Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes

Abstract

Primary pleomorphic adenomas (PAs) and mucoepidermoid carcinomas (MECs) of the breast are vanishingly rare. Here we sought to determine whether breast PAs and MECs would be underpinned by the fusion genes reported to occur in their salivary gland counterparts. Our study included three breast PAs and one breast MEC, which were subjected to RNA sequencing (PAs, n = 2; MEC, n = 1) or to Archer FusionPlex sequencing (PA, n = 1). Our analyses revealed the presence of the HMGA2-WIF1 fusion gene in breast PA3, the CTNNB1-PLAG1 fusion gene in breast PA2, and the CRTC1-MAML2 fusion gene in the breast MEC analyzed (1/1). No oncogenic fusion genes were detected in breast PA1, and no additional oncogenic fusion genes were detected in the cases studied. The presence of the fusion genes identified was validated by fluorescence in situ hybridization (n = 1), reverse transcription-PCR (n = 1), or by both methods (n = 1). Taken together, our findings indicate that PAs and MECs arising in the breast resemble their salivary gland counterparts not only phenotypically but also at the genetic level. Furthermore, our data suggest that the molecular analysis of breast PAs and MECs might constitute a useful tool to aid in their differential diagnosis.

Design of a Novel Multi-Epitope Vaccine Against Echinococcus granulosus in Immunoinformatics

“…At present, it is believed that the immunogenicity of single epitope is weak, while the combination of T-and B-cell polypeptide epitopes can induce strong humoral and cellular immune responses at the same time (31). Epitopes combined Tand B-cell often have more than 50% immunogenicity of the complete antigen molecule (32)(33)(34) Thanks to the immune response induced by different antigens can obtain better immune protection effect than single protein antigen, we took the epitopes of proteins EgTeg and EgFABP1 in tandem array for getting stronger immune effect. We evaluated the performance of the vaccine designed in this study through in vivo and in vitro experiments.…”

Triple-negative breast carcinomas of low malignant potential: review on diagnostic criteria and differential diagnoses

“…Salivary gland MEC typically shows CRTC1/MAML2 translocation. Rare cases of breast MEC were shown to have MAML2 rearrangements [69][70][71].…”

Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

“…Both fusions reported in uterine myxoid LMS involved exon 2 or exon 3 of PLAG1 and the partner gene 26 . This rare uterine LMS variant now joins a wide variety of PLAG1 fusion‐positive lesions that often exhibit myxoid and/or chondroid morphology, including pleomorphic adenoma, 27‐35 carcinoma ex‐pleomorphic adenoma, 31,36‐39 cutaneous and soft tissue myoepithelial tumors, 40‐44 as well as lipoblastoma 45‐55 …”

“…Numerous fusion partners have been reported and vary in frequency by tumor type. In pleomorphic adenoma, reported fusion partners include the following genes in decreasing frequency: CTNNB1 , 28,29,35,70 CHCHD7 , 70,71 FGFR1 , 72 LIFR , 34,70 and TCEA1 71 . CTNNB1‐PLAG1 , and FGFR1‐PLAG1 fusions have also been reported in carcinoma ex‐pleomorphic adenoma, 37,70 although knowledge about the molecular abnormalities involved in the malignant transformation of benign pleomorphic adenoma remains limited.…”