What tests are recommended for patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), including complete metabolic panel, Human Immunodeficiency Virus (HIV) and Hepatitis C Virus (HCV) testing, vitamin B12 and folate levels, and copper and ceruloplasmin levels?

Recommended Laboratory Testing for MDS and AML

Complete Metabolic Panel

A comprehensive metabolic panel is mandatory for all patients with suspected or confirmed MDS or AML. 1

• The comprehensive metabolic panel provides essential baseline data for risk stratification and treatment planning in AML 1
• For MDS patients, biochemical studies are necessary to exclude reversible causes of cytopenias, including renal function assessment 1
• Serum uric acid and lactate dehydrogenase have prognostic relevance in AML and should be evaluated 1

Vitamin B12 and Folate Testing

Vitamin B12 and red blood cell folate levels are recommended screening tests for all MDS patients and should be checked before diagnosing AML. 1

• These tests are explicitly listed as "useful screening laboratory studies" in the NCCN MDS guidelines 1
• Vitamin B12 deficiency can present as pseudo-thrombotic microangiopathy with pancytopenia, elevated LDH, and schistocytes, mimicking MDS or AML 2
• Vitamin B12 deficiency can mask underlying myelodysplastic or leukemic processes, and supplementation may unmask overt acute myeloid leukemia 3
• Red cell folate levels may be pathologically elevated in MDS patients and inversely correlate with hemoglobin levels 4
• Patients with vitamin B12-responsive pancytopenia can be misdiagnosed as having MDS, but respond rapidly to 7-day parenteral B12 treatment with normalization of blood counts 5

Critical pitfall: Do not overlook vitamin B12 deficiency, as it can present with pancytopenia, elevated LDH, and schistocytes with reticulocytopenia rather than reticulocytosis 2

Copper and Ceruloplasmin Testing

Copper and ceruloplasmin levels should be assessed in certain clinical contexts as part of the initial diagnostic workup for suspected MDS. 1

• The NCCN MDS guidelines specifically state that "assessment of copper and ceruloplasmin levels may be indicated as part of the initial diagnostic workup of suspected MDS" 1
• Copper deficiency can mimic many peripheral blood and marrow findings seen in MDS 1
• Clinical features that should prompt copper testing include: vacuolation of myeloid and/or erythroid precursors, prior gastrointestinal surgery, and a history of vitamin B12 deficiency 1

This testing is not routinely recommended for all patients but should be considered when specific clinical features are present. 1

HIV and HCV Testing

HIV screening is recommended when clinically indicated in MDS patients, but is not part of routine mandatory testing. 1

• The NCCN MDS guidelines state that "HIV screening, if clinically indicated, may also be valuable in some clinical situations" 1
• HIV testing is not mentioned in the AML workup guidelines 1
• HCV testing is not specifically mentioned in either the MDS or AML diagnostic guidelines 1

The decision to test for HIV or HCV should be based on individual risk factors, clinical presentation, and institutional protocols rather than routine screening for all MDS/AML patients. 1

Testing Algorithm

For patients with suspected MDS or AML:

1. Always obtain: Complete metabolic panel, vitamin B12, and folate levels 1
2. Consider copper/ceruloplasmin if: Patient has vacuolated precursors, prior GI surgery, or history of B12 deficiency 1
3. Consider HIV testing if: Clinical risk factors are present or institutional protocols require it 1
4. HCV testing: Not routinely recommended by guidelines; use clinical judgment based on risk factors 1