Detection of copy number alterations in metastatic melanoma by a DNA fluorescence in situ hybridization probe panel and array comparative genomic hybridization: a southwest oncology group study (S9431).

Purpose: Gene copy number alteration (CNA) is common in malignant melanoma and is associated with tumor development and progression. The concordance between molecular cytogenetic techniques used to determine CNA has not been evaluated on a large set of loci in malignant melanoma.

Experimental Design: A panel of 16 locus-specific fluorescence in situ hybridization (FISH) probes located on eight chromosomes was used to identify CNA in touch preparations of frozen tissue samples from 19 patients with metastatic melanoma (SWOG-9431).

Challenges in array comparative genomic hybridization for the analysis of cancer samples.

Purpose: To address some of the challenges facing the incorporation of array comparative genomic hybridization technology as a clinical tool, including archived tumor tissue, tumor heterogeneity, DNA quality and quantity, and array comparative genomic hybridization platform selection and performance.

Methods: Experiments were designed to assess the impact of DNA source (e.g.

An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies.

Chromosome rearrangements involving band 3q26.2 are associated with myeloid malignancies, aberrant expression of the human ecotropic virus integration site-1 (EVI1) gene, an unfavourable prognosis and an aggressive clinical course. The 3q26.

Targeting multiple genetic aberrations in isolated tumor cells by spectral fluorescence in situ hybridization.

Purpose: Tumorigenesis is characterized by the stepwise accumulation of multiple genetic changes that modify specific growth controls and cell survival. Conventional fluorescence in situ hybridization (FISH) assays reliably target one to three probes in a single hybridization. Simultaneous detection of more than three chromosomal or gene targets should increase the overall power of molecular cytogenetics by permitting detection of multiple genetic aberrations at the single cell level.