title: Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.
abstract: OBJECTIVE
  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.
authors.affiliation: From the Departments of Hematopathology and.
authors.forename: Chi Young
authors.initials: CY
authors.lastname: Ok
authors.affiliation: Department of Pathology, St Jude Children's Research Hospital, Memphis, TN.
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Leventaki
authors.affiliation: From the Departments of Hematopathology and.
authors.forename: Sa A
authors.initials: SA
authors.lastname: Wang
authors.affiliation: Leukemia, University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Courtney
authors.initials: C
authors.lastname: Dinardo
authors.affiliation: From the Departments of Hematopathology and.
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.affiliation: From the Departments of Hematopathology and skonople@mdanderson.org.
authors.forename: Sergej
authors.initials: S
authors.lastname: Konoplev
mesh_terms: D001853:Bone Marrow / Q000473:pathology*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D005434:Flow Cytometry; D042381:Granulocyte Precursor Cells / Q000473:pathology; D019337:Hematologic Neoplasms / Q000175:diagnosis* / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA; D063268:Sialic Acid Binding Ig-like Lectin 3 / Q000378:metabolism
chemical_list: C571163:CD33 protein, human; D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human; D063268:Sialic Acid Binding Ig-like Lectin 3
keywords: Familial platelet disorder; Myeloid malignancy; RUNX1