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SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
- Source :
- Malcovati, L, Stevenson, K, Papaemmanuil, E, Neuberg, D, Bejar, R, Boultwood, J, Bowen, D T, Campbell, P J, Ebert, B L, Fenaux, P, Haferlach, T, Heuser, M, Jansen, J H, Komrokji, R S, MacIejewski, J P, Walter, M J, Fontenay, M, Garcia-Manero, G, Graubert, T A, Karsan, A, Meggendorfer, M, Pellagatti, A, Sallman, D A, Savona, M R, Sekeres, M A, Steensma, D P, Tauro, S, Thol, F, Vyas, P, Loosdrecht, A A V D, Haase, D, Tüchler, H, Greenberg, P L, Ogawa, S, Hellstrom-Lindberg, E & Cazzola, M 2020, ' SF3B1-mutant MDS as a distinct disease subtype : A proposal from the International Working Group for the Prognosis of MDS ', Blood, vol. 136, no. 2, pp. 157-170 . https://doi.org/10.1182/BLOOD.2020004850, Blood, 136, 157-170, Blood, 136, 2, pp. 157-170, Blood, Blood, 136(2), 157-170. American Society of Hematology
- Publication Year :
- 2020
- Publisher :
- American Society of Hematology, 2020.
-
Abstract
- The 2016 revision of the World Health Organization classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics. Notwithstanding, the myelodysplastic syndrome (MDS) with isolated del(5q) remains so far the only MDS subtype defined by a genetic abnormality. Approximately half of MDS patients carry somatic mutations in spliceosome genes, with SF3B1 being the most commonly mutated one. SF3B1 mutation identifies a condition characterized by ring sideroblasts (RS), ineffective erythropoiesis, and indolent clinical course. A large body of evidence supports recognition of SF3B1-mutant MDS as a distinct nosologic entity. To further validate this notion, we interrogated the data set of the International Working Group for the Prognosis of MDS (IWG-PM). Based on the findings of our analyses, we propose the following diagnostic criteria for SF3B1-mutant MDS: (1) cytopenia as defined by standard hematologic values, (2) somatic SF3B1 mutation, (3) morphologic dysplasia (with or without RS), and (4) bone marrow blasts
- Subjects :
- Ineffective erythropoiesis
Oncology
medicine.medical_specialty
Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]
Immunology
Plenary Paper
medicine.disease_cause
Biochemistry
03 medical and health sciences
0302 clinical medicine
All institutes and research themes of the Radboud University Medical Center
Internal medicine
Molecular genetics
hemic and lymphatic diseases
medicine
Humans
030304 developmental biology
0303 health sciences
Cytopenia
business.industry
Leukemia, Myelomonocytic, Chronic
Cell Biology
Hematology
medicine.disease
Phosphoproteins
Prognosis
3. Good health
Leukemia, Myeloid, Acute
medicine.anatomical_structure
Dysplasia
030220 oncology & carcinogenesis
Concomitant
Mutation (genetic algorithm)
Erythropoiesis
Bone marrow
RNA Splicing Factors
business
Subjects
Details
- Language :
- English
- ISSN :
- 00064971
- Database :
- OpenAIRE
- Journal :
- Malcovati, L, Stevenson, K, Papaemmanuil, E, Neuberg, D, Bejar, R, Boultwood, J, Bowen, D T, Campbell, P J, Ebert, B L, Fenaux, P, Haferlach, T, Heuser, M, Jansen, J H, Komrokji, R S, MacIejewski, J P, Walter, M J, Fontenay, M, Garcia-Manero, G, Graubert, T A, Karsan, A, Meggendorfer, M, Pellagatti, A, Sallman, D A, Savona, M R, Sekeres, M A, Steensma, D P, Tauro, S, Thol, F, Vyas, P, Loosdrecht, A A V D, Haase, D, Tüchler, H, Greenberg, P L, Ogawa, S, Hellstrom-Lindberg, E & Cazzola, M 2020, ' SF3B1-mutant MDS as a distinct disease subtype : A proposal from the International Working Group for the Prognosis of MDS ', Blood, vol. 136, no. 2, pp. 157-170 . https://doi.org/10.1182/BLOOD.2020004850, Blood, 136, 157-170, Blood, 136, 2, pp. 157-170, Blood, Blood, 136(2), 157-170. American Society of Hematology
- Accession number :
- edsair.doi.dedup.....08b670dc89782910ba5f874be50fc17a