Genomic Imbalances in Ependymoma by Degenerate Oligonucleotide Primed PCR-Comparative Genomic Hybridization

BACKGROUND: The most consistent chromosomal abnormality in ependymomas, is loss of 22q (17-75%) and gain of 1q (0-50%). However, significance of this abnormality is uncertain. METHODS: Genomic imbalances in 27 Korean ependymomas, including 21 low grade ependymomas, 4 anaplastic and 2 myxopapillary ependymomas, were analyzed by degenerate oligonucleotide primed-PCR-comparative genomic hybridization. RESULTS: Common gains were found in 17 (63%), 20q (59%), 9q34 (41%), 15q24-qter (33%), 11q13 (30%), 12q23 (26%), 7q23-qter (26%), 16q23-qter (30%), 19 (26%), and 1q32-qter (22%). DNA amplification was identified in 12 tumors (44%). Chromosomal loss was a less common occurrence in our study, but was found in 13q (26%), 6q (19%), and 3 (11%). CONCLUSION: The recurrent gains or losses of the chromosomal regions which were identified in this study provide candidate regions that may be involved in the development and progression of ependymomas.

Tracheal Agenesis: Report of an autopsy case

Tracheal gaenesis is an extremely rare congenital anomaly and is characterized by totally or partially undeveloped trachea. In many instances, the lesion has been associated with malformations in other organ systems. This anomaly is classified into 3 types based on developmental period of the respiratory tract. We report a case of tracheal agenesis with tracheoesophageal fistula in a 2-hour-old male. Postmortem examination revealed that the upper and mid portion of the trachea was absent but 1 cm segment of the trachea above the carina was present. The proximal end to this trachea opened to the esophagus by a fistula, 1 cm in diameter. The well-formed larynx ended blindly in a fibrous sac at which thyroids and cartilage islands are noted. Associated anomalies were bilobed right lung and single umbilical artery.