Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization

Br J Haematol. 2001 Mar;112(4):975-80. doi: 10.1046/j.1365-2141.2001.02630.x.

Abstract

Multicolour fluorescence in situ hybridization (M-FISH) simultaneously detects all 24 human chromosomes in unique fluorescent colours. The identification of diagnostically critical gene rearrangement(s) in complex karyotypes of haematological disorders continues to be a challenge. We present five cases in which t(9;11), complex t(8;22), t(12;21) and t(11;14) were detected primarily using M-FISH and were confirmed using locus-specific probes. We conclude that M-FISH can be effective in complete characterization of critical gene rearrangements in haematological disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acute Disease
  • Adult
  • Aged
  • Aged, 80 and over
  • Burkitt Lymphoma / genetics
  • Child
  • Child, Preschool
  • Female
  • Gene Rearrangement*
  • Hematologic Neoplasms / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping / methods
  • Leukemia, Myeloid / genetics
  • Lymphoma, Mantle-Cell / genetics
  • Male
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics