Workup
- There is no single diagnostic parameter specific for MDSHasserjian RP et al. Blood. 2023;142:2247-2257. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Weinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21.
- Therefore, a diagnosis requires a combination of clinical suspicion, laboratory tests, hematologic and morphologic analysis, and cytogenetic and molecular evaluationHasserjian RP et al. Blood. 2023;142:2247-2257. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Weinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21.
Minimal prerequisites
to establish MDS diagnosisWeinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21. National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology: Myelodysplastic Syndromes, 2024. NCCN Foundation; 2024:1-115. Accessed May 3, 2024. https://www.nccn.org/professionals/physician_gls/pdf/mds.pdf. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Myelodysplastic Syndromes V.1.2024. © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed [May 3, 2024]. To view the most recent and complete version of the guideline, go online to NCCN.org.
In addition, the diagnosis of MDS requires ≥ 1 of the following:
≥ 10% morphologic dysplasia (with or without an increase in blast cells) in ≥ 1 of the 3 lineages of hematopoietic cells
A blast cell count of 5%-19%
A specific MDS-associated karyotype, such as del(5q), del(20q), +8, or −7/del(7q)
Spectrum of myeloid
hematopoietic disordersAlvarez-Payares JC et al. Cureus. 2021;13:e19971.
Reproduced with permission from Cureus.Alvarez-Payares JC et al. Cureus. 2021;13:e19971.
CCUS, clonal cytopenia of undetermined significance; CHIP, clonal hematopoiesis of indeterminate potential; nd, not determined; UA, unexplained anemia.
Workup for diagnosing MDSHasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125:S6-S13.
Adapted from Blood and Am J Med.Hasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125:S6-S13.
FISH, fluorescence in situ hybridization; GI, gastrointestinal; ITP, idiopathic thrombocytopenic purpura.
Tests to diagnose MDSHasserjian RP et al. Blood. 2023;142:2247-2257. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Alvarez-Payares JC et al. Cureus. 2021;13:e19971.
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BM, bone marrow; FISH, fluorescence in situ hybridization; HSC, hematopoietic stem cell; LDH, lactate dehydrogenase; RBC, red blood cell; TIBC, total iron-binding capacity.
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Diagnosing MDS requires an extensive series of tests, but it is also important to have a high clinical suspicion to identify risk factors for developing MDS, such as advancing ageHasserjian RP et al. Blood. 2023;142:2247-2257. Sekeres MA. Hematol Oncol Clin North Am. 2010;24:287-294.
