H Hasle

..Cytogenetics and serial assessments of the patients are essential adjuncts to morphology both in diagnosis and classification...

..A number of significant advances have been achieved in recent years. The present review will focus on diagnostics and therapy...

..In conclusion, GO therapy postconsolidation as given in this trial was well tolerated, showed a nonsignificant delay in time to relapse, but did not change the rate of relapse or survival (clinicaltrials.gov identifier NCT00476541)...

..Childhood AML with chromosome 7 aberrations represents a heterogeneous group of disorders with additional cytogenetic aberrations having a major prognostic impact which should be reflected in future risk-group stratification...

..Registry-based studies of patients with NS and related disorders diagnosed with molecular genetics and a high-quality long-term follow-up are necessary to further estimate the incidence of malignancy...

..Increased susceptibility to apoptosis in DS may result in cell death rather than malignant transformation after major cell injuries. This hypothesis would explain the decreased risk of both solid tumours and secondary cancers...

..The distinctive pattern of malignancies may provide clues in the search for leukaemogenic genes and tumour suppressor genes on chromosome 21...

..Intensive chemotherapy before HSCT should be considered in patients with myelodysplasia-related-AML (MDR-AML)...

..In conclusion, the IPSS is of limited value in both pediatric MDS and JMML. The results reflect the differences between myelodysplastic and myeloproliferative diseases in children and adults...

..Fourteen (82%) of 17 TRDs occurred in children undergoing haematopoietic stem cell transplantations (HSCT). Optimal supportive care after HSCT is essential, and studies on risk factors for TRD are needed...

..Individuals with Down's syndrome have a greater risk of leukaemia than the general population, but reliable estimates of the age-specific risk are lacking and little is known about the risk of solid tumours...

..Colon cancer was observed in five patients (relative risk 6.9, 95% confidence interval 2.2-16.2). Further studies are needed to assess whether colon cancer in TS is related to Turner-associated genes on the sex chromosome(s)...

..28 (95% confidence interval: 0.1-0.8). The possibility that the expanded trinucleotide repeats in fragile X syndrome protect against cancer is discussed...

..The overall cancer incidence is not increased and no routine cancer screening seems to be justified. A considerably elevated risk of mediastinal germ cell tumours occurs in the period from early adolescence until the age of 30...

..Data on MDS from treatment-based studies and cancer registries were inaccurate and seemed to significantly underestimate the incidence of MDS in children...

..The number of EDs and TRDs in AML is high. Therefore optimal antifungal prophylaxis is essential, and studies on the benefit of antibacterial prophylaxis and individual risk factors for ED and TRD are needed...

..A significant proportion of children with relapsed AML can be cured, even those with early relapse. Children who receive re-induction therapy, enter remission and proceed to SCT can achieve a cure rate of 60%...

..We conclude that WT1 expression by RQ-PCR may be employed as a tool to detect MRD in the majority of fusion transcript-negative AML patients...

..The overall outcome was improved by employing the previous toxic protocol with different timings, and through individualizing therapy according to the initial response of the patient...

..Further studies are needed to define the optimal regimen for treating myeloid leukaemia of DS...

..This direct comparison between the two subgroups of CBF AMLs delineates clear biological differences and corroborates the value of RQ-PCR...

..Disease recurrence remains the major cause of treatment failure. Outcome of UD-HSCT recipients is comparable to that of children receiving transplants from an HLA-identical sibling...

..Unraveling some of the underlying genetic factors predisposing to MDS at a young age may give important insights into leukemogenesis in the elderly...

..Recommendations for best treatment options for children with other chromosomal abnormalities or normal karyotype may have to await results of prospective clinical trials...

..In conclusion, CR1 WT1 expression is an independent prognostic factor in AML. According to our model, BM is superior for relapse prediction, but PB samples are useful when shorter sampling intervals are possible...

..Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function...

..To evaluate if dissolution of asparaginase in lidocaine can relieve pain of an intramuscular injection in children without changes in bioavailability...

..Classification schemas applied in other forms of leukemia are of little value, because in JMML therapy may result in divergent responses in solid organs compared to peripheral blood (PB)...

..Genetic techniques complement each other and selection of relevant and targeted primer kits for the multiplex RT-PCR assay is recommended...

..Molecular mapping of these breakpoints might provide new insight into cancer predisposition...

..The lack of normalization of WT1 level may be a predictor of leukemia development and WT1 expression may be an attractive marker for monitoring of minimal residual disease...

..00). In conclusion, 3% of children with ALL died of TRD, with bacterial infections as the most common cause of death. Girls and Down syndrome patients had a higher risk of TRD. Infections still remain a major challenge in childhood ALL...

..This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML...

..The high proportion of female DS patients with AML is unexplained. The differing treatment results in AML versus ALL need further evaluation and represent a challenge for the coming years...

..In five patients, a cytogenetically unrevealed fusion gene of prognostic importance was detected, while the assay failed to detect one case of t(15;17)...