RESUMEN
In this case report, we describe a patient who developed metastatic liver cancer of unknown primary origin one year following the surgical removal of a retroperitoneal adenocarcinoma. The retroperitoneal adenocarcinoma is considered a malignant transformation of teratoma (MTT), given the patient's distant history of testicular tumor excised 25 years prior and treated with chemotherapy. Despite no primary tumor being identified, the leading primary hypothesis is that the liver metastasis stemmed from the resected retroperitoneal adenocarcinoma from one year prior. We theorize that the patient's cisplatin-based chemotherapy 25 years ago may have triggered the MTT, as documented in the existing literature. Using TEMPUS gene testing on both the retroperitoneal adenocarcinoma and the recently discovered liver metastasis, we identified several genes with variants of unknown significance (VUS) that could potentially be linked to cisplatin chemotherapy resistance. While we cannot conclude that this patient definitively underwent MTT, it remains the most plausible explanation. Future research should investigate both the validity of the genes we have uncovered with respect to cisplatin resistance, as well as other genes associated with cisplatin resistance to further understand the pathogenesis of cisplatin resistance for better prediction of treatment response. As the world of medicine shifts towards individualized therapies and precision medicine, reporting and analyzing genetic mutations derived from tumors remains imperative. Our case report aims to contribute to the growing database of defined mutations and underscores the immense potential of genetic analysis in directing personalized treatment options.
RESUMEN
Teratoma is a common germ cell tumor that affects young adult males. A small number of testicular teratomas have the potential for malignant transformation along endodermal, ectodermal, or mesodermal lines. The metastatic mixed germ cell tumor we reported consists of the primitive neuroectodermal tumor (PNET) with mature teratoma. PNET is a highly aggressive tumor with a poor prognosis given its poor response to standard platinum-based chemotherapy. The primary treatment for PNET is surgical resection. Malignant transformation of teratoma to PNET is a rare phenomenon. Only a few cases of malignant transformation of teratomas to PNET are reported in the literature. Here, we present a rare case of PNET arising in a malignant mixed germ cell tumor in a 23-year-old male who underwent adjuvant adriamycin, cyclophosphamide (VAC) alternating with ifosfamide and etoposide (IE) chemotherapy and retroperitoneal lymph node dissection.
RESUMEN
Introduction: Germ cell tumor with malignant transformation is extremely rare. We present a case of testicular primitive neuroectodermal tumor with multiple metastases that was effectively managed by surgery, irradiation, and second-line chemotherapy. Case presentation: A 22-year-old man was diagnosed as having teratoma including primitive neuroectodermal tumor with lymph node and multiple bone metastases. Five months afterwards the first-line therapy, his skull metastasis recurred. Vincristine, doxorubicin, and cyclophosphamide therapy followed by vincristine, actinomycin D, and cyclophosphamide therapy was given as second-line chemotherapy. Computed tomography revealed no disease progression 3 months after the treatments. Conclusion: Metastatic primitive neuroectodermal tumor may be successfully managed by multidisciplinary cancer treatment.
RESUMEN
Malignant transformation of teratoma develops in a small subset of testis cancer patients. Primitive neuroectodermal tumor represents a highly malignant component of testicular germ cell tumors. It is a rare clinical entity which is characterized by a high risk of disease progression and death. Surgical resection plus chemotherapy appears to be the therapy of choice.
