Basto Raquel, Brandão Rêgo Inês, Correia Magalhães Joana, Sousa Maria João, Cunha Pereira Tatiana, Broco Sofia, Pazos Isabel, Carvalho Teresa, Sousa Gabriela
Medical Oncology Department, Instituto Português de Oncologia de Coimbra, Francisco Gentil, E.P.E., Coimbra, Portugal.
Medical Oncology Department, Centro Hospitalar e Universitário de São João, Porto, Portugal.
Eur J Case Rep Intern Med. 2021 Sep 14;8(10):002870. doi: 10.12890/2021_002870. eCollection 2021.
Epithelioid trophoblastic tumour (ETT) is a very rare variant of gestational trophoblastic disease, which arises in reproductive-age women with a prior gestational history. Because of its rarity, its biological behaviour, imaging characteristics and therapeutic schedule have not yet been fully established. Here we describe a rare case of metastatic ETT in a premenopausal woman. A 40-year-old, gravida 3, para 2, Portuguese woman was referred to the dermatology department for multiple skin nodules on the scalp measuring between 1 and 6 cm. A skin biopsy was suggestive of metastatic lesions of low differentiated carcinoma in favour of squamous cell carcinoma. Staging cervical-thoracic-abdominal and pelvic CT showed multiple lesions compatible with metastasis (ganglia, lung and kidneys). Since a CT scan was unable to identify the primary tumour, it was decided to perform a PET-CT scan and to take a biopsy of a vulvar nodule which had been clinically identified as ETT. The patient began the EMA-CO protocol and completed two cycles but with clinical worsening and radiological progression. Although several different chemotherapy regimens are used to treat gestational trophoblastic disease, the optimal treatment is not known given the rarity of this disease and the lack of controlled trials.
Trophoblastic disease is a rare entity with several presentations at diagnosis.Presentation with dermatological changes may need differential diagnosis to distinguish it from other types of dermatological disease.Quick diagnosis and referral to an appropriate centre are needed.
上皮样滋养细胞肿瘤(ETT)是妊娠滋养细胞疾病中一种非常罕见的类型,发生于有妊娠史的育龄妇女。由于其罕见性,其生物学行为、影像学特征和治疗方案尚未完全明确。在此,我们描述一例绝经前妇女转移性ETT的罕见病例。一名40岁、孕3产2的葡萄牙妇女因头皮上有多个大小在1至6厘米之间的皮肤结节被转诊至皮肤科。皮肤活检提示低分化癌转移性病变,支持鳞状细胞癌。颈胸腹部及盆腔CT分期显示多个与转移相符的病变(淋巴结、肺和肾)。由于CT扫描无法确定原发肿瘤,决定进行PET-CT扫描并对临床上已确定为ETT的外阴结节进行活检。患者开始采用EMA-CO方案并完成了两个周期,但临床症状恶化且影像学进展。尽管有几种不同的化疗方案用于治疗妊娠滋养细胞疾病,但鉴于该疾病的罕见性和缺乏对照试验,最佳治疗方案尚不清楚。
滋养细胞疾病是一种罕见的疾病,诊断时有多种表现形式。出现皮肤改变时可能需要进行鉴别诊断,以将其与其他类型的皮肤病区分开来。需要快速诊断并转诊至合适的中心。