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Yolk Sac Tumor in Extragonadal Pelvic Sites: Still a Diagnostic Challenge.

盆腔性腺外部位的卵黄囊瘤:仍然是一个诊断难题

Ravishankar S,Malpica A,Ramalingam P,Euscher ED

Abstract

We present the clinicopathologic features of 15 cases of extragonadal yolk sac tumor (EGYST) detected in female patients and reviewed at our institution from 1988 to 2016. We recorded: patient age, clinical presentation, tumor location, FIGO stage (where applicable), histologic patterns including presence/absence of Schiller-Duval bodies, other germ cell or somatic components, immunoperoxidase results, treatment, and outcome. Patients' ages ranged from 17 to 87 (median, 62) years and presentation included: abnormal uterine bleeding, 12; hematuria, 1; labial mass, 1; abdominal pain, 1. Primary sites were as follows: uterus (11), vagina (1), vulva (1), bladder (1), and peritoneum (1). Seven patients presented at FIGO stage III or IV. The following histologic patterns were observed: microcystic/reticular (7), glandular (8), solid (8), papillary (5), and hepatoid (1). An admixture of histologic patterns was present in 10 cases. Schiller-Duval bodies were seen in only 3 (23%) cases. Eight cases (46%), all uterine primaries, had associated somatic components, and 2 (15%) had a second germ cell component. In 13/14 (93%) cases, the yolk sac tumor component was either missed or misclassified as adenocarcinoma. Immunoperoxidase studies facilitated the diagnosis in all cases as follows: SALL4, 12/12; CDX2, 10/12; α fetoprotein, 7/14; glypican-3, 9/10; cytokeratin 20, 5/9 (rare cells); cytokeratin 7, 3/12 (nondiffuse); PAX8, 2/9 (variable expression). All patients received chemotherapy and all except 1 underwent surgical resection. Follow-up from 5 to 86 months was available for 13 patients: 5 died of disease, 6 are alive with disease, and 2 have no evidence of disease. EGYST arising in the female pelvis of peri/postmenopausal patients may be associated with a somatic component and represent either somatically derived YST or YST differentiation within a somatic carcinoma. EGYST in younger patients is likely a true germ cell neoplasm, and may respond to germ cell appropriate chemotherapy. The benefit of germ cell appropriate chemotherapy in somatically derived EGYST is less clear. Awareness that the presence of glandular or microcystic patterns may lead to under-recognition or misdiagnosis of EGYST in combination with immunomarkers for germ cell and yolk sac differentiation will facilitate the diagnosis.

摘要

本文作者回顾性分析了1988年至2016年期间他们机构的15例女性患者性腺外卵黄囊瘤(EGYST)的临床病理特点。包括患者年龄、临床表现、肿瘤部位、FIGO分期(如适用)、组织学形态(包括是否出现Schiller-Duval小体、其它生殖细胞或体细胞成分)、免疫表型、治疗及结局。年龄范围17-87岁(中位年龄62岁)。

临床表现包括:12例出现子宫异常出血,1例出现血尿,1例发现阴唇肿物,1例表现为腹痛。原发部位分别为:子宫(11例)、阴道(1例)、外阴(1例)、膀胱(1例)、腹膜(1例)。7例患者FIGO分期为Ⅲ或Ⅳ期。作者观察到以下组织学结构:微囊/网状(7例)、腺管状(8例)、实性(8例)、乳头状(5例)和肝样(1例),有10个病例混合存在上述组织学结构。Schiller-Duval小体仅见于3例(23%);8例(46%)(全部原发于子宫)含有体细胞成分,2例(15%)含有第二种生殖细胞成分。13/1493%)的病例忽视了卵黄囊瘤的成分或误认为是腺癌。所有病例中下述免疫表型有助于辅助诊断:SALL412/12),CDX210/12),甲胎蛋白(7/14),glypican-39/10),细胞角蛋白205/9、极少数细胞),细胞角蛋白73/12、非弥漫性),PAX82/9、表达不一)。所有患者均接受化疗,除1例外均进行手术切除。13例患者具有随访资料,随访5-86个月;5例死于疾病,6例带病生存,2例无病生存。

起源于围绝经期/绝经后女性盆腔的EGYST可能伴有体细胞成分,提示体细胞成分源于YST或者体细胞癌内向YST分化。年轻患者的EDYST可能是一种真正的生殖细胞肿瘤,并且可能对针对生殖细胞肿瘤的化疗有反应。针对生殖细胞肿瘤的化疗对含有体细胞成分的EGYPT的获益尚不太清楚。腺管状或微囊状模式的存在可能导致对EGYST的认识不足或误诊,联合生殖细胞和卵黄囊分化的免疫标记物有助于诊断。

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