Objective response to mTOR inhibition in a metastatic collision tumor of the liver composed of melanoma and adenocarcinoma with TSC1 loss: a case report

Abstract

BackgroundCollision tumors are uncommon but well described clinical entities composed of distinct tumor histologies occurring within the same anatomic site. Optimal management of patients with collision tumors remains highly variable and depends on clinical characteristics such as the involved tumor types, predominant histology, as well as the extent of disease. Comprehensive genomic profiling is a means of identifying genomic alterations to suggest benefit from targeted therapy.Case presentationA 78-year-old woman presented to medical oncology with liver metastases occurring within the background of a 1-year history of uveal melanoma. Biopsy of the liver metastases revealed presence of adenocarcinoma along with nests of malignant melanoma consistent with a collision tumor. The disease was refractory to several lines of conventional cytotoxic chemotherapy, and the patient later developed pulmonary metastases while on chemotherapy. The patient’s tumor tissue was assayed by comprehensive genomic profiling which revealed presence of a TSC1 partial loss. The patient was subsequently initiated on temsirolimus 15 mg intravenously weekly for 4 months. Restaging imaging demonstrated a partial response to therapy by RECIST 1.1 criteria and clinical benefit for 6 months until the patient passed away secondary to unrelated causes.ConclusionsWe report the first case of a collision tumor composed of adenocarcinoma and melanoma with a TSC1 mutation that objectively and durably responded to mTOR inhibition.

Comprehensive genomic profiling identifies novel NTRK fusions in neuroendocrine tumors

“…The methods used for genomic profiling have been previously described [ 15 , 16 ]. Formalin-fixed, paraffin-embedded slides or blocks from tumor samples were submitted to a Clinical Laboratory Improvement Amendments (CLIA)-certified, College of American Pathologists-accredited reference laboratory (Foundation Medicine, Cambridge, MA).…”

Case report: First case of early adenoid cystic carcinoma and squamous cell carcinoma collision cancer treated by endoscopic submucosal dissection

“…Collision cancer refers to a tumor that occurs at the same site but originates from two tissues that infiltrate each other but do not migrate to each other (1). Collision cancer has been reported in many sites of the human body, including the skin, crania, lung, bladder and uterus (2)(3)(4). In the digestive system, collision cancer mostly occurs in large digestive glands, such as the liver and pancreas (5,6).…”

Effect of Puerarin Regulated mTOR Signaling Pathway in Experimental Liver Injury

“…The pathogenesis of liver injury is extremely complicated; however, it is known that the mammalian target of rapamycin (mTOR) signaling pathway plays an important role in the development of liver injury. The pathways related to mTOR signaling in the pathogenesis of hepatopathies include the LKB1/AMPK/mTOR metabolic axis, PI3K/AKT/mTOR and Bcl-2/Bax-mediated apoptosis/autophagy, and ERK/mTOR-mediated autophagy, the AKT/mTOR/c-Myc axis, NF-κB/mTOR signaling and TSC/mTOR signaling ( Bhangoo et al, 2017 ; Chang et al, 2017 ; Li et al, 2017 ; Wang et al, 2017 ; Hu et al, 2018 ; Majd et al, 2018 ; Wei et al, 2018 ).…”