Tumori, 81: 378-380, 1995 SUSPECTED EXTRAGONADAL GERM-CELL CANCER SYNDROME PRESENTING WITH AN ORBITAL MASS AND ELEVATION OF SERUM CEA, CA19-9 AND CASO LEVELS Juan J Cruz, Alfonso Duenas, Consuelo Sanchez, Emilio Fonseca, Amalia Gomez, German Martin, Pedro Sanchez, Marta Navalon, and Andres Garcia-Palomo (Department of Oncology, University Hospital, Salamanca, Spain) Patients with extragonadal germ-cell cancer syndrome (EGCCS) represent a subgroup of patients with poorly dif- ferentiated carcinoma or adenocarcinoma of an unknown primary site for whom potentially curative therapy is avail- able. We report the case of a young man presenting an or- bital tumor and high serum levels of CEA, CA19-9 and CASO for whom an initial diagnosis of metastatic poorly dif- ferentiated carcinoma was made. Suspecting EGCCS, he was treated as for a germ-cell tumor. While in treatment, he underwent residual orbital mass resection, and the histo- logic diagnosis was embryonal carcinoma based on alpha- fetoprotein immunoperoxidase staining. We discuss the rare location at diagnosis, the impressive increase in the commonly considered gastrointestinal markers that he showed, and the potential utility of these markers for such patients. Key words: Extragonadal germ-cell cancer, unknown primary, CEA, CA19-9, CASO, chemotherapy. Cancer of an unknown primary site occurs in 5% to 10% of patients with malignant disease (2). The iden- tification of a subset of these patients with poorly dif- ferentiated carcinoma (PDC) or adenocarcinoma (PDAC) has been a gratifying event in oncology be- cause such patients can attain a good response to cis- platin-based chemotherapy. The extragonadal germ cell cancer syndrome (EGCCS), described in 1979 (1), is included in the subgroup of patients with PDC or PDAC. Although the definitive diagnosis of EGCCS requires demonstration of specific chromosome 12 ab- normalities, the diagnosis is highly probable when the tumor shows germ cell histology with or without ele- vated serum levels of human chorionic gonadotropin (HCG) or alpha-fetoprotein (AFP). We report the rare case of a young male patient with suspected EGCCS presenting with an orbital mass and high levels of gastrointestinal cancer tumor markers in whom the initial diagnosis was metastatic PDC. Case report A 35-year-old man was referred to us in April 1992. His disease had begun in September 1991 when he no- ticed a left orbital tumor. A tumor excisional biopsy was performed in February 1992, and histologic diag- nosis was PDC. When referred to us, he presented superior vena ca- va syndrome. The testes were normal, and no other remarkable clinical data were found. His blood profile was normal, but the tumor markers were as follows: U/mL; AFP, 1.1 ng/mL; {3-HGC, mU/mL. Cranial computed tomography scan (CTS) showed an orbital mass (Fig. 1), and thoracic CTS showed mediastinal lymph node enlargement. Abdominopelvic CTS and testicular ultrasound were normal. A mediastinoscopy with biopsy evidenced a right paratracheal mass, whose histologic diagnosis was PDC. The patient was then submitted to mediastinal radiotherapy, with con- sequent prompt improvement of his symptoms. CEA, 1075 ng/mL; CA19-9, 3292 U/mL; CASO, 156 Fig. 1 - CT scan showing the left orbital mass. To whom correspondence should be addressed: Juan Jesus Cruz Hernandez, MD, PhD. Hospital Universitario de Salamanca, Paseo de San Vincente sin, Salamanca 37007, Spain. Tel. (23) 291316 - Fax (23) 291131. Received October 18, 1994; accepted March 6, 1995 378