Pecorelli S, Sartori E, Favalli G, Ugazio A G, Gastaldi A
Department of Obstetrics and Gynecology, University of Brescia, Spedali Civili, Italy.
Gynecol Oncol. 1988 Feb;29(2):240-4. doi: 10.1016/0090-8258(88)90219-3.
Ataxia-telangiectasia, an inherited disorder characterized by progressive cerebellar ataxia and telangiectasias, is often associated with primary immunodeficiency and high incidence of malignancies, mostly of the lymphoreticular type. Endodermal sinus tumor is a rare germ cell tumor of the ovary characterized by an extremely rapid growth and poor prognosis. Both these diseases are associated with an abnormal production of alpha-fetoprotein. Primary tumors of the ovary in patients with ataxia-telangiectasia are extremely rare and the association of an endodermal sinus tumor and ataxia-telangiectasia has never been reported in the literature. This case report serves to focus on the particular problems encountered in the diagnosis and management of two diseases both characterized by the same serum marker.
共济失调毛细血管扩张症是一种遗传性疾病，其特征为进行性小脑共济失调和毛细血管扩张，常伴有原发性免疫缺陷和恶性肿瘤的高发病率，大多数为淋巴网状类型。内胚窦瘤是一种罕见的卵巢生殖细胞肿瘤，其特征是生长极快且预后不良。这两种疾病都与甲胎蛋白的异常产生有关。共济失调毛细血管扩张症患者的卵巢原发性肿瘤极为罕见，内胚窦瘤与共济失调毛细血管扩张症的关联在文献中从未有过报道。本病例报告旨在关注两种均以相同血清标志物为特征的疾病在诊断和管理中遇到的特殊问题。
