The utility of flow cytometric immunophenotyping in cytopenic patients with a non-diagnostic bone marrow: a prospective study
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Updated: Jun 25, 2026
Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation
Published on: November 3, 2018
Francoise Truong1, Brian R Smith, Dariusz Stachurski
1Department of Pathology, UMass Memorial Medical Center, University of Massachusetts School of Medicine, Worcester, MA, USA.
Insights
Flow cytometry (FCM) aids in diagnosing myelodysplastic syndromes (MDS) when bone marrow exams are inconclusive. This FCM assay shows high accuracy in identifying MDS and related diseases in cytopenic patients.
Area of Science:
- Hematology
- Clinical Pathology
- Flow Cytometry
Background:
- Cytopenias are common in hematology clinics and hospitals.
- Bone marrow examination is crucial for diagnosing intrinsic bone marrow disorders like myelodysplastic syndrome (MDS).
- Traditional diagnostic methods include morphology and cytogenetics, but results can be inconclusive.
Purpose of the Study:
- To prospectively evaluate the diagnostic utility of a previously described flow cytometric (FCM) assay.
- To assess the FCM assay's performance in cytopenic patients with inconclusive bone marrow findings.
- To determine if FCM can aid in the clinical management of these patients.
Main Methods:
- A prospective study involving 102 cytopenic patients with inconclusive bone marrow aspirates and biopsies.
- Application of a validated FCM assay for myelomonocytic maturation analysis.
- Follow-up of patients for a median of 11 months to ascertain diagnoses.
Main Results:
- The FCM assay was positive in 21.6%, intermediate in 10.8%, and negative in 67.6% of patients.
- Of 12 patients who developed MDS or related diseases, 75% had a positive FCM result.
- Of 61 patients with cytopenias from other causes, 93% had a negative FCM result (95% negative predictive value).
Conclusions:
- Flow cytometry analysis of myelomonocytic maturation is diagnostically useful in cytopenic patients with inconclusive bone marrow examinations.
- FCM serves as a valuable adjunct to morphology and cytogenetics in diagnosing MDS and related disorders.
- The FCM assay demonstrates high negative predictive value, effectively ruling out MDS in many cases.
Abstract:
Cytopenia is a common problem in hematology outpatient clinics and among hospitalized patients. A bone marrow (BM) aspirate and biopsy are often performed to rule out an infiltrative versus intrinsic BM process, such as myelodysplastic syndrome (MDS). We have previously described a flow cytometric (FCM) assay useful in diagnosing MDS and demonstrated its good correlation with "gold standard" morphologic and cytogenetic criteria. In this study, we prospectively tested the utility of the FCM assay in 102 cytopenic patients with BMs showing neither diagnostic morphological dysplasia nor abnormal cytogenetics. FCM, following our published criteria, was positive in 22 cases (21.6%), intermediate in 11 cases (10.8%) and negative in 69 cases (67.6%). With a median follow-up period of 11 months (range, 4-24 months), 12 (11.8%) patients were proven to have or/develop MDS or related BM diseases (group-1); 61 (59.8%) patients had their cytopenia(s) attributed to various medical causes (group-2). In the remaining 29 patients, the causes of cytopenia(s) were not found, and some had the features consistent with the recently defined clinical entity -- idiopathic cytopenia of uncertain significance. A positive FCM result was significantly more prevalent (9/12, 75%) in group-1 patients; while a negative FCM result was significantly more frequent in group-2 patients (4/61, 7%) (p<0.0001) with a positive predictive value of 69% and a negative predictive value of 95%. We conclude that FCM analysis of myelomonocytic maturation has diagnostic utility in cytopenic patients who have an inconclusive BM examination by morphologic and cytogenetic evaluation, and may therefore be a useful adjunct in clinical management of these patients.
