Clinical significance of newly emerged isolated del(20q) in patients following cytotoxic therapies

Mod Pathol. 2015 Aug;28(8):1014-22. doi: 10.1038/modpathol.2015.66. Epub 2015 Jun 5.

Abstract

Deletion 20q is a common chromosomal abnormality in myeloid neoplasms. Detection of del(20q) in patients following cytotoxic therapies raises concerns for an emerging therapy-related myeloid neoplasm. In this study, we identified 92 patients who acquired isolated del(20q) in their bone marrow following cytotoxic therapies for malignant neoplasms. Seventy-six patients showed interstitial and sixteen patients showed terminal 20q deletion. The median interval from prior cytotoxic therapies to detection of del(20q) was 58 months (range, 5-213 months). With a median follow-up of 23 months (range, 1-183 months), 21 (23%) patients developed therapy-related myeloid neoplasm and 71 (77%) patients did not. In patients who developed therapy-related myeloid neoplasm, del(20q) presented in a higher percentage of metaphases (60 vs 25%, P<0.0001); persisted for a longer period of time (24 vs 10 months, P=0.0487); and was more often a terminal deletion (33 vs 13%, P=0.0006) compared with patients who did not develop therapy-related myeloid neoplasm. Clonal evolution was only detected in patients with therapy-related myeloid neoplasm (4 patients, 19%). We conclude that del(20q) emerging after cytotoxic therapy represents an innocuous finding in more than two-thirds of patients. In patients who develop a therapy-related myeloid neoplasm, del(20q) often involves a higher percentage of metaphases, persists longer and more frequently is a terminal rather than an interstitial deletion.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / adverse effects*
  • Bone Marrow Examination
  • Chemoradiotherapy / adverse effects*
  • Chemoradiotherapy / mortality
  • Chromosome Aberrations / chemically induced*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 20 / drug effects*
  • Chromosomes, Human, Pair 20 / radiation effects*
  • Clonal Evolution
  • Databases, Factual
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kaplan-Meier Estimate
  • Male
  • Metaphase
  • Middle Aged
  • Neoplasms, Radiation-Induced / genetics*
  • Neoplasms, Radiation-Induced / mortality
  • Neoplasms, Radiation-Induced / pathology
  • Neoplasms, Second Primary / chemically induced*
  • Neoplasms, Second Primary / genetics*
  • Neoplasms, Second Primary / mortality
  • Neoplasms, Second Primary / pathology
  • Radiotherapy / adverse effects
  • Retrospective Studies
  • Risk Factors
  • Stem Cell Transplantation
  • Texas
  • Time Factors