Fluorescence in situ hybridization provides evidence for two-step rearrangement in a masked Ph chromosome formation

Mario Sessarego, Giuseppina Fugazza, Letizia Canepa, Andrea Bacigalupo, Roberto Bruzzone, Franco Patrone

Research output: Contribution to journalArticle

Abstract

A chronic myelogenous leukemia (CML) patient with a masked Ph chromosome due to the translocation (9;10;22)(q34;q24;q11) is reported. Banding analysis showed a 9q+ chromosome typical of standard t(9;22)(q34;q11), and fluorescence in situ hybridization studies confirmed the involvement of a chromosome 10 in the masked Ph formation and also the presence of 3′ ABL-DNA sequences in the der(22). This complex rearrangement could be explained by two consecutive translocations: the first, a standard t(9;22) (q34;q11), the second, a translocation between a chromosome 10 and the der(22) with a breakpoint in sequences derived from chromosome 9 telomeric to the ABL gene. By reverse transcription polymerase chain reaction (RT-PCR), we studied the BCR/ABL transcript junction: a chimeric m-RNA b3-a2, indicating a breakpoint within the major breakpoint cluster region, was found.

Original languageEnglish
Pages (from-to)921-925
Number of pages5
JournalLeukemia Research
Volume19
Issue number12
DOIs
Publication statusPublished - 1995

Keywords

  • CML
  • FISH
  • masked Ph

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology

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