Beta-catenin mutations in pulmonary blastomas: association with morule formation.

Abstract

To elucidate the contribution of beta-catenin gene mutation to the development of pulmonary blastomas, we analysed mutations in three well-differentiated fetal adenocarcinomas (WDFAs) and six biphasic pulmonary blastomas (BPBs). For comparison, eight clear-cell adenocarcinomas with fetal lung features were also examined. beta-Catenin gene mutations were found in all three WDFAs, two BPBs, and none of the clear-cell adenocarcinomas with fetal lung features. All tumours with mutations had a common histological feature, namely morule formation, and showed a characteristic heterogeneous beta-catenin expression pattern that was revealed by immunohistochemistry. Strong nuclear/cytoplasmic expression of beta-catenin was seen in clustered cells in the morular areas and in single cells in glands, and was associated with neuroendocrine differentiation. As beta-catenin mutations are rare among lung tumours, this distinctive genetic feature, which is also immunohistochemically detectable as overexpression with a heterogeneous pattern, has diagnostic significance. The presence of this common genetic alteration found in both WDFA and BPB implies a histogenetic linkage between these tumours.

• Authors: Shigeki Sekine, Tatsuhiro Shibata, Yoshihiro Matsuno, Arafumi Maeshima, Genichiro Ishii, Michiie Sakamoto, Setsuo Hirohashi
• Journal: The Journal of pathology (J Pathol) Vol. 200 Issue 2 Pg. 214-21 (Jun 2003) ISSN: 0022-3417 [Print] England
• PMID: 12754743 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2003 John Wiley & Sons, Ltd.

Chemical References

• CTNNB1 protein, human
• Cytoskeletal Proteins
• DNA, Neoplasm
• Neoplasm Proteins
• Trans-Activators
• beta Catenin

Topics

• Adenocarcinoma (genetics, metabolism, pathology)
• Adenocarcinoma, Clear Cell (genetics, metabolism, pathology)
• Adult
• Aged
• Cytoskeletal Proteins (genetics, metabolism)
• DNA Mutational Analysis (methods)
• DNA, Neoplasm (genetics)
• Diagnosis, Differential
• Female
• Humans
• Lung Neoplasms (genetics, metabolism, pathology)
• Male
• Middle Aged
• Morula (pathology)
• Mutation
• Neoplasm Proteins (genetics, metabolism)
• Pulmonary Blastoma (genetics, metabolism, pathology)
• Trans-Activators (genetics, metabolism)
• beta Catenin