Quantitative evaluation of treatment response to lenalidomide by applying fluorescence in situ hybridization for peripheral blood granulocytes in a patient with 5q- syndrome

J Clin Exp Hematop. 2022 Sep 28;62(3):158-163. doi: 10.3960/jslrt.22001. Epub 2022 Jun 22.

Abstract

The introduction of lenalidomide has significantly improved clinical outcomes in myelodysplastic syndrome (MDS) with isolated interstitial deletion of the long arm of chromosome 5 (del(5q)) (5q- syndrome). These days, MDS with isolated del(5q) includes cases with one additional chromosome abnormality other than monosomy 7 or del(7q), and so we need a better way to monitor tumor cells in each patient than the clinical parameters used to date. An 82-year-old woman with MDS with isolated del(5q) was treated with lenalidomide daily for 21 days in a 4-week cycle. Fluorescence in situ hybridization with CSF1R located at 5q was applied to the peripheral blood samples. Because mature lymphocytes are not involved in the MDS clone, based on the nuclear morphology, polymorphonuclear cells (PMNs) and round-shaped nuclear cells (RSNs) were separately evaluated during treatment. After a single course of treatment, the number of PMNs with del(5q) decreased; by the end of the second course of treatment, both PMNs and RSNs with del(5q) had disappeared. The dynamics of 5q- PMNs is a simple but rapid and reliable indicator to confirm the effect of lenalidomide in MDS with del(5q).

Keywords: 5q– syndrome; chromosomal abnormality; fluorescence in situ hybridization; lenalidomide; myelodysplastic syndrome.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Anemia, Macrocytic
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5* / genetics
  • Cri-du-Chat Syndrome
  • Female
  • Granulocytes / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lenalidomide / therapeutic use
  • Myelodysplastic Syndromes* / drug therapy
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / pathology
  • Thalidomide / therapeutic use
  • Trisomy

Substances

  • Thalidomide
  • Lenalidomide

Supplementary concepts

  • Chromosome 5, trisomy 5q
  • Chromosome 5q Deletion Syndrome