored at the molecular level.     

The influence of alcohol consumption and hepatitis B and C infections on the risk of liver cancer in Europe

BACKGROUND/AIMS: To assess the variability of liver cancer (LC) risk associated with hepatitis B (HBV) and hepatitis C (HCV) viruses and alcohol intake in 2002 throughout Europe. METHODS: Incidence data were obtained from population-based cancer registries whereas mortality, HBV, HCV and alcohol exposures were obtained from the WHO databases. Relative risk of LC and their posterior probabilities to be >1 were obtained and plotted in maps through a Bayesian random effects model. RESULTS: HBV prevalence >2% increased the risk of developing LC a 15% in men and 21% in women; HCV prevalence >2%, 54% in men and 33% in women and, pure alcohol intake >11l, 26% and 14%, respectively (all of them statistically significant). These risk factors played a similar role in the risk of dying from LC among men, whereas HBV and alcohol were not statistically significant among women. Significant high LC risk, after HBV/HCV and alcohol adjustment were observed for both sexes in: Hungary, Moldova, Romania, Croatia, Greece, Italy, Spain, France and Austria. CONCLUSIONS: South-North and East-West decreasing gradients for LC risk were observed in Europe. HBV, alcohol and, mainly, HCV are independent risk factors that could explain this geographical pattern.     

Chromosome 1p Abnormalities in B Non Hodgkin's Lymphoma

Thirteen patients with B-non Hodgkin's lymphoma and abnormalities of the short arm of chromosome 1 were evaluated, to see if this cytogenetic anomaly was associated with a particular subgroup of lymphomas. Large cell lymphoma was found in seven patients (with an immunoblastic component in four cases). Six patients with diffuse small cleaved cell lymphoma of non follicle centre cell origin formed a second group. The chromosome 1 breakpoints in the second group were located between p34 and p36, suggesting that genes located here may be important in the initiation or progression of these lymphomas.