American journal of clinical pathology · 2016
Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.
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Ok Chi Young, Leventaki Vasiliki, Wang Sa A, Dinardo Courtney, Medeiros L Jeffrey, Konoplev Sergej
Аннотация
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.
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.
Предметные рубрики MeSH
Bone MarrowCore Binding Factor Alpha 2 SubunitCytogenetic AnalysisDNA Mutational AnalysisFlow CytometryGranulocyte Precursor CellsHematologic NeoplasmsHigh-Throughput Nucleotide SequencingHumansImmunophenotypingLeukemia, Myeloid, AcuteMaleMiddle AgedMyelodysplastic SyndromesMyeloproliferative DisordersSequence Analysis, DNASialic Acid Binding Ig-like Lectin 3