Fluorescence In Situ Hybridization (FISH) for Detection of MAML2 Rearrangement in Patients with Adenosquamous Carcinoma of Uterine Cervix
Golnar Rasty, Suzanne Kamel-Ried. University Health Network and LMP, University of Toronto, Toronto, ON, Canada
Background: Cervical adenosquamous carcinomas are defined as tumors containing an admixture of malignant squamous and glandular cells. It is a relatively uncommon tumor with aggressive behavior. Mucoepidermoid carcinoma (MEC) of salivary glands shows translocation t(11;19). In view of morphological similarities between adenosquamous carcinoma of uterine cervix and some MEC's of the salivary glands, and the possibility of development of drug therapy targeted to the gene rearranged in MEC, we decided to evaluate for t(11;19) translocation in patients with adenosquamous carcinoma of uterine cervix.
Design: After obtaining ethics approval, we identified 19 cases of adenosquamous carcinoma in our archives. Patient age ranged from 30 to73 (average of 46). Of 19 cases, 2 were grade 1, 8 grade 2 and 9 grade 3. Fusion of the MECT1/MAML2 genes, resulting in t(11;19)(q21;p13) was evaluated in the 19 formalin fixed paraffin embedded tissue (FFPE) samples of tumors by a dual color fluorescence in situ hybridization (FISH) assay using the following bacterial artificial chromosome (BAC) clones: RP11-27C9 and RP11-1071A4 for MECT1 gene and RP11-277H22, RP11-111I14 and RP11-145B9 for MAML2 gene.
Results: Interpretable FISH results were obtained for all specimens by scoring 60-100 cells/sample. All samples were negative for the MECT1/MAML2 fusion. However, 2/19 cases showed MECT1 amplification, 3/19 cases had an extra copy of the MAML2 gene, and extra copies of both MECT1 and MAML2 genes were found in 5/19 cases.
Conclusions: Our study demonstrates that all cases with moderate to poorly differentiated adenosquamous carcinoma are negative for t(11;19); however it appears that copy number changes/amplification/translocation of MECT1 and MAML2 may be involved in the pathogenesis of this disease. Further evaluation of the changes observed in these individual genes, and possible translocations with other partners such as CRCT2 and CRCT3 are currently being undertaken.
Category: Gynecologic & Obstetrics
Wednesday, March 21, 2012 9:30 AM
Poster Session V # 133, Wednesday Morning