|Title||Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.|
|Publication Type||Journal Article|
|Year of Publication||2022|
|Authors||Boyraz B, Tajiri R, Alwaqfi RR, Paula ADa Cruz, Ye Q, G Nielsen P, Hung YP, Oliva E, Weigelt B, Hisaoka M, Watkins JC|
|Date Published||2022 Dec|
|Keywords||Adult, Cytochrome P-450 CYP2E1, Female, Humans, Middle Aged, Recurrence, Sarcoma, Sequence Analysis, RNA, Soft Tissue Neoplasms, Vulvar Neoplasms|
Angiomyofibroblastoma (AMF), a rare benign vulvovaginal mesenchymal tumour, poses a diagnostic challenge due to histologic and immunohistochemical overlap with other vulvar mesenchymal tumours. Recently, MTG1-CYP2E1 fusion transcripts were reported in 5/5 AMFs; no other genetic alterations have been described to date. Herein, we sought to investigate the frequency of the MTG1-CYP2E1 fusion and the presence of other potential genetic alterations in a cohort of AMFs (n = 7, patient age range: 28-49 years). Tumours demonstrated classic morphologic features including alternating hypo/hypercellular areas, capillary channels surrounded by epithelioid/spindled tumour cells, and variable amounts of mature adipose tissue. reverse transcription-polymerase chain reaction (RT-PCR) for MTG1-CYP2E1 fusion, performed in all seven cases, showed the fusion transcript in five of six cases (one case with technical failure). Two tumours, including the one lacking the fusion, were subjected to targeted next-generation sequencing (104 genes) and a sarcoma fusion assay (28 genes); the fusion negative AMF also underwent RNA sequencing. No additional mutations, copy number alterations, or fusion genes were identified with the assays employed. We conclude that the majority of AMFs harbour recurrent MTG1-CYP2E1 fusion transcripts and identification of this fusion may aid in the diagnosis.
|PubMed Central ID||PMC10335785|
|Grant List||P30 CA008748 / CA / NCI NIH HHS / United States |
P50 CA247749 / CA / NCI NIH HHS / United States
Baris Boyraz, M.D., Ph.D.