Pattern associated leukemia immunophenotypes and measurable disease detection in acute myeloid leukemia or myelodysplastic syndrome with mutated NPM1

Background The presence of measurable residual disease after therapy is a significant risk factor of relapse in patients with acute myeloid leukemia (AML). By detecting cells with leukemia‐associated immunophenotype (LAIP), multiparameter flow cytometry (MFC) can detect residual leukemia at a level...

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Bibliographic Details
Published in:Cytometry. Part B, Clinical cytometry Clinical cytometry, 2019-01, Vol.96 (1), p.67-72
Main Authors: Zhou, Yi, Moon, Andres, Hoyle, Eric, Fromm, Jonathan R., Chen, Xueyan, Soma, Lori, Salipante, Stephen J., Wood, Brent L., Wu, David
Format: Article
Language:English
Subjects:
Acute myeloid leukemia
Adult
Aged
Aged, 80 and over
AML
Blast Crisis - pathology
Diagnosis
Disease detection
Disease-Free Survival
Female
Flow Cytometry
Health risks
Humans
Immunophenotyping
Leukemia
Leukemia, Myeloid, Acute - diagnosis
Leukemia, Myeloid, Acute - pathology
Leukocytes
Male
MDS
Middle Aged
Morphology
Mutation - genetics
Myelodysplastic syndrome
Myelodysplastic Syndromes - diagnosis
Myelodysplastic Syndromes - pathology
Myeloid leukemia
Neoplasm Recurrence, Local - pathology
Neoplasm, Residual - diagnosis
NGS
NPM1
Nuclear Proteins - genetics
Patients
Remission
Risk analysis
Risk factors
Therapy
Treatment Outcome
Young Adult
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Summary:Background The presence of measurable residual disease after therapy is a significant risk factor of relapse in patients with acute myeloid leukemia (AML). By detecting cells with leukemia‐associated immunophenotype (LAIP), multiparameter flow cytometry (MFC) can detect residual leukemia at a level significantly lower than that detected by morphology. However, changes in LAIPs during or after therapy may pose a challenge to MRD testing. AML with mutated NPM1 represents the largest subtype of AML sharing a common leukemogenic mechanism and similar LAIPs. Here, we identified a common pattern of LAIPs in myeloid blasts with mutated NPM1, and studied its stability and limit of detection after therapy. Methods We summarized aberrancies of leukemic blasts with mutated NPM1 at diagnosis in 61 patients and paired relapse in 25 patients. In addition, we examined the detection of leukemic blasts in 590 specimens collected from 152 patients in complete remission after induction for AML/MDS‐EB with mutated NPM1. Results Our findings demonstrate myeloid blasts with mutated NPM1 have a characteristic pattern of LAIPs that is present in nearly all cases of AML/MDS‐EB with mutated NPM1 at initial diagnosis and relapse, regardless of morphologic variations, FLT3 ITD status, or karyotype abnormality. The myeloid blasts with mutated NPM1 can be detected at an approximate level of 0.1% of total leukocytes in morphologic remission with high specificity validated by clinical outcome. Conclusion The characteristic pattern of LAIPs of myeloid blasts with mutated NPM1 is common and stable, and allows sensitive and specific detection of AML or MDS with mutated NPM1 after therapy. © 2018 International Clinical Cytometry Society
ISSN:1552-4949
1552-4957
DOI:10.1002/cyto.b.21744