Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy

American Journal of Clinical Pathology
Chi Young OkSergej Konoplev

Abstract

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. 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. Flow cytometry immunophenotypic analysis showed 0.6% CD34+ blasts with an abnormal immunophenotype: CD13 increased, CD33+, CD38 decreased, CD117 increased, and CD123 increased. 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.

References

Nov 28, 2001·International Journal of Hematology·M OsatoY Ito
Nov 11, 2003·Human Pathology·Joseph D KhouryL Jeffrey Medeiros
May 15, 2008·European Journal of Human Genetics : EJHG·Mylène Béri-DexheimerPhilippe Jonveaux
Jun 16, 2010·International Journal of Hematology·Nahoko NishimotoMineo Kurokawa
May 25, 2011·Haematologica·Elena Liew, Carolyn Owen

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Citations

Feb 10, 2017·Blood·Raman SoodPaul Liu
Jan 3, 2019·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Karen M ChisholmAkiko Shimamura
Sep 6, 2018·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Chi Young OkSergej Konoplev

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