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Myelodysplastic syndromes (MDSs) are heterogeneous blood cancers characterized by ineffective hematopoiesis, cytopenia(s), and dysplasia(s). 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Quick Answers for Clinicians
Myelodysplastic syndromes (MDSs) may present similarly to other conditions associated with cytopenias, dysplasias, or clonality. Dysplasia or cytopenia may be induced by nutritional deficiencies (eg, of vitamin B12, folate, or copper), toxins (eg, arsenic, lead, zinc, or alcohol), drugs (eg, chemotherapeutic agents), infections (eg, HIV), congenital disorders (eg, congenital dyserythropoietic anemia), paroxysmal nocturnal hemoglobinuria (PNH), chronic inflammation (eg, VEXAS syndrome), and anemias secondary to another etiology (eg, sideroblastic anemia, aplastic anemia). These conditions can be distinguished from MDSs using a combination of morphologic findings, clinical presentation, detailed history, and laboratory testing, including cytogenetics and molecular testing.
Clonal disorders that must be distinguished from MDSs include clonal hematopoiesis of indeterminate potential (CHIP) and acute myeloid leukemia (AML). CHIP will exhibit somatic mutations associated with hematologic malignancy but will not meet the diagnostic criteria for MDSs or other disorders. AML can be distinguished from MDSs by the percentage of blasts and/or the presence of characteristic cytogenetic and molecular features associated with AML. For more information, refer to the ARUP Consult Acute Myeloid Leukemia topic.
Finally, an MDS in the presence of prominent myeloproliferative features (eg, thrombocytosis, megakaryocytic proliferation, or leukocytosis) is more appropriately characterized as a myelodysplastic/myeloproliferative neoplasm (MDS/MPN).
The minimal diagnostic criteria for a myelodysplastic syndromes (MDSs) vary by organization. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228.
Most myelodysplastic syndromes (MDSs) occur in adults. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
There may also be differences between adult and pediatric testing for specific hereditary syndromes; for example, serum trypsinogen is tested in the evaluation of suspected Shwachman-Diamond syndrome in children, but not in adults. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Human leukocyte antigen (HLA) typing is recommended for individuals with myelodysplastic syndromes (MDSs) or myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) for whom hematopoietic stem cell transplantation is being considered. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
The role of minimal residual disease (MRD) has not been established in myelodysplastic syndromes (MDSs); however, it is an area of current research. 5 Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061. Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061. Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061.
Indications for Testing
MDS should be suspected in individuals with persistent cytopenia(s) (values lower than standard values based on age, sex, ethnicity, and altitude of patient residence) on sequential CBCs that cannot otherwise be explained and/or other morphologic changes consistent with myelodysplasia. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Criteria for Diagnosis and Classification
The diagnosis and classification of MDSs, also referred to as myelodysplastic neoplasms, are based on the results of bone marrow examination, peripheral blood examination, cytogenetic testing, and molecular genetic tests. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Response Criteria
The therapeutic response criteria for MDSs are based on the results of bone marrow examination (including blast enumeration), peripheral blood counts, and cytogenetic testing, among other factors. 5 Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061. Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061.
Laboratory Testing
Initial Workup
In addition to a history and physical examination with particular attention to cytopenias, recommended laboratory testing in the initial workup of suspected MDS includes a CBC with differential, platelet count, and reticulocyte count; peripheral smear with at least 200 cells; red blood cell (RBC) folate and serum B12 tests; serum ferritin, iron, and total iron-binding capacity or transferrin saturation tests; and thyroid-stimulating hormone, haptoglobin, creatinine, and lactate dehydrogenase tests. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
Additional Tests
Consider testing for copper deficiency in individuals who have malabsorption or malnutrition, have had gastric bypass surgery, or are taking zinc supplements. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
Bone Marrow Aspirate and Biopsy
Bone marrow aspiration with iron staining and biopsy are recommended at diagnosis. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
In some cases, MDSs can be morphologically defined. Morphologic factors considered in the classification of MDSs include 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228.
