Fluorescent in situ hybridization in the diagnosis, prognosis, and treatment monitoring of chronic myeloid leukemia

Andrew P. Landstrom, Ayalew Tefferi

Research output: Contribution to journalReview article

34 Scopus citations


The unique molecular characteristic of chronic myeloid leukemia (CML), the disease-causing ABL (9q34) to BCR (22q11) translocation, has provided an invaluable tool for disease diagnosis and monitoring of treatment response. The traditional standard in this regard is bone marrow karyotype, also known as conventional cytogenetics (CC), which reveals a shortened chromosome 22, the Philadelphia chromosome, t(9;22)(q34;q11). CC in CML has also been effectively used for monitoring the response to drug therapy. However, this particular laboratory test misses submicroscopic BCR/ABL translocations and is suboptimal for minimal residual disease (MRD) assessment. Both fluorescence in situ hybridization (FISH) and reverse-transcriptase polymerase chain reaction (RT-PCR) feature higher sensitivity in terms of both diagnosis and MRD assessment in CML, compared to CC. Another advantage of these alternative tests is their effective applicability to peripheral blood specimens. The current review highlights the practical literature with respect to the use of FISH for CML whereas the use of RT-PCR has been extensively covered in recent communications.

Original languageEnglish (US)
Pages (from-to)397-402
Number of pages6
JournalLeukemia and Lymphoma
Issue number3
StatePublished - Mar 1 2006



  • Chronic myeloid leukemia
  • Cytogenetics
  • Diagnosis
  • Fluorescent in situ hybridization
  • Prognosis

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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