Detection of numerical chromosomal abnormalities in malignant cells on body fluids by fluorescence in situ hybridization of interphase cell nuclei with chromosome‐specific probes

Abstract

To detect numerical chromosomal abnormalities (NCA) in malignant cells on body fluids, Fluorescence in situ hybridization (FISH) technique was tested in clinical specimens from patients with metastatic disease. Directly labeled DNA probes specific for chromosomes 8, 12, X, and Y (Imagenetics, Naperville, IL) were used for in situ hybridization to interphase cell nuclei. Fifteen body fluids (BF) from various sites were studied. Based initially on the Papanicolaou-stained slides, there were seven malignant and eight benign samples. Blind analysis (200 cells/sample) showed that all benign samples had a normal number of chromosomes, whereas six of seven malignant samples showed different NCA comprising 5-60% of the cell population ranging from three to 10 chromosome signals per cell. We conclude that interphase cytogenetic cell analysis of BF by FISH is: (1) feasible and gives superior signals for detection of NCA, (2) helpful in detecting malignant cells, (3) relatively simple with a turnaround time of less than 24 hr. This method may have diagnostic and prognostic application in the study of the biologic behavior of malignant neoplasms.

Fluorescence <i>in Situ</i> Hybridization Studies on Breast Tumor Samples for Distinguishing Between Different Subsets of Breast Cancer

“…In their study, a decrease in disomy apparently correlated well with more severe stages, indicating that along with other methods, aneuploidy analysis by FISH may be useful in determining diagnostic and prognostic parameters. In contrast to the results recently published by Cajulis and Frias-Hidvegi, 14 we did not observe a decrease in the number of signals with increasing duration of storage prior to hybridization, although more than 50% of the slides were stored for more than one year. We are wondering if this may be due to the different storage conditions the slides were kept under.…”

Fluorescence <i>in Situ</i> Hybridization for Detecting ErbB-2 Amplification in Breast Tumor Fine Needle Aspiration Biopsies

“…Recently it has been proposed that polysomy may support the cytologic diagnosis of malignancy. 2 Even though this will be true in most cases, our knowledge of cytogenetic findings in nonneoplastic tissues is very limited. Recently there has been an increasing number of reports showing numerical chromosomal aberrations in normal tissues and benign tumors.…”

Numeric chromosomal abnormalities in small lymphocytic and transformed large cell lymphomas detected by fluorescence in situ hybridization of fine-needle aspiration biopsies

“…A few studies have performed FISH on cytologic specimens, but most studies are of effusions or aspirates of surgical specimens and not of FNAB specimens of lymph nodes. 2,9,10 Cytogenetic studies have shown several nonrandom alterations in patients with CLL. Abnormalities include numeric changes of chromosome 12 and deletions and/or translocations involving chromosome 13.…”