Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0026
Integration of conventional morphology and cytogenetics with newer techniques interrogating the genome-wide genetic landscape has gen-erated a detailed insight into the process of leukaemogenesis, as well as the biology of common and rarer leukaemia subtypes in childhood. This has improved diagnosis and classification, risk stratification, out-comes and has provided additional drug targets. Comparative genetic analyses between diagnosis and relapse have established that most relapses are derived from leukaemic clones present at initial diagnosis. Gene mutations acquired at relapse are associated with drug resistance which may explain the occurrence of relapse and lead to future treat-ment adaptations.
{"title":"Biology of childhood leukaemia","authors":"","doi":"10.1093/med/9780198779186.003.0026","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0026","url":null,"abstract":"Integration of conventional morphology and cytogenetics with newer techniques interrogating the genome-wide genetic landscape has gen-erated a detailed insight into the process of leukaemogenesis, as well as the biology of common and rarer leukaemia subtypes in childhood. This has improved diagnosis and classification, risk stratification, out-comes and has provided additional drug targets. Comparative genetic analyses between diagnosis and relapse have established that most relapses are derived from leukaemic clones present at initial diagnosis. Gene mutations acquired at relapse are associated with drug resistance which may explain the occurrence of relapse and lead to future treat-ment adaptations.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117088052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0039
The diagnosis and treatment of liver children in tumours are described including how staging alters treatment. The basis and philosophy of treatment in both Europe and North America and the outcome of treatment is discussed.
诊断和治疗肝儿童肿瘤描述包括分期如何改变治疗。讨论了欧洲和北美治疗的基础和理念以及治疗的结果。
{"title":"Liver tumours","authors":"","doi":"10.1093/med/9780198779186.003.0039","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0039","url":null,"abstract":"The diagnosis and treatment of liver children in tumours are described including how staging alters treatment. The basis and philosophy of treatment in both Europe and North America and the outcome of treatment is discussed.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115737091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780199299676.003.06
S. Bailey, R. Skinner
Excessive bleeding or bruising is relatively common in children. It may display relatively benign behaviour and have no identifiable cause, or it may be the presenting feature of serious illness. This chapter describes how a relevant history and physical examination followed by appropriate investigation can lead to diagnosis of the cause of excessive bleeding or bruising.
{"title":"The bleeding or bruising child","authors":"S. Bailey, R. Skinner","doi":"10.1093/med/9780199299676.003.06","DOIUrl":"https://doi.org/10.1093/med/9780199299676.003.06","url":null,"abstract":"Excessive bleeding or bruising is relatively common in children. It may display relatively benign behaviour and have no identifiable cause, or it may be the presenting feature of serious illness. This chapter describes how a relevant history and physical examination followed by appropriate investigation can lead to diagnosis of the cause of excessive bleeding or bruising.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116982277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0002
Cancer is a multistep process that originates in a single cell which develops genetic or epigenetic defects. Typically these aberrations occur in tumour suppressor genes, oncogenes or DNA repair genes, and enable the cell to proliferate uncontrollably. Cancer is a spectrum of diseases, from benign tumours that do not develop distant disease, to more aggressive, malignant tumours that can be locally invasive or metastasise to distant sites via the vascular or lymphatic system. In childhood, cancer is either sporadic, where the cause is unknown, or associated with constitutional abnormalities and cancer pre-disposition syndromes. In recent decades, improved survival rates in childhood cancer has traditionally been associated with refinement of historic therapies and treatment protocols. However a greater understanding of cancer biology has enabled the use of molecular diagnostics to; robustly identify tumour types, stratify treatment groups according to associated outcomes, and develop molecularly targeted therapies or immunotherapies that harnesses the power of the immune system to destroy cancer cells. As this expansion of knowledge and experience continues, treatment of childhood cancer will focus on improving survival rates, reducing short and long-term toxicities and developing more biologically tailored therapies and stratified treatment protocols.
{"title":"Overview of biology and genetics of childhood cancer","authors":"","doi":"10.1093/med/9780198779186.003.0002","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0002","url":null,"abstract":"Cancer is a multistep process that originates in a single cell which develops genetic or epigenetic defects. Typically these aberrations occur in tumour suppressor genes, oncogenes or DNA repair genes, and enable the cell to proliferate uncontrollably. Cancer is a spectrum of diseases, from benign tumours that do not develop distant disease, to more aggressive, malignant tumours that can be locally invasive or metastasise to distant sites via the vascular or lymphatic system. In childhood, cancer is either sporadic, where the cause is unknown, or associated with constitutional abnormalities and cancer pre-disposition syndromes. In recent decades, improved survival rates in childhood cancer has traditionally been associated with refinement of historic therapies and treatment protocols. However a greater understanding of cancer biology has enabled the use of molecular diagnostics to; robustly identify tumour types, stratify treatment groups according to associated outcomes, and develop molecularly targeted therapies or immunotherapies that harnesses the power of the immune system to destroy cancer cells. As this expansion of knowledge and experience continues, treatment of childhood cancer will focus on improving survival rates, reducing short and long-term toxicities and developing more biologically tailored therapies and stratified treatment protocols.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134029552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0016
L. W. Axmaker
A clinical trial is a research study involving human subjects, designed to evaluate the safety and effectiveness of new diagnostic strategies, or (more commonly) new drugs or treatment approaches. This chapter covers the rationale and background to each of the three phases.