- Bone marrow blast percentage
- Hypoplasia
- Auer rods
- Fibrosis
- Ring sideroblasts
Bone marrow aspiration also provides material for cytogenetic and molecular testing. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Testing for Cytogenetic Abnormalities
Cytogenetic testing is recommended as part of the evaluation of suspected MDSs and is used to classify MDSs and identify abnormalities relevant to prognosis and therapeutic decision-making. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
Somatic gene rearrangements/abnormalities that define MDSs and/or are important in prognosis and therapeutic decision-making include 17p, complex karyotype, del(5q), del(7q), and monosomy 7. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228.
Polymerase chain reaction (PCR) testing for TCR and testing for STAT3 mutations may, in conjunction with flow cytometry, be useful to evaluate for large granular lymphocytes (LGLs) and PNH, which are usually considered morphologic MDS mimics. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Molecular Genetic Testing for Other Somatic Variants
Molecular genetic testing for somatic variants (also referred to as acquired mutations) in genes associated with MDSs is recommended and may aid in diagnosis and prognostication. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Somatic gene mutations that define MDSs include but are not limited to SF3B1 and TP53. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Other genes with somatic variants associated with MDSs include ASXL1, CBL, DNMT3A, ETV6, EZH2, IDH1, IDH2, JAK2, KRAS, NRAS, RUNX1, SETBP1, SRSF2, STAG2, TET2, U2AF1, and ZRSR2. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
Immunophenotyping by Flow Cytometry
Flow cytometry may be considered in the evaluation of suspected MDS, although it is not a substitute for morphologic evaluation to determine blast percentage. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Hereditary Syndrome Assessment
Genetic testing for hereditary hematologic malignancy predisposition, including bone marrow failure syndromes such as Diamond-Blackfan anemia and Shwachman-Diamond syndrome, may be informative, particularly in individuals who are diagnosed with an MDS before 50 years of age or in families with multiple cases of MDSs, AML, or related conditions. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Cultured skin fibroblasts are the recommended specimen type for germline testing because blood contamination may lead to the detection of somatic variants. Furthermore, mosaicism and somatic reversion in blood or bone marrow in patients with germline variants may yield false-negative results. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Panel testing should be considered, including both NGS and genomic array, to detect mutations and copy number variants. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Genes with variants associated with hereditary MDSs include ACD, ANKRD26, CTC1, DDX41, DKC1, DNAJC21, EFL1, ELANE, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1/BACH1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANQ/ERCC4, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7/MAD2L2GATA1, G6PC3, GATA2, GFI1, HAX1, NAF1, NHP2, NOP10, PARN, POT1, RPL5, RPL11, RPL15, RPL23, RPL26, RPL27, RPL31, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SRP72, TERC, TERT, TINF2, TSR2, WRAP53, and ZCCHC8. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
Prognosis and Risk Assessment
Results from the CBC, blast enumeration, and cytogenetic and molecular testing may be used in prognosis. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061.
Treatment Planning and Monitoring
Treatment Planning
Cytomegalovirus testing and human leukocyte antigen (HLA) typing should be performed in both the patient and potential donors if the patient is a candidate for hematopoietic stem cell transplantation. 1 National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
Monitoring
Regular blood counts should be performed for routine follow-up. 3 Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
ARUP Laboratory Tests
Giemsa Band/Genomic Microarray (Oligo-SNP array)
Giemsa Band/Genomic Microarray (Oligo-SNP array)
Giemsa Band
Giemsa Band
Genomic Microarray (Oligo-SNP Array)
Fluorescence in situ Hybridization (FISH)
Massively Parallel Sequencing
Massively Parallel Sequencing
Massively Parallel Sequencing
Massively Parallel Sequencing
References
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NCCN - myelodysplastic syndromes v2.2024
National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: myelodysplastic syndromes. Version 2.2024. Updated May 2024; accessed Jun 2024.
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35732831
Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719.
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33221366
Fenaux P, Haase D, Santini V, et al. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(2):142-156.
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35767897
Arber DA, Orazi A, Hasserjian RP, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200-1228.
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36724453
Zeidan AM, Platzbecker U, Bewersdorf JP, et al. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood. 2023;141(17):2047-2061.