Application of Fluorescence In Situ Hybridization on Cerebrospinal Fluid Cytospins for the Detection of Residual Leukemic Cells in Patients With Childhood Acute Lymphoblastic Leukemia

Am J Clin Pathol. 2019 Mar 1;151(4):416-423. doi: 10.1093/ajcp/aqy160.

Abstract

Objectives: Diagnosis of central nervous system involvement in acute lymphoblastic leukemia (ALL) requires morphologic expertise; therefore, we evaluated interphase fluorescence in situ hybridization (iFISH) of cerebrospinal fluid (CSF) cytospin preparations as a potential complementary test.

Methods: Twenty-three CSF cytospin specimens from 13 pediatric patients with ALL were included. iFISH probes detecting BCR-ABL1, ETV6-RUNX1, and KMT2A rearrangement and CDKN2A deletion, which were present at initial diagnosis, were used on follow-up CSF cytospin specimens and were compared with cytology.

Results: Seventeen (73.9%) follow-up specimens showed concordant results between iFISH and cytology. Two (8.7%) samples with discordant results were positive by iFISH but not by cytology; one (4.3%) was positive only by cytology. In the remaining three (13.0%) specimens, too few cells were available for cytology, whereas iFISH interpretation was possible.

Conclusions: iFISH of CSF cytospin preparations improves malignant cell detection in pediatric ALL.

Keywords: Acute lymphoblastic leukemia; Cerebrospinal fluid; Cytospin; Fluorescence in situ hybridization.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cytogenetic Analysis
  • Female
  • Follow-Up Studies
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / cerebrospinal fluid
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology