Workup

Before fully evaluating a patient for suspected myelodysplastic syndromes (MDS), a general anemia workup is required.Hasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.

  • A CBC with indices and a blood smear are needed to identify the presence of anemiaHasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.
  • Once anemia is confirmed, additional testing (such as for MDS detailed below) is needed to ascertain a cause and potential further diagnosisHasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.

Diagnosing requires a complex and multifaceted evaluation.Hasserjian RP et al. Blood. 2023;142:2247-2257. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181.

  • 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. Foran JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Weinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21.
Approximately 1-in-6 patients with unexplained anemia has findings compatible with MDS (Reference: Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181.)

Figure referenceForan JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.

  • MDS can be difficult to diagnose due to the resemblance to other hematologic disorders with similar signs and symptomsSteensma DP. Blood. 2018;132:1657-1663.
  • MDS should be suspected in elderly patients with isolated, unexplained anemiaForan JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.

Unmet needs in MDS workup and diagnosis

Several factors contribute to the lack of recognition of MDS as a malignancy, and to underdiagnosis.

Incidental findingWeinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21.

Patients with MDS may be clinically asymptomatic for years, and cytopenias are often detected incidentally on routine labs for other reasons.

Overlooked as part of agingScott B. Am J Med. 2012; 125(suppl):S33-S34.

Anemia is common among older patients and may be overlooked as a normal consequence 
of aging.

Non-specific symptomatologyWeinberg OK, Hasserjian RP. Semin Hematol. 2019;56:15-21.

Typical presenting symptoms are non-specific, and clinical features overlap with other malignant and non-malignant entities.

Evolving nature of MDSGerming U et al. Exp Rev Hematol. 12(10):893-908.

Genomic instability favors clonal evolution, making it difficult to attribute disease to a single therapeutic target.

Requires specialized testsGlauser TA et al. Leuk Resl 2013;37:1656-1661.

Definitive diagnosis of MDS often requires specialized tests, such as bone marrow biopsy, cytogenetic analysis, and molecular testing, which may not be accessible in some settings or not routinely ordered, leading to inconclusive results.

Evolving guidelinesZeidan AM et al. Blood Rev. 2019;34:1-15. Cogle CR. Curr Hematol Malig Rep. 2015;10:272-281.

Evolving classification systems and changing guidelines for the coding of MDS cases complicate the reporting of MDS to cancer registries.

Criteria, algorithm, and tests for
diagnosing MDS

To learn more, view the tabs below. Each tab contains helpful information.

Minimal prerequisites to establish MDS diagnosisBarone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Khoury JD et al. Leukemia. 2022;36(7):1703-1719.

Greater or less than one unexplained cytopenia (check) plus Exclusion of other potential disorders as the primary reason for dysplasia/cytopenia (check) In addition, the diagnosis of MDS requires one or more of the following: greater or equal to 10% morphologic dysplasia (with or without an increase in blast cells) in greater or equal to one of the three lineages of hematopoietic cells or a blast cell count of 5-19% or a specific MDS associated karyotype, such as del(5q), del(20q), plus eight, or minux seven del(7q).

Spectrum of myeloid hematopoietic disordersAlvarez-Payares JC et al. Cureus. 2021;13:e19971.

A table showing Cytopenia positive under UA, CCUS, and MDS. Dysplasia positive under MDS. Cytogenetic abnormalities positive under MDS. And somatic mutations postive under CHIP, CCUS, and MDS.

Reproduced with permission from Cureus.Steensma DP. Blood. 2018;132:1657-1663.

CCUS, clonal cytopenia of undetermined significance; CHIP, clonal hematopoiesis of indeterminate potential; nd, not determined; UA, unexplained anemia.

Tests to diagnose MDSHasserjian RP et al. Blood. 2023;142:2247-2257. Barone P, Patel S. Semin Diagn Pathol. 2023;40:172-181. Khoury JD et al. Leukemia. 2022;36(7):1703-1719.

BM, bone marrow; FISH, fluorescence in situ hybridization; HSC, hematopoietic stem cell; LDH, lactate dehydrogenase; RBC, red blood cell; TIBC, total iron-binding capacity.

Workup for diagnosing MDSHasserjian RP et al. Blood. 2023;142:2247-2257. Foran JM, Shammo JM. Am J Med. 2012;125(7 Suppl):S6-13.

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(7 Suppl):S6-13.

FISH, fluorescence in situ hybridization; GI, gastrointestinal; ITP, idiopathic thrombocytopenic purpura.

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