Annals of Case Reports and Clinical Studies (ISSN: 2834-5673) | Volume 4, Issue 8 | Case Report | Open Access DOI
Gertraud Heinz*
Gertraud Heinz1*, Nicol Bolletta1, Alexandra Ökrösi1, Lukas Lomoschitz1, Susanne Schubert2, Melitta Kitzwögerer3
1Department of diagnostic and interventional Radiology, University Hospital of St. Pölten, Austria
2Department of Gynaecology and Obstetrics, University Hospital of St. Pölten, Austria
3Department of clinical and molecular Pathology, University Hospital of St. Pölten, Austria
*Correspondence to: Gertraud Heinz
Fulltext PDFBackground: Embryonal rhabdomyosarcoma (ERMS) is a major histological subtype of Rhabdomyosarcoma which may have a polypoid variant called Sarcoma botryoides or botryoid RMS arising from embryonal rhabdomyoblasts. Botryoid RMS is the most prevalent rhabdomyosarcoma subtype in female genital tract and occurs predominantly in the vagina during infancy and early childhood. Uterine ERMS in adults occur most commonly in the cervix, followed by the corpus uteri. The pathogenesis of ERMS is unclear. DICER1 somatic and/or germ-line mutation may play a role. Patients usually present with a polypoid mass in the vagina, urinary and bowel symptoms, and they may have severe vaginal bleeding. Due to its rare occurrence treatment remains challenging as finally the preservation of hormonal, sexual and reproductive function should also be a goal. However, there has been an increasing tendency towards conservative therapy in recent years consisting of limited surgery and multidrug therapy.
Case Presentation: We report a case of a 22-year-old Austrian young female adult presenting with severe abdominal-pelvic pain and vaginal bleeding three months after resection of a benign cervical/uterine polyp. Clinical and MRI examination showed a large polypoid-like mass with a stalk-like structure in the uterine cavity protruding into the vagina.
The patient subsequently underwent an emergency excisional surgery of the polypoid mass, hysteroscopy, and curettage of the uterine cavity. There was no evidence of residual disease. Histopathology revealed an ERMS of the botryoid variant. The patient was referred to a specific sarcoma center. Since the patient decided for preservation of the reproductive system, the tumor board of this center recommended ovarian tissue conservation surgery (OTC) and adjuvant radiation and multidrug chemotherapy with IVA. During laparoscopic OTC an additional large right sided ovarian cyst was removed which was unremarkable on histology. Follow-up MRI after 4 cycles of IVA was suspicious of recurrent disease which was confirmed by diagnostic hysteroscopy and fractional curettage revealing sarcomatous tissue. The patient finally underwent radical hysterectomy and further adjuvant chemotherapy. On close clinical and imaging follow-up there has not been evidence of recurrent disease up to now.
Conclusions: This very rare case of uterine cavity botryoid rhabdosarcoma in a 22-year-old young female adult shows that the presence of a cervical polyp in a young adult may be a gynecologic oddity and needs careful evaluation and histopathologic work-up. Although treatment strategies changed towards more conservative approaches a fertility sparing treatment still remains challenging. Further research must be done to evaluate the most appropriate chemotherapy regimen including the number and sequence of the chemotherapy agents. In addition, the value of a neoadjuvant concept according to treatment outcome and fertility preservation should be studied.
Rhabdomyosarcoma; Uterine Cavity; Young Female Adult; Case Report; Chemotherapy; Ovarian tissue conservation
Gertraud Heinz, Nicol Bolletta, Alexandra Ökrösi, Lukas Lomoschitz, Susanne Schubert, Melitta Kitzwögerer. Embryonal Rhabdomyosarcoma of the Uterine Corpus in a 22-Year-Old Woman: A Case Report and Review of the Literature. Ann Case Rep Clin Stud. 2025;4(8):1-10.