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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Chromosome 2 (2p16) abnormalities in Carney complex tumours.
L Matyakhina1, S Pack, L S Kirschner
1Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA.
Journal of Medical Genetics
|April 5, 2003
Summary
Carney complex (CNC) involves skin pigmentation and tumors. Researchers found frequent chromosomal changes, mainly amplifications, in the 2p16 region of CNC tumors, suggesting a role in tumor development.
Area of Science:
- Genetics and Molecular Biology
- Oncology
- Endocrinology
Background:
- Carney complex (CNC) is an autosomal dominant disorder characterized by multiple endocrine neoplasia, lentiginosis, myxomas, and various tumors.
- CNC is genetically heterogeneous, with loci identified at 17q22-24 (CNC1) and 2p16 (CNC2). PRKAR1A gene mutations are linked to CNC1.
- The gene(s) responsible for CNC2 and other CNC forms remain uncharacterized, necessitating further investigation into tumor genetics.
Purpose of the Study:
- To precisely define the 2p amplicon within the CNC2 region in tumors from Carney complex patients.
- To investigate the frequency and nature of cytogenetic changes in the 2p16 region in CNC-associated tumors.
- To explore the potential role of genes in the 2p16 region in both inherited and sporadic endocrine tumor pathogenesis.
Main Methods:
- Genomic mapping of the CNC2 region was performed.
- 46 tumor samples from CNC patients (with and without PRKAR1A mutations) were analyzed using fluorescence in situ hybridization (FISH) with bacterial artificial chromosomes (BACs).
- Comparative genomic hybridization (CGH) was used to identify chromosomal rearrangements.
Main Results:
- Consistent cytogenetic changes, primarily amplifications (60%) and deletions (32%), were detected in the 2p16 region in 87% of analyzed CNC tumors.
- Amplifications were often observed as homogeneously stained regions (HSRs), with variable amplicon sizes.
- The identified cytogenetic changes in the 2p16 region overlap with amplicons in sporadic thyroid cancer and deletions in sporadic adrenal tumors.
Conclusions:
- Cytogenetic alterations, predominantly amplifications of the 2p16 region harboring the CNC2 locus, are frequent in tumors from Carney complex patients.
- These findings suggest that genes within the 2p16 region may play a significant role in the pathogenesis and progression of both inherited and sporadic endocrine tumors.
- Further research into the genes within the 2p16 amplicon is warranted to elucidate their specific contribution to Carney complex and other endocrine neoplasias.
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