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Published on: October 25, 2011
Loss of heterozygosity in endometrial carcinoma
Ana Velasco1, Judit Pallares, Maria Santacana
1Department of Pathology and Molecular Genetics, Hospital Universitari Arnau de Vilanova, University of Lleida, IRBLLEIDA, Lleida, Spain.
Abstract:
Inactivation of a tumor suppressor gene typically occurs in two steps, thus fulfilling Knudson hypothesis. One "hit" is frequently a point mutation or a small deletion. The other alteration is usually a large genomic loss of part of a gene, or even part of a chromosome, or the whole chromosome. However, it is not clear which of these two events occurs first. Loss of heterozygosity (LOH) analysis allows the identification of one of the 2 hits. Although microsatellite polymerase chain reaction is the technique most frequently used to assess LOH, other different approaches can also be used. The LOH can also be assessed by restriction fragment length polymorphism analysis, single strand conformation polymorphism analysis, oligonucleotide microarrays capable to simultaneously determine the genotype of thousands of single-nucleotide polymorphism (single-nucleotide polymorphism arrays), comparative genomic hybridization, multiplex amplification and probe hybridization, and multiplex ligation-dependent probe amplification. In this article, the authors review the results obtained with molecular analysis of LOH in the understanding of development and progression of endometrial carcinoma. Particular attention is given to: (1) the presence of widespread LOH in nonendometrioid carcinoma, probably reflecting the existence of chromosomal instability; and (2) specific LOH patterns associated with some clinicopathologic features.
Insights
Loss of heterozygosity (LOH) analysis reveals tumor suppressor gene inactivation in endometrial carcinoma. Widespread LOH in non-endometrioid types suggests chromosomal instability and specific patterns link to clinicopathologic features.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Tumor suppressor gene inactivation follows a two-step process, per Knudson's hypothesis.
- One hit is often a point mutation or deletion; the second is typically a large genomic loss.
- The order of these two events in tumor suppressor inactivation remains unclear.
Purpose of the Study:
- To review molecular analysis of Loss of Heterozygosity (LOH) in endometrial carcinoma development and progression.
- To highlight LOH patterns associated with specific clinicopathologic features.
- To discuss the implications of widespread LOH in non-endometrioid carcinoma.
Main Methods:
- Loss of heterozygosity (LOH) analysis.
- Microsatellite polymerase chain reaction (PCR).
- Other methods including restriction fragment length polymorphism, single-strand conformation polymorphism, oligonucleotide microarrays, comparative genomic hybridization, multiplex amplification and probe hybridization, and multiplex ligation-dependent probe amplification.
Main Results:
- Widespread LOH is present in non-endometrioid endometrial carcinoma, indicating chromosomal instability.
- Specific LOH patterns are associated with distinct clinicopathologic features.
- LOH analysis aids in understanding the two-step inactivation of tumor suppressor genes.
Conclusions:
- LOH analysis is crucial for understanding endometrial carcinoma tumorigenesis.
- Chromosomal instability is likely a key factor in non-endometrioid carcinoma development.
- Identifying specific LOH patterns can inform prognostic and diagnostic strategies.
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