Clinical and pathologic challenges of clonal cytopenia of undetermined significance

Research output: Contribution to journalReview articlepeer-review

Abstract

Unexplained blood cytopenias, in particular anemia, are often found in older individuals. The relationship between these cytopenias and myeloid neoplasms like myelodysplastic syndromes is currently poorly defined. Terminology used to describe patients with unexplained cytopenias and with clonally restricted hematopoiesis can be confusing and is evolving. This review uses a complex clinical case with borderline morphology and somatic mutations with high variant allele frequencies to illustrate a diagnostic approach to clonal cytopenias, and differentiation from myeloid neoplasms with a focus on appropriate ancillary testing. Testing for somatic mutations and variant allele frequency is helpful in assessing risk for progression to myeloid malignancy. The interpretation of mutation profiles in patients with cytopenia has been challenging, as some of these genes are commonly detected in elderly adults showing a normal blood count as well as in individuals with nonmalignant bone marrow failure syndromes. For patients with unexplained cytopenias, longitudinal follow-up including monitoring of blood counts may also be appropriate.

Original languageEnglish (US)
Pages (from-to)82-85
Number of pages4
JournalInternational Journal of Laboratory Hematology
Volume43
Issue numberS1
DOIs
StatePublished - Jul 2021
Externally publishedYes

Keywords

  • clonal cytopenia
  • dysplasia
  • MDS
  • mutations

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint

Dive into the research topics of 'Clinical and pathologic challenges of clonal cytopenia of undetermined significance'. Together they form a unique fingerprint.

Cite this