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Updated: Jul 2, 2026

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Ring chromosomes in human neoplasias.

E Gebhart¹

¹Institute of Human Genetics, University of Erlangen-Nurnberg, Erlangen (Germany). egebhart@humgenet.uni-erlangen.de

Cytogenetic and Genome Research

|September 2, 2008

Summary

Ring chromosomes are rare in human cancers but can be diagnostic hallmarks in specific tumor types. Advanced molecular cytogenetics aids in identifying these complex chromosomal aberrations and their consequences.

Area of Science:

Cytogenetics
Oncology
Molecular Biology

Background:

Ring chromosomes are infrequently observed in human neoplasias.
They are often incidental findings within complex karyotypic alterations, typically indicating a poor prognosis.
However, specific tumor types exhibit high prevalence and specificity of ring chromosomes, useful for diagnosis and prognosis.

Purpose of the Study:

To review identified ring chromosomes in human neoplasias.
To highlight the diagnostic and prognostic significance of ring chromosomes.
To discuss the molecular consequences of ring formation.

Main Methods:

Literature review of reported cases with clearly identified ring chromosomes in human neoplasias.
Analysis of prevalence, specificity, and association with clinical outcomes.

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Inclusion of molecular cytogenetic findings related to ring formation.

Main Results:

A total of 760 cases with identified ring chromosomes in human neoplasias were reviewed.
Ring chromosomes can serve as cytogenetic hallmarks in certain malignancies, particularly mesenchymal tumors.
Molecular cytogenetics has enabled the identification of nonrandom breakpoint regions and defined molecular consequences of ring formation.

Conclusions:

Ring chromosomes, while generally rare, possess significant diagnostic and prognostic value in specific human neoplasias.
Advances in molecular cytogenetics have been crucial for accurate identification and understanding of ring chromosome formation.
Further research into the molecular consequences of ring formation is warranted.