ArticleGynecology and pelvic medicine2025
Delayed diagnosis for DICER1-associated embryonal rhabdomyosarcoma in the cervix for a 15-year-old girl: a case report.
Article in Gynecology and pelvic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Cervical embryonal rhabdomyosarcoma (ERMS) is a rare type of malignant cervical tumors which is usually found in young females. The symptoms of cervical ERMS are non-specific. The age of onset and the hidden site of the tumor make it difficult to make an early diagnosis. Case Description: Here we report a case of a 15-year-old girl with cervical ERMS and her non-specific symptoms started from a vulval mass stuck in the vaginal opening. This case is unique in terms of the cervix-similar appearance and the initial ultrasound images, which made the vulval mass misdiagnosed as a prolapsed cervix at first. Then the mass was resected and the diagnosis of ERMS was made by the pathological examinations. A somatic heterogenous variation of DICER1 gene (NM_001271282, c.5662A>C) was found in the mass tissue. Three cycles of VAC (vincristine + actinomycin D + cyclophosphamide) combination chemotherapy and another cervical conization surgery were taken out for maximum therapeutic effect. The patient remained disease-free in the 12-month follow-up. Conclusions: This rare case reminds us that the tumor diagnosis should always be taken into consideration for any unexpected mass. A multi-disciplinary team including gynecologist, pediatrician, oncologist, radiologist, and pathologist could be a good choice to avoid such a pitfall of misdiagnosis.
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