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Item A Case of Metastatic Basal Cell Carcinoma (BCC) With Spinal and Pulmonary Metastases Treated With Vismodegib, Sonedigib, and Radiotherapy(Springer Nature, 2022-03-17) Samia, Arthur M.; Nenow, Joseph M.; Boyer, Philip; Medicine, School of MedicineBasal cell carcinoma (BCC) is the most common malignancy worldwide and has one of the most favorable prognoses due to its tendency to remain local. Clinical presentation with rare distant metastases significantly increases morbidity and mortality. Historically, no effective therapies have existed for locally advanced or metastatic BCC. Recent research highlights the possibility of treating patients with advanced and metastatic BCC with hedgehog pathway inhibitors, such as vismodegib or sonedigib. We present the case of a 62-year-old male with a history of a large left shoulder lesion, which was diagnosed as a nodulocystic BCC following biopsy and histopathologic examination. The primary lesion was managed with surgical excision, and his ensuing metastatic disease was treated with vismodegib, sonedigib, tumor debulking, and radiation therapy. Magnetic resonance imaging and computed tomography of the chest revealed probable metastases to the apical segment of the left upper lobe and thoracic spine, leading to spinal stenosis and probable cause of the patient's ataxia and paresthesias. Due to the ability of BCCs to transform during metastasis, it is impossible to identify the nature of metastatic lesions (i.e., basaloid, squamous, or hybrid) without biopsy. In this case report, we review the etiologies, typical demographics, presentation patterns, and treatment regimens for metastatic BCC and the possibility of metastatic disease transforming to squamous or hybrid variants.Item MammOnc-DB, an integrative breast cancer data analysis platform for target discovery(Research Square, 2024-09-26) Varambally, Sooryanarayana; Karthikeyan, Santhosh Kumar; Chandrashekar, Darshan; Sahai, Snigdha; Shrestha, Sadeep; Aneja, Ritu; Singh, Rajesh; Kleer, Celina; Kumar, Sidharth; Qin, Zhaohui; Nakshatri, Harikrishna; Manne, Upender; Creighton , Chad; Surgery, School of MedicineBreast cancer (BCa) is one of the most common malignancies among women worldwide. It is a complex disease that is characterized by morphological and molecular heterogeneity. In the early stages of the disease, most BCa cases are treatable, particularly hormone receptor-positive and HER2-positive tumors. Unfortunately, triple-negative BCa and metastases to distant organs are largely untreatable with current medical interventions. Recent advances in sequencing and proteomic technologies have improved our understanding of the molecular changes that occur during breast cancer initiation and progression. In this era of precision medicine, