RESUMO
Breast cancer (BC) is a heterogeneous disease. Numerous chemotherapeutic agents are available for early stage or advanced/metastatic breast cancer to provide maximum benefit with minimum side effects. However, the clinical outcome of patients with the same clinical and pathological characteristics and treated with similar treatments may show major differences and a vast majority of patients still develop treatment resistance and eventually succumb to disease. It remains an unmet need to identify specific molecular defects, new biomarkers to enable clinicians to adopt individualized treatment for every patient in terms of endocrine, chemotherapy or targeted therapy which will improve clinical outcomes in BC. Our study aimed to identify frequent hotspot mutation profile in BC by targeted deep sequencing in cancer-related genes using Illumina Truseq amplicon/Swift Accel-Amplicon panel and MiSeq technology in an IRB-approved prospective study in a CLIA compliant laboratory. All the cases had pathology review for stage, histological type, hormonal status and Ki-67. Data was processed using Strand NGS™. Mutations identified in the tumor were assessed for 'actionability' i.e. response to therapy and impact on prognosis.
RESUMO
Bone metastasis is a rare entity in germ cell tumor of testis and is a poor prognostic site. It is usually associated with synchronous metastasis at other sites. Till now very few cases of isolated bone metastasis of germ cell tumor of testis have been reported but none have reported scapular metastasis. We are reporting a case of nonseminomatous germ cell tumor of right testis that was operated eight months ago and now presented with isolated scapular metastasis. Histopathology of the scapular tissue revealed rhabdomyosarcoma or poorly differentiated synovial sarcoma. Immunohistochemistry with serum markers concluded it to be metastatic germ cell tumor. To the best of our knowledge this is the first reported case of scapular metastasis of testicular germ cell tumor. This case is being reported here due to dilemmatic way of presentation and also to emphasize that histopathology may sometimes misguide and immunohistochemistry is necessary in such cases.