Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy. Am J Clin Pathol 2016 Feb;145(2):271-6
Date
01/24/2016Pubmed ID
26800764Pubmed Central ID
PMC4934016DOI
10.1093/ajcp/aqv080Scopus ID
2-s2.0-84959421914 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
OBJECTIVES: To report aberrant myeloblasts detected by flow cytometry immunophenotypic studies in an asymptomatic patient with familial platelet disorder with propensity to myeloid malignancy, a rare autosomal dominant disease caused by germline heterozygous mutations in Runt-related transcription factor 1.
METHODS: Morphologic evaluation, flow cytometry immunophenotypic studies, nanofluidics-based qualitative multiplex reverse transcriptase polymerase chain reaction, Sanger sequencing, and next-generation sequencing-based mutational hotspot analysis of 53 genes were performed on bone marrow biopsy and aspirate samples.
RESULTS: Flow cytometry immunophenotypic analysis showed 0.6% CD34+ blasts with an abnormal immunophenotype: CD13 increased, CD33+, CD38 decreased, CD117 increased, and CD123 increased.
CONCLUSIONS: The acquisition of new phenotypic aberrancies in myeloblasts as detected by flow cytometry immunophenotypic studies might be a harbinger of impending myelodysplastic syndrome or acute myeloid leukemia in a patient with familial platelet disorder with propensity to myeloid malignancy.
Author List
Ok CY, Leventaki V, Wang SA, Dinardo C, Medeiros LJ, Konoplev SMESH terms used to index this publication - Major topics in bold
Bone MarrowCore Binding Factor Alpha 2 Subunit
Cytogenetic Analysis
DNA Mutational Analysis
Flow Cytometry
Granulocyte Precursor Cells
Hematologic Neoplasms
High-Throughput Nucleotide Sequencing
Humans
Immunophenotyping
Leukemia, Myeloid, Acute
Male
Middle Aged
Myelodysplastic Syndromes
Myeloproliferative Disorders
Sequence Analysis, DNA
Sialic Acid Binding Ig-like Lectin 3