Gynecology and pelvic medicine · 2025
Delayed diagnosis for DICER1-associated embryonal rhabdomyosarcoma in the cervix for a 15-year-old girl: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Liao Hong, Luo Guolin, Liao Guangdong, Sun Liang, Tan Xin
Аннотация
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.
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.