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As a group, acute leukaemias are the most common childhood malignancies, and continue to be an important cause of non-accident related childhood mortality. Fortunately, with modern chemotherapy the majority of children and young p...
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As a group, acute leukaemias are the most common childhood malignancies, and continue to be an important cause of non-accident related childhood mortality. Fortunately, with modern chemotherapy the majority of children and young people with leukaemia can be cured. However, this treatment comes with a significant burden for our young patients and their families. Here, we review the essential and differential diagnostics and the initial management of children with suspected leukaemia, as relevant for secondary paediatric care. We will give a short overview of current treatment protocols for childhood acute lymphoblastic and acute myeloid leukaemia. We will explain how stratification according to certain prognostic factors - most importantly response to therapy - guides treatment intensity. Using modern molecular techniques for minimal residual disease monitoring and molecular disease classification, it is increasingly possible to identify patients with a cure rate well above 90% in whom a reduction in treatment intensity may seem feasible. In addition, these techniques also allow the definition of poor-risk patients who may benefit from more intensive chemotherapy and bone-marrow transplantation. Finally, we discuss long-term follow-up of survivors of childhood leukaemia as a multidisciplinary paediatric team approach, as well as the challenges of transition into adult care.
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摘要 :
As a group, acute leukaemias are the most common childhood malignancies, and continue to be an important cause of non-accident related childhood mortality. Fortunately, with modern chemotherapy the majority of children and young p...
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As a group, acute leukaemias are the most common childhood malignancies, and continue to be an important cause of non-accident related childhood mortality. Fortunately, with modern chemotherapy the majority of children and young people with leukaemia can be cured. However, this treatment comes with a significant burden for our young patients and their families. Here, we review the essential and differential diagnostics and the initial management of children with suspected leukaemia, as relevant for secondary paediatric care. We will give a short overview of current treatment protocols for childhood acute lymphoblastic and acute myeloid leukaemia. We will explain how stratification according to certain prognostic factors - most importantly response to therapy - guides treatment intensity. Using modern molecular techniques for minimal residual disease monitoring and molecular disease classification, it is increasingly possible to identify patients with a cure rate well above 90% in whom a reduction in treatment intensity may seem feasible. In addition, these techniques also allow the definition of poor-risk patients who may benefit from more intensive chemotherapy and bone-marrow transplantation. Finally, we discuss long-term follow-up of survivors of childhood leukaemia as a multidisciplinary paediatric team approach, as well as the challenges of transition into adult care.
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Summary Until now, the role that seasonal factors play in the aetiology of acute myeloid leukaemia (AML) has been unclear. Demonstration of seasonality in AML diagnosis would provide supportive evidence of an underlying seasonal a...
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Summary Until now, the role that seasonal factors play in the aetiology of acute myeloid leukaemia (AML) has been unclear. Demonstration of seasonality in AML diagnosis would provide supportive evidence of an underlying seasonal aetiology. To investigate the potential seasonal and long‐term trends in AML diagnosis in an overall population and in subgroups according to sex and age, we used population‐based data from a Spanish hospital discharge registry. We conducted a larger study than any to date of 26?472 cases of AML diagnosed in Spain between 2004 and 2015. Using multivariable Poisson generalized linear autoregressive moving average modelling, we found an upward long‐term trend, with monthly incidence rates of AML annually increasing by 0.4% [95% confidence interval (CI), 0.2%–0.6%; p?=?0.0011]. January displayed the highest incidence rate of AML, with a minimum average difference of 7% when compared to February (95% CI, 2%–12%; p?=?0.0143) and a maximum average difference of 16% compared to November (95% CI, 11%–21%; p?收起
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The modified Matutes score has been the basis for the diagnosis of chronic lymphocytic leukaemia (CLL) by flow cytometry for the past 15years. To increase the specificity of the current score we systematically evaluated the diagno...
