Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
Population
15 tumor and normal tissue specimens from 13 patients with Carney complex and 4 cultured cell lines.
Design
Other
Authors
Discussion
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Implication
Genomic instability patterns in Carney complex tumors should not yet change practice; leaves open 2p16 gene function in telomere maintenance for mechanistic studies.
Key Points
- To evaluate cytogenetic aberrations and microsatellite alterations across various tumors and cell lines from patients with Carney complex to elucidate the underlying genetic mechanism.
- Analyzed 15 tissue specimens from 13 patients with Carney complex (including 8 PPNAD adrenal tumors, 1 GH-producing adenoma, 1 thyroid cancer, and 1 normal adrenal tissue) alongside 4 myxoma cell lines.
- Conducted standard cytogenetic karyotyping and PCR amplification of 78 microsatellite markers spanning chromosomes 1 through 22.
- Telomeric associations were identified in one myxoma cell line and three PPNAD specimens, whereas adjacent normal adrenocortical tissue displayed normal chromosomes.
- Alterations included loss of heterozygosity (49%), gain of heterozygosity (26%), biallelic deletions (10%), and microsatellite length instability (15%), with telomeric markers significantly over-represented (P < 0.05).
- High rates of allele loss, gain, or deletion occurred on chromosomes 6 (73%), 11 (59%), 22 (47%), 10 (46%), and 19 (44%), with genomic instability patterns occurring independently of tumor type (P > 0.1).
Structured PICO
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Population
15 tumor and normal tissue specimens from 13 patients with Carney complex (GH-producing adenoma n=1, primary pigmented nodular adrenocortical disease [PPNAD] n=8, thyroid cancer n=1, normal adrenal gland n=1) and 4 cultured cell lines (heart myxoma n=3, eyelid myxoma n=1).
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Outcome
Cytogenetic aberrations (telomeric associations) and microsatellite alterations (loss and gain of heterozygosity, deletions, and microsatellite length instability)surrogate
Tumors from patients with Carney complex exhibit significant genomic instability, suggesting the causative gene on chromosome 2p16 has a dominant tumorigenic function related to telomere structure or mitotic apparatus rather than mismatch repair.
Cite This Study
Stratakis et al. (1996) studied this question.