Abstract
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.
Original language | English (US) |
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Pages (from-to) | 271-276 |
Number of pages | 6 |
Journal | American journal of clinical pathology |
Volume | 145 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1 2016 |
Keywords
- Familial platelet disorder
- Myeloid malignancy
- RUNX1
ASJC Scopus subject areas
- Pathology and Forensic Medicine