{"title":"Clinical trials","authors":"L. W. Axmaker","doi":"10.1093/med/9780198779186.003.0016","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0016","url":null,"abstract":"A clinical trial is a research study involving human subjects, designed to evaluate the safety and effectiveness of new diagnostic strategies, or (more commonly) new drugs or treatment approaches. This chapter covers the rationale and background to each of the three phases.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114255107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/MED/9780199299676.003.05
S. Bailey, R. Skinner
Children and young people with brain tumours present with a variety of symptoms, and should be treated in specialist institutions. The multidisciplinary team approach should be used. The chapter covers treatment algorithms for the investigation and diagnosis of pineal, suprasellar, and atypical tumours; posterior fossa tumours, brain stem and visual pathway tumours, and supratentorial tumours.
{"title":"Initial diagnosis of brain tumours","authors":"S. Bailey, R. Skinner","doi":"10.1093/MED/9780199299676.003.05","DOIUrl":"https://doi.org/10.1093/MED/9780199299676.003.05","url":null,"abstract":"Children and young people with brain tumours present with a variety of symptoms, and should be treated in specialist institutions. The multidisciplinary team approach should be used. The chapter covers treatment algorithms for the investigation and diagnosis of pineal, suprasellar, and atypical tumours; posterior fossa tumours, brain stem and visual pathway tumours, and supratentorial tumours.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122654490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0038
B. Plaat
The diagnosis, treatment and management of both rhabdomyosarcomas and other soft tissue sarcomas are discussed. These includes the value of genetic analysis of the tumours in the diagnosis of these tumours.
{"title":"Soft tissue sarcomas","authors":"B. Plaat","doi":"10.1093/med/9780198779186.003.0038","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0038","url":null,"abstract":"The diagnosis, treatment and management of both rhabdomyosarcomas and other soft tissue sarcomas are discussed. These includes the value of genetic analysis of the tumours in the diagnosis of these tumours.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124692933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780199299676.003.25
S. Bailey, R. Skinner
Cytopenias due to shortened peripheral blood cell survival caused by immune, mechanical, or constitutional damage to blood cells are considered in this chapter, as well as some causes of reduced production due to inflammation or haematinic deficiency. Cytopenias in children with malignant disease are due to replacement of healthy bone marrow by the underlying malignant dis-ease and/or reduced marrow production of haemopoietic cells as a result of the suppressive effects of chemotherapy and/or radiotherapy. Primary bone marrow failure syndromes and hypoplastic/aplastic anaemia are rarer and are considered elsewhere (Bone marrow failure, Chapter 25)
{"title":"Other non-malignant causes of peripheral blood cytopenias","authors":"S. Bailey, R. Skinner","doi":"10.1093/med/9780199299676.003.25","DOIUrl":"https://doi.org/10.1093/med/9780199299676.003.25","url":null,"abstract":"Cytopenias due to shortened peripheral blood cell survival caused by immune, mechanical, or constitutional damage to blood cells are considered in this chapter, as well as some causes of reduced production due to inflammation or haematinic deficiency.\u0000Cytopenias in children with malignant disease are due to replacement of healthy bone marrow by the underlying malignant dis-ease and/or reduced marrow production of haemopoietic cells as a result of the suppressive effects of chemotherapy and/or radiotherapy. Primary bone marrow failure syndromes and hypoplastic/aplastic anaemia are rarer and are considered elsewhere (Bone marrow failure, Chapter 25)","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115188556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0022
There are two categories of inherited haemoglobin disorders due to globin chain gene abnormalities. Sickle cell disorders are due to structurally abnormal haemoglobin molecules whilst the thalassaemia syndromes are caused by impaired haemoglobin A or B chain synthesis. This chapter describes their clinical features, presentations, complications, assessment, laboratory diagnosis and management.
{"title":"Haemoglobinopathies","authors":"","doi":"10.1093/med/9780198779186.003.0022","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0022","url":null,"abstract":"There are two categories of inherited haemoglobin disorders due to globin chain gene abnormalities. Sickle cell disorders are due to structurally abnormal haemoglobin molecules whilst the thalassaemia syndromes are caused by impaired haemoglobin A or B chain synthesis. This chapter describes their clinical features, presentations, complications, assessment, laboratory diagnosis and management.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124201332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1093/med/9780198779186.003.0011
Multimodality treatment is therapy that combines more than one modality of treatment. This is true for most malignant tumours seen in childhood and adolescence. The most established modes of treatment are chemotherapy, radiotherapy, and surgery. This chapter provides a brief rationale for its use.
{"title":"Multimodality treatment","authors":"","doi":"10.1093/med/9780198779186.003.0011","DOIUrl":"https://doi.org/10.1093/med/9780198779186.003.0011","url":null,"abstract":"Multimodality treatment is therapy that combines more than one modality of treatment. This is true for most malignant tumours seen in childhood and adolescence. The most established modes of treatment are chemotherapy, radiotherapy, and surgery. This chapter provides a brief rationale for its use.","PeriodicalId":347115,"journal":{"name":"Paediatric Haemotology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128736643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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