[Chromosome aberrations in patients with papillary thyroid cancer and other neoplasms]. / Aberracje chromosomalne u chorych z rakiem brodawkowatym tarczycy i innymi nowotworami.

Cancer is essentially a genetic disease resulting from congenital or acquired alterations in some cells of the patient. Such changes may occur in particular oncogens and are responsible for the tumour phenotype of the affected population of cells. In contrast, unaltered tumour-suppressor genes are responsible for suppressing the neoplastic phenotype, and their inactivation by deletion or mutation permits cancerous development in the affected cells. The genetic model of carcinogenesis is based on the idea mutations at the DNA level, what creates a functional imbalance between the oncogenes and the tumour-suppressor genes, resulting in uncontrolled clonal proliferation. The ret/PTC oncogene is unique to papillary thyroid cancer. The paper presents a correlation analysis between chromosomal changes in papillary thyroid cancer and abnormalities of chromosomes in patients with breast cancer and chronic lymphocytic leukemia.

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as well as karyotype-phenotype correlation are discussed.