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Interphase cytogenetics in mammographically detected breast lesions
1Department of Pathology, The University of Texas M.D. Anderson Cancer Center, Houston 77030 , USA.
Human Pathology
|April 1, 1996
Summary
Chromosomal aberrations are common in breast lesions, increasing with disease progression. These changes in atypical hyperplasias (AH) and nonproliferative (NP) lesions suggest potential malignancy, aiding in breast lesion categorization.
Area of Science:
- Cytogenetics
- Oncology
- Breast Pathology
Background:
- Mammographically detected breast lesions (MDBL) require accurate classification.
- Chromosomal aneuploidy is a hallmark of cancer, but its presence in pre-malignant and non-malignant breast lesions is less understood.
Purpose of the Study:
- To investigate chromosomal aneuploidy in different categories of MDBL.
- To correlate chromosomal aberrations with disease progression and histological findings.
Main Methods:
- Cytological smears from 25 MDBL (7 nonproliferative (NP), 7 atypical hyperplasias (AH), 11 carcinomas (CA)) were analyzed using fluorescent in situ hybridization (FISH).
- Pericentromeric probes for chromosomes 7-12, 17, 18, and X were used.
- Monosomy and trisomy/tetrasomy were defined based on signal counts; results were correlated with histological evaluation.
Main Results:
- Chromosomal aberrations were detected in 40% of NP lesions, 100% of AH lesions, and 100% of CA lesions.
- The mean number of cells with numerical aberrations significantly increased from NP (1.04) to AH (8.5) to CA (20.2) (P = .0001).
- Chromosomal gain was the most frequent aberration; the X chromosome showed significant differences across groups. Chromosomal loss occurred in 20% of specimens.
Conclusions:
- Significant chromosomal aberrations are detectable in atypical hyperplasias and nonproliferative epithelium, particularly in patients with increased risk.
- Numerical chromosomal aberrations increase with breast lesion progression.
- Aneuploidy in AH lesions suggests potential submicroscopic malignant features, and combined aberrations aid in cytology-based breast lesion categorization.