Refractory thrombocytopenia and neutropenia: a diagnostic challenge

Mediterranean Journal of Hematology and Infectious Diseases
Emmanuel GyanPierre Fenaux

Abstract

The 2008 WHO classification identified refractory cytopenia with unilineage dysplasia (RCUD) as a composite entity encompassing refractory anemia, refractory thrombocytopenia (RT), and refractory neutropenia (RN), characterized by 10% or more dysplastic cells in the bone marrow respective lineage. The diagnosis of RT and RN is complicated by several factors. Diagnosing RT first requires exclusion of familial thrombocytopenia, chronic auto-immune thrombocytopenia, concomitant medications, viral infections, or hypersplenism. Diagnosis of RN should also be made after ruling out differential diagnoses such as ethnic or familial neutropenia, as well as acquired, drug-induced, infection-related or malignancy-related neutropenia. An accurate quantification of dysplasia should be performed in order to distinguish RT or RN from the provisional entity named idiopathic cytopenia of unknown significance (ICUS). Cytogenetic analysis, and possibly in the future somatic mutation analysis (of genes most frequently mutated in MDS), and flow cytometry analysis aberrant antigen expression on myeloid cells may help in this differential diagnosis. Importantly, we and others found that, while isolated neutropenia and thrombocytopenia are not rare in...Continue Reading

Citations

May 28, 2020·American Journal of Clinical Pathology·Alexa J Siddon, Robert P Hasserjian
Mar 30, 2018·Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer·Jack B FuEduardo Bruera

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Methods Mentioned

BETA
MDS
flow cytometry

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