| 1. |
- Baliakas, Panagiotis, 1977-, et al.
(författare)
-
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
- 2019
-
Ingår i: HemaSphere. - : LIPPINCOTT WILLIAMS & WILKINS. - 2572-9241. ; 3:6
-
Tidskriftsartikel (refereegranskat)abstract
- Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as novel entities in the latest World Health Organization (WHO) classification for MNs. Individuals with MNs due to germline predisposition exhibit increased risk for the development of MNs, mainly acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Setting the diagnosis of MN with germline predisposition is of crucial clinical significance since it may tailor therapy, dictate the selection of donor for allogeneic hematopoietic stem cell transplantation (allo-HSCT), determine the conditioning regimen, enable relevant prophylactic measures and early intervention or contribute to avoid unnecessary or even harmful medication. Finally, it allows for genetic counseling and follow-up of at-risk family members. Identification of these patients in the clinical setting is challenging, as there is no consensus due to lack of evidence regarding the criteria defining the patients who should be tested for these conditions. In addition, even in cases with a strong suspicion of a MN with germline predisposition, no standard diagnostic algorithm is available. We present the first version of the Nordic recommendations for diagnostics, surveillance and management including considerations for allo-HSCT for patients and carriers of a germline mutation predisposing to the development of MNs.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Rodeghiero, Francesco, et al.
(författare)
-
Fundamentals for a Systematic Approach to Mild and Moderate Inherited Bleeding Disorders : An EHA Consensus Report
- 2019
-
Ingår i: HemaSphere. - 2572-9241. ; 3:5
-
Tidskriftsartikel (refereegranskat)abstract
- Healthy subjects frequently report minor bleedings that are frequently 'background noise' of normality rather than a true disorder. Nevertheless, unexpected or unusual bleeding may be alarming. Thus, the distinction between normal and pathologic bleeding is critical. Understanding the underlying pathologic mechanism in patients with an excessive bleeding is essential for their counseling and treatment. Most of these patients with significant bleeding will result affected by non-severe inherited bleeding disorders (BD), collectively denominated mild or moderate BD for their relatively benign course. Unfortunately, practical recommendations for the management of these disorders are still lacking due to the current state of fragmented knowledge of pathophysiology and lack of a systematic diagnostic approach. To address this gap, an International Working Group (IWG) was established by the European Hematology Association (EHA) to develop consensus-based guidelines on these disorders. The IWG agreed that grouping these disorders by their clinical phenotype under the single category of mild-to-moderate bleeding disorders (MBD) reflects current clinical practice and will facilitate a systematic diagnostic approach. Based on standardized and harmonized definitions a conceptual unified framework is proposed to distinguish normal subjects from affected patients. The IWG proposes a provisional comprehensive patient-centered initial diagnostic approach that will result in classification of MBD into distinct clinical-pathological entities under the overarching principle of clinical utility for the individual patient. While we will present here a general overview of the global management of patients with MBD, this conceptual framework will be adopted and validated in the evidence-based, disease-specific guidelines under development by the IWG.
|
|
| 5. |
|
|
| 6. |
- Ungerstedt, J
(författare)
-
Myelodysplastic syndromes
- 2019
-
Ingår i: HemaSphere. - 2572-9241. ; 3:Suppl, s. 131-131
-
Tidskriftsartikel (refereegranskat)
|
|
| 7. |
- Ungerstedt, J
(författare)
-
Myelodysplastic syndromes
- 2019
-
Ingår i: HemaSphere. - 2572-9241. ; 3, s. 131-131
-
Tidskriftsartikel (refereegranskat)
|
|
