Pub Date : 2007-10-01DOI: 10.1111/j.1600-0609.2007.00936.x
Jerry L Spivak
The WHO classification of myeloproliferative disorders (MPDs) encompasses a variety of clinical entities including three, essential thrombocythaemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF), that deserve separate classification because they share in common many features not found in the other disease entities (1). Despite their unique characteristics, distinguishing between ET, PV, and PMF can be clinically challenging because of the overlapping features of these disorders and the absence of disease-specific markers. Although the discovery of the janus kinase 2 (JAK2) V617F mutation was a major breakthrough in this regard as well as with respect to pathogenesis (2–5), our knowledge regarding the molecular basis of the MPDs remains incomplete. The purpose of this article is to discuss the relationship between phenotype and genotype in MPDs, and in particular, the potential importance of the JAK2 V617F mutation and other molecular abnormalities with respect to the diagnosis of these disorders.
{"title":"Phenotype and genotype in the myeloproliferative disorders.","authors":"Jerry L Spivak","doi":"10.1111/j.1600-0609.2007.00936.x","DOIUrl":"https://doi.org/10.1111/j.1600-0609.2007.00936.x","url":null,"abstract":"The WHO classification of myeloproliferative disorders (MPDs) encompasses a variety of clinical entities including three, essential thrombocythaemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF), that deserve separate classification because they share in common many features not found in the other disease entities (1). Despite their unique characteristics, distinguishing between ET, PV, and PMF can be clinically challenging because of the overlapping features of these disorders and the absence of disease-specific markers. Although the discovery of the janus kinase 2 (JAK2) V617F mutation was a major breakthrough in this regard as well as with respect to pathogenesis (2–5), our knowledge regarding the molecular basis of the MPDs remains incomplete. The purpose of this article is to discuss the relationship between phenotype and genotype in MPDs, and in particular, the potential importance of the JAK2 V617F mutation and other molecular abnormalities with respect to the diagnosis of these disorders.","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":" 68","pages":"9-12"},"PeriodicalIF":0.0,"publicationDate":"2007-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1600-0609.2007.00936.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26912739","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 : 2007-10-01DOI: 10.1111/j.1600-0609.2007.00938.x
Guido Finazzi
Polycythaemia vera (PV) is a myeloproliferative disorder (MPD) characterised by clonal proliferation of haematopoietic factors resulting in an increased production of erythrocytes, leucocytes and platelets. The major complications of PV include an increased risk of thrombosis and haemorrhage. Long-term complications also include the development of myelofibrosis and leukaemia. The goals of PV treatment are to prevent thrombosis and bleeding without increasing the likelihood of long-term complications (1). Treatment strategies are based on risk stratification according to the presence of either of two high-risk factors (high risk: age >60 yr or a history of thrombosis) or the absence of these factors (low risk). An intermediate risk applies to patients who have cardiovascular risk factors without any high-risk factors. Current treatment recommendations include the use of phlebotomy (targeting haematocrit <45%) and low-dose aspirin for all patients (1). Cytoreductive therapy (e.g. hydroxyurea) is used only in high-risk patients due to the risk of drug-related side effects and potential leukaemic transformation (1). Although much has been achieved in the diagnosis and treatment of PV, several questions remain unanswered. These include uncertainty regarding: (i) the potential impact of the recently discovered janus kinase 2 (JAK2) mutation on PV diagnosis, (ii) the potential need to revise treatment algorithms in light of novel risk factors for thrombosis and (iii) the optimal targets of therapy for PV. This article will discuss these questions and possible directions for future research.
