RESUMEN
Testicular cancer is a rare disease; however, cure rates are high for all tumor stages. Mostly, the disease is diagnosed in an early (local) stage. We report the case of a 47-year-old male patient with a giant nonseminomatous germ cell tumor. At the time of diagnosis, the patient demonstrated a necrotizing and ulcerating growing mass in the left scrotum with an approximate size of 22 × 18 cm. According to the prognostic classification of the International Germ Cell Cancer Collaborative Group (IGCCCG 1997), the patient exhibited a high-risk profile due to alpha-fetoprotein >10,000 ng/mL and lactate dehydrogenase >10× the upper limit of normal in serum. Primary orchiectomy was infeasible due to the tumor's size, the patient's poor general condition and initial intensive care unit treatment. Primary systemic chemotherapy was applied. After 3 cycles of cisplatin, etoposide and bleomycin, along with 1 cycle of cisplatin, etoposide and ifosfamide, tumor resection with histomorphological examination showed a complete pathological response. Despite the delayed initiation of the therapy, primary chemotherapy was completed timely and showed promising results. Reasons for the late hospitalization were personal responsibilities regarding his family. Better awareness and knowledge of testicular cancer among young men might prevent the here reported delay of medical consultation and avoid testicular tumors of such enormous size. Psychosocial assessment and distress management is important as an integral part of comprehensive care of testicular cancer patients.
RESUMEN
Background: In the era of precision medicine, cancer treatment is increasingly tailored according to tumor-specific genomic alterations. The analysis of tumor-derived circulating nucleic acids in cerebrospinal fluid (CSF) by next generation sequencing (NGS) may facilitate precision medicine in the field of CNS cancer. We therefore evaluated whether NGS from CSF of neuro-oncologic patients reliably detects tumor-specific genomic alterations and whether this may help to guide the management of patients with CNS cancer in clinical practice. Patient and methods: CSF samples from 27 patients with various primary and secondary CNS malignancies were collected and evaluated by NGS using a targeted, amplicon-based NGS-panel (Oncomine Focus Assay). All cases were discussed within the framework of a molecular tumor board at the Comprehensive Cancer Center Munich. Results: NGS was technically successful in 23/27 patients (85%). Genomic alterations were detectable in 20/27 patients (74%), 11/27 (40%) of which were potentially actionable. After discussion in the MTB, a change of therapeutic management was recommended in 7/27 (26%) of the cases. However, due to rapid clinical progression, only 4/27 (15%) of the patients were treated according to the recommendation. In a subset of patients (6/27, 22%), a high number of mutations of unknown significance suggestive of a high tumor mutational burden (TMB) were detected. Conclusions: NGS from cerebrospinal fluid is feasible in routine clinical practice and yields therapeutically relevant alterations in a large subset of patients. Integration of this approach into a precision cancer medicine program might help to improve therapeutic options for patients with CNS cancer.