Brain Metastases as Presenting Feature in 'Burned Out' Testicular Germ Cell Tumor

Abstract

Testicular germ cell tumors (TGCTs) are the most common malignancy in males aged 20 to 39, and the incidence is increasing. TGCTs have a tendency to grow rapidly with a high risk of metastatic spread. TGCTs generally present with a palpable testicular mass, yet may present less commonly with symptoms arising from metastatic disease. A 24-year-old otherwise healthy male presented with progressive headaches. Initial imaging reported a single mass in the right frontal lobe. Complete surgical resection revealed suspicion for metastatic poorly differentiated carcinoma with an inconclusive immunohistochemical profile. Further staging scans revealed pulmonary and pelvic tumor deposits. Tumor markers with alpha-fetoprotein, beta-human chorionic gonadotropin, and lactate dehydrogenase were not elevated. Follow-up cranial magnetic resonance imaging revealed intracranial disease progression and he underwent whole brain radiation therapy. Additional outside pathology consultation for chromosomal analysis revealed features consistent with a TGCT. A scrotal ultrasound revealed a minimally atrophic right testicle. With evidence supporting the potential for response to chemotherapeutic treatment in TGCT, the patient was started on cisplatin and etoposide. Bleomycin was planned for the second cycle of chemotherapy if his pulmonary function improved. A salient feature of all invasive TGCTs is a gain in material in the short arm of chromosome 12, and is diagnostic if present. Although the initial pathology revealed a non-diagnostic metastatic tumor, further testing revealed amplification of chromosome 12p. The examination of poorly differentiated carcinomas of an unknown primary site using light microscopy and immunohistochemical profiling alone may be inadequate, and should undergo molecular chromosomal analysis.This case is presented for its unconventional presentation and rarity of occurrence. It brings forward the discussion of both the commonality of TGCT in young male adults, as well as the anomaly of a 'burned out' phenomenon. With unreliable tumor markers, nonspecific symptoms, and pathological findings, ‘burned out’ TGCTs may account for a challenging diagnosis in a variety of cases, especially with the presenting symptom arising from a less common metastatic site. This case adds to the increasing literature on a rare entity of the 'burned out' TGCT, and upon literature review, presents itself as the first reported case presenting with brain metastasis.

Burned-out Post Pubertal Teratoma Presenting as a Liver Metastases in a 34-Year-Old Male

“…It may be difficult to determine the source of metastasis when the testicular tumor is totally regressed (5) Here we discuss a case of post-pubertal teratoma with 'burned out' component presenting as multiple liver masses. The importance of this case is related to the rare presentation of this phenomenon and the importance of carrying out a systematic testicular ultrasound examination in case of metastasis in a young man.…”

‘Burned‑out’ syndrome of testicular teratoma: A case report

“…One such case of regression is the so-called ‘burned-out’ testicular tumor. This is a TGCT that has regressed without intervention, and usually presents as metastasis to other sites (manifesting as secondary symptoms), such as the retroperitoneal and mediastinal regions ( 5 ). This occurrence of metastasis can present as raised tumor markers and as a dubious ultrasound image for the testis.…”

The decisive role of molecular pathology in presumed somatic metastases of type II testicular germ cell tumors: report of 2 cases

“…However, the amplified region in pancreatic carcinomas is located proximal to the amplified region in TGCT [10]. Therefore, in the right context, 12p gain or a 12p isochromosome variant is diagnostic for TGCT [11].…”