{"title":"Unanswered questions in polycythaemia vera.","authors":"Guido Finazzi","doi":"10.1111/j.1600-0609.2007.00938.x","DOIUrl":"https://doi.org/10.1111/j.1600-0609.2007.00938.x","url":null,"abstract":"Polycythaemia vera (PV) is a myeloproliferative disorder (MPD) characterised by clonal proliferation of haematopoietic factors resulting in an increased production of erythrocytes, leucocytes and platelets. The major complications of PV include an increased risk of thrombosis and haemorrhage. Long-term complications also include the development of myelofibrosis and leukaemia. The goals of PV treatment are to prevent thrombosis and bleeding without increasing the likelihood of long-term complications (1). Treatment strategies are based on risk stratification according to the presence of either of two high-risk factors (high risk: age >60 yr or a history of thrombosis) or the absence of these factors (low risk). An intermediate risk applies to patients who have cardiovascular risk factors without any high-risk factors. Current treatment recommendations include the use of phlebotomy (targeting haematocrit <45%) and low-dose aspirin for all patients (1). Cytoreductive therapy (e.g. hydroxyurea) is used only in high-risk patients due to the risk of drug-related side effects and potential leukaemic transformation (1). Although much has been achieved in the diagnosis and treatment of PV, several questions remain unanswered. These include uncertainty regarding: (i) the potential impact of the recently discovered janus kinase 2 (JAK2) mutation on PV diagnosis, (ii) the potential need to revise treatment algorithms in light of novel risk factors for thrombosis and (iii) the optimal targets of therapy for PV. This article will discuss these questions and possible directions for future research.","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":" 68","pages":"18-21"},"PeriodicalIF":0.0,"publicationDate":"2007-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1600-0609.2007.00938.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26912741","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 : 2007-10-01DOI: 10.1111/j.1600-0609.2007.00934.x
Radek Skoda
Myeloproliferative disorders (MPDs) comprise a group of bone marrow diseases, characterised by abnormal or excessive cell production. The four original classifications of MPD include chronic myeloid leukaemia (CML), polycythaemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF). Among these disorders, CML can now be differentiated by the presence of the Philadelphia (Ph)-positive abnormality and its specific molecular marker (disrupted protein kinase breakpoint cluster region ⁄Abelson murine leukaemia (BCR ⁄ABL)). Knowledge of the molecular basis of the Ph-negative MPDs (PV, ET and PMF) has until recently been very limited. However, this has recently changed following the discovery of the janus kinase 2 (JAK2 V617F) mutation in a significant proportion of patients with Ph-negative MPDs (1–4). In this article, the key developments in molecular understanding of the MPDs will be reviewed.
{"title":"Advances in the understanding and management of myeloproliferative disorders.","authors":"Radek Skoda","doi":"10.1111/j.1600-0609.2007.00934.x","DOIUrl":"https://doi.org/10.1111/j.1600-0609.2007.00934.x","url":null,"abstract":"Myeloproliferative disorders (MPDs) comprise a group of bone marrow diseases, characterised by abnormal or excessive cell production. The four original classifications of MPD include chronic myeloid leukaemia (CML), polycythaemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF). Among these disorders, CML can now be differentiated by the presence of the Philadelphia (Ph)-positive abnormality and its specific molecular marker (disrupted protein kinase breakpoint cluster region ⁄Abelson murine leukaemia (BCR ⁄ABL)). Knowledge of the molecular basis of the Ph-negative MPDs (PV, ET and PMF) has until recently been very limited. However, this has recently changed following the discovery of the janus kinase 2 (JAK2 V617F) mutation in a significant proportion of patients with Ph-negative MPDs (1–4). In this article, the key developments in molecular understanding of the MPDs will be reviewed.","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":" 68","pages":"2-4"},"PeriodicalIF":0.0,"publicationDate":"2007-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1600-0609.2007.00934.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26912737","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}
{"title":"Proceedings of the Sixth International Symposium on Hodgkin's Disease. September 19-21, 2004. Cologne, Germany.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":" 66","pages":"1-165"},"PeriodicalIF":0.0,"publicationDate":"2005-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25265509","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}
{"title":"Abstracts for the 6th International Symposium on Hodgkin's Lymphoma. Cologne, Germany, 18-21 September 2004.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":"65 ","pages":"1-81"},"PeriodicalIF":0.0,"publicationDate":"2004-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40914626","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}
This study is based on 2163 patients with severe aplastic anaemia from the European Bone Marrow Transplantation Working Party Registry on Severe Aplastic Anaemia. It was designed to define patients' characteristics according to different aetiology and to assess the impact of aetiology of the aplasia on treatment outcome. Significant differences were found in age, sex, disease severity and DR typing between idiopathic, post-hepatitis and drug-associated severe aplastic anaemia. These differences did not affect the overall outcome of patients treated with bone marrow transplantation (BMT) or immunosuppression (IS) therapy.
{"title":"Aetiology of severe aplastic anaemia and outcome after allogeneic bone marrow transplantation or immunosuppression therapy. Working Party on Severe Aplastic Anaemia of the European Blood and Marrow Transplantation Group.","authors":"A Bacigalupo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This study is based on 2163 patients with severe aplastic anaemia from the European Bone Marrow Transplantation Working Party Registry on Severe Aplastic Anaemia. It was designed to define patients' characteristics according to different aetiology and to assess the impact of aetiology of the aplasia on treatment outcome. Significant differences were found in age, sex, disease severity and DR typing between idiopathic, post-hepatitis and drug-associated severe aplastic anaemia. These differences did not affect the overall outcome of patients treated with bone marrow transplantation (BMT) or immunosuppression (IS) therapy.</p>","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":"60 ","pages":"16-9"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19949395","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}
{"title":"Intensive chemotherapy and bone marrow transplantation: the challenge of fungal infections. Introduction.","authors":"D C Linch","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":11926,"journal":{"name":"European journal of haematology. Supplementum","volume":"57 ","pages":"5-6"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19679942","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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