Clinicopathological analysis of mullerian adenosarcoma of 22 cases and the sequencing of DICER1 mutation

Abstract Background Mullerian adenosarcoma is a rare malignancy the diagnosis and treatment of adenosarcoma is often challenging. We analyzed the clinicopathological features of 22 adenosarcomas and DICER1 hot mutations were screened. Methods Patients with adenosarcoma registered in the West China the second Hospital from year 2020 to June 2022 were examined. Somatic hotspot mutations in the RNase IIIb domain of DICER1 were screened in 22 adenosarcomas by Sanger sequencing. Results Only one patient (case16) had DICER1 mutation. All of 22 patients performed total hysterectomy with bilateral salpingo-oophorectomy and 14/22 these patients received adjuvant treatment. Conclusion No DICER1 hotspot mutations detected.Furthermore, 16/22 presents with early-stage tumors and have favorable outcome, whether overtreatment and adjuvant therapy is benefit for low-risk patients need more definitive data. Conservative management is possible in appropriately selected women with post-operatively intensive monitoring.