Uterine embryonal rhabdomyosarcoma in adult women: a case report on the challenging diagnosis and treatment

Abstract

Background: Uterine embryonal rhabdomyosarcoma (uERMS) in adult women is a very rare malignant entity. The study aim was to report a case of adult uERMS and to discuss the implications of histopathological diagnosis on the treatment and prognosis. Case presentation: We present here the clinicopathological features of a uERMS case in an adult woman. The study has been approved by the institutional Ethics Committee and an informed consent has been obtained (IJB/CE3005). A 45-year-old woman presented to her gynecologist with intermenstrual bleedings and polypoid cervical mass (initially interpreted as benign polyp). A second biopsy was sent to our Department of Pathology at the Jules Bordet Institute, Brussels, Belgium for revision and was reinterpreted as botryoid-type uERMS. The patient underwent a total hysterectomy. The final pathology confirms a 3 cm cervical ERMS, and a simple surveillance was decided by our multidisciplinary team. Six months later, pelvic magnetic resonance imaging control showed a recurrence in the right pelvic lymph nodes. Multi-drug chemotherapy and radiotherapy were done before surgical resection. Pathological examination of the resected pelvic mass confirmed uERMS recurrence of 60 mm, with large zones of necrosis and the presence of cartilaginous structures. The patient is free of disease 60 months after diagnosis. Conclusions: Adult uERMS is rare and the pathological examination is the main element for diagnosis and treatment. It is often confused with other benign entities, at least at the time of diagnosis. ERMS should be included in the differential diagnosis of cervical and uterine polyp of adult women. Long-term survival is possible with a multimodal therapy approach.

Clinicopathologic characteristics, treatment, prognosis and pregnancy outcomes in rhabdomyosarcoma of the uterine cervix: a case series

“…Typical ERMS lesions are nodular, papillary, polypoid, or grape-like masses, which may also grow infiltratively, involve surrounding tissues or metastasize distantly. Due to the relative rarity of cervical RMS, misdiagnosis occurs in up to a quarter of women [1], and cervical ERMS can easily be misdiagnosed as cervical polyps or leiomyosarcoma. In this study, 2 patients were considered for "cervical polyps" to undergo polypectomy in other hospitals, but their cervical mass quickly recurred.…”

“…Only 0.5% of primary RMSs are located in the cervix, and they usually appear in the first two decades of life. Cervical RMS that appears in adults is even rarer [1]. Most of the current knowledge about RMS comes from case reports, clinical studies by the Intergroup Rhabdomyosarcoma Study Group (IRSG) and Children's Oncology Group (COG), and the consensus of the International Soft-Tissue Sarcoma Consortium (INSTRuCT) [2].…”