Utility and impact of early t(15;17) identification by Fluorescence In Situ Hybridization (FISH) in clinical decision making for patients in Acute Promyelocytic Leukemia (APL)

Int J Lab Hematol. 2015 Aug;37(4):515-20. doi: 10.1111/ijlh.12326. Epub 2015 Jan 14.

Abstract

Introduction: Acute Promyelocytic Leukemia (APL) is a curable malignancy with studies showing above 90% survival. However, population-based studies looking at survival suggest that approximately 30% of patients with APL die during induction. Early demonstration of t(15;17) will lead to accurate decision making regarding treatment. The aim of this project was to validate earlier time frames for the Abbott Molecular Vysis LSI promyelocytic leukemia (PML)/ retinoic acid receptor alpha (RARA) fluorescence in situ hybridization (FISH) probe (ASR 6-16 h).

Methods: Twenty patients (15 APL cases and five non-APL cases) were selected for validating various hybridization times for the FISH probe. Expected normal signal pattern was two red and two green signals (2R2G), and the most common expected abnormal signal pattern was two fusion (yellow) signals, one red and one green (2F1R1G) and/or one fusion, one red and one green (1F1R1G).

Results: The specificity of the probe ranged from 84% at 2 h, 86% at 4 h, 84% at 6 h, and 87% for overnight hybridization. The sensitivity increased from 79% at 2 h, 80% at 4 h, 81% at 6 h to 87% for overnight hybridization.

Conclusion: Based on the validation studies, we recommend reading of FISH results at the 4-h incubation mark for a preliminary diagnosis and confirmation with overnight hybridization.

Keywords: Acute promyelocytic leukemia; Fluorescence In Situ Hybridization; early diagnosis.

MeSH terms

  • Bone Marrow / metabolism
  • Bone Marrow / pathology
  • Case-Control Studies
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Clinical Decision-Making
  • Early Diagnosis
  • Gene Expression
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Promyelocytic, Acute / diagnosis*
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / pathology
  • Leukocytes, Mononuclear / metabolism
  • Leukocytes, Mononuclear / pathology
  • Lymph Nodes / metabolism
  • Lymph Nodes / pathology
  • Receptors, Retinoic Acid / genetics*
  • Retinoic Acid Receptor alpha
  • Sensitivity and Specificity
  • Time Factors
  • Translocation, Genetic*

Substances

  • RARA protein, human
  • Receptors, Retinoic Acid
  • Retinoic Acid Receptor alpha