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The modified Matutes score has been the basis for the diagnosis of chronic lymphocytic leukaemia (CLL) by flow cytometry for the past 15years. To increase the specificity of the current score we systematically evaluated the diagnostic value of established as well as novel markers, such as CD200, in a large cohort of patients with untreated B-cell malignancies (n=370). Double positivity for CD5 and CD23 was of very high value to differentiate between CLL and non-CLL cases. In addition, lack of FMC7 expression as well as CD79b expression intensity showed high sensitivity (90.4% and 92.3%) with acceptable specificity (74.4% and 76.9%). For surface IgM, low or absent expression displayed poor specificity in distinguishing CLL from non-CLL cases (51,3%; sensitivity 83,7%). Finally, CD200 positivity showed high sensitivity and specificity. Therefore, CD5/CD23, FMC7, CD79b and CD200 were included in our new CLLflow score, which retained high sensitivity (97.1% vs. 98.6% for the Matutes score, P=0.38), but showed markedly increased specificity (87.2% vs. 53.8%, P<0.001). These results were confirmed in our validation cohort (sensitivity 97.0% vs. 100%, P=not applicable; specificity 86.4% vs. 59.1%, P=0.03). Our data support the use of our new CLLflow score for the diagnosis of CLL with significantly higher specificity.
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The scenario of paediatric acute myeloid leukaemia (AML), particularly non-Down syndrome acute megakaryoblastic leukaemia (non-DS-AMKL), has been recently revolutionized by the advent of large-scale, genomic sequencing technologie...
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The scenario of paediatric acute myeloid leukaemia (AML), particularly non-Down syndrome acute megakaryoblastic leukaemia (non-DS-AMKL), has been recently revolutionized by the advent of large-scale, genomic sequencing technologies. In this changing landscape, a significantly relevant discovery has been represented by the identification of the CBFA2T3-GLIS2 fusion gene, which is the result of a cryptic inversion of chromosome 16. It is the most frequent chimeric oncogene identified to date in non-DS-AMKL, although it seems not to be exclusively restricted to the French-American-British M7 subgroup. The CBFA2T3-GLIS2 fusion gene characterizes a subtype of leukaemia that is specific to paediatrics, having never been identified in adults. It characterizes an extremely aggressive leukaemia, as the presence of this fusion is associated with a grim outcome in almost all of the case series reported, with overall survival rates ranging between 15% and 30%. Although the molecular basis that underlies this leukaemia subtype is still far from being completely elucidated, unique functional properties induced by CBFA2T3-GLIS2 in the leukaemogenesis driving process have been recently identified. We here review the peculiarities of CBFA2T3-GLIS2-positive AML, describing its intriguing clinical and biological behaviour and providing some challenging targeting opportunities.
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Hairy cell leukaemia (HCL) has distinct clinical, morphological and immunophenotypic features with no recurrent cytogenetic or molecular abnormalities reported until the recent description of the BRAF V600E mutation in patients wi...
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Hairy cell leukaemia (HCL) has distinct clinical, morphological and immunophenotypic features with no recurrent cytogenetic or molecular abnormalities reported until the recent description of the BRAF V600E mutation in patients with classical HCL. The incidence of this mutation was sought in 27 patients with either classical HCL or HCL variant by an allele-specific PCR approach and findings related to morphology, cytochemistry and immunophenotype. A high degree of correlation was noted between the presence of BRAF V600E and established diagnostic criteria in 26/27 patients with HCL/HCL variant. Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy.
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Early diagnosis of cancer is essential for the choice of appropriate therapy, and thus the chance of recovery. Parents play a crucial role in detecting the first signs of cancer in their children. The aim of this study was to asse...
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Early diagnosis of cancer is essential for the choice of appropriate therapy, and thus the chance of recovery. Parents play a crucial role in detecting the first signs of cancer in their children. The aim of this study was to assess parental knowledge on the early signs of leukaemia and to increase their cancer vigilance. A survey was conducted among 327 parents of 3-10-year-olds in two Polish towns: Nowa Sól and Nowe Miasteczko as well as on the Internet. Parents were asked about their responses to potential signs of leukaemia. The obtained data were analysed, considering parental education and gender, child's health status and place of residence. A total of 98% of respondents were able to provide a correct definition of leukaemia. Enlarged lymph nodes, fever, cough, headache and vomiting are the most common reasons for medical appointments. Pale skin, fatigue and apathy were a group of symptoms that did not raise parental concern. Up to three-quarters of parents associated limb pain with the process of growing, and only 7% - with cancer. It was found that parents with at most secondary education reported to the doctor due to alarming symptoms more often than those with higher education. Women were more perceptive of suspicious symptoms than men. Parents of chronically ill children are more perceptive of extravasations, fever and bruises. Although leukaemia is not a taboo, its potential symptoms do not raise parental oncological vigilance. Women, parents of chronically ill children, parents without higher education and medical graduates show the highest vigilance in childcare. The presented data indicate the need for parental education on the first signs of cancer. ? Pediatr Med Rodz 2019.
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