Interphase cytogenetics of hematological neoplasms under the perspective of the novel WHO classification.
The novel WHO classification of tumors of hematopoietic and lymphoid tissues highlights the importance of genetic aberrations for the proper diagnosis of these malignancies. Among those techniques allowing detection of chromosomal changes, we have shown repeatedly that interphase fluorescence in situ hybridization (FISH) is currently the most robust and reliable technique for the diagnosis of lymphoma-associated translocations. Interphase FISH assays for the detection of the most frequent chromosomal alterations in myeloid and lymphoid disorders have become commercially available during the recent past. The sensitivity of some of these assays reaches levels below 1% providing valuable tools not only for diagnosis but also for follow-up and detection of minimal residual disease. Improvements of interphase FISH include the development of multicolor interphase FISH assays to detect several of the diagnostic changes in a single cell and of simultaneous fluorescence immunophenotyping (FICTION technique) to correlate phenotypic and genotypic cell features.
Martín-Subero
José Ignacio
JI
Institute of Human Genetics, University Hospital Kiel, Schlerwig-Holstein Campus, Schwanenweg 24, 24105 Kiel, Germany.
Gesk
Stefan
S
Harder
Lana
L
Grote
Werner
W
Siebert
Reiner
R
D019337:Hematologic Neoplasms / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007399:Interphase; D016133:Polymerase Chain Reaction / Q000379:methods; D015203:Reproducibility of Results; D014944:World Health Organization