Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type

A.F. Costa, A. Altemani, H. Vékony, E. Bloemena, F. Fresno, C. Suárez, J.L. Llorente, M. Hermsen

    Research output: Contribution to JournalArticleAcademicpeer-review


    Background: ACC can occasionally undergo dedifferentiation also referred to as high-grade transformation (ACCHGT).
    However, ACC-HGT can also undergo transformation to adenocarcinomas which are not poorly differentiated. ACC-HGTis generally considered to be an aggressive variant of ACC, even more than solid ACC. This study was aimed to describe thegenetic changes of ACC-HGT in relation to clinico-pathological features and to compare results to solid ACC.
    Methods: Genome-wide DNA copy number changes were analyzed by microarray CGH in ACC-HGT, 4 with transformationinto moderately differentiated adenocarcinoma (MDA) and two into poorly differentiated carcinoma (PDC), 5 solid ACC. Inaddition, Ki-67 index and p53 immunopositivity was assessed.
    Results: ACC-HGT carried fewer copy number changes compared to solid ACC. Two ACC-HGT cases harboured a breakpointat 6q23, near the cMYB oncogene. The complexity of the genomic profile concurred with the clinical course of the patient.
    Among the ACC-HGT, p53 positivity significantly increased from the conventional to the transformed (both MDA and PDC)component.
    Conclusion: ACC-HGT may not necessarily reflect a more advanced stage of tumor progression, but rather a transformation toanother histological form in which the poorly differentiated forms (PDC) presents a genetic complexity similar to the solid ACC.
    Original languageEnglish
    Pages (from-to)217-228
    JournalAnalytical Cellular Pathology
    Issue number5
    Publication statusPublished - 2010


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