Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma

Discovery proteomics reveals potential protein signature associated with malignant phenotype acquisition in pleomorphic adenoma

“…In about 6% of the cases, PA can undergo malignant transformation to carcinoma ex pleomorphic adenoma (CXPA). It is s believed that CXPA development is due to the accumulation of genetic, epigenetic, and metabolic changes in PA (El‐Naggar et al, 2017; Mariano et al, 2020; Scarini et al, 2020).…”

“…Recently, copy number changes on chromosome 8 (gains and losses), the gain of ETV6 on chromosome 12, and amplification of the MAML2 and LIFR genes have been described. The amplification of these last two genes is a novel finding regarding PA (Mariano et al, 2020). Despite the advances related to the protein profile of PA‐CXPA transition, its pathogenesis remains undefined.…”

Pleomorphic Adenoma with A Prominent Myoepithelial Cell Component: Case Report with Abbreviated Review of Literature

“…Using a variety of cytogenetic, molecular cytogenetic and molecular karyotyping based techniques, Thielker et al [15] recently reported chromosomal and/or submicroscopic alterations in 5 of 14 cases of PA, e.g., jumping translocation, gene copy variations involving twist-replated protein 1 (TWIST1) and distal-less homeobox 5 (DLX5) genes [15] ) could be potential biomarkers for a precise diagnosis of PA [16]. Lastly, Mariano et al [17] report that PA exhibited only a few copy alterations with the most frequent involving chromosomes 8:8p21.3-p12 (gain), 8q12.1 (loss), 8p23.3-q24.3 (gain), and 8q12.1-q21.11 (gain). Other suggested etiologic possibilities include radiation exposure [18] and exposure to the oncogenic simian virus (SV40) [19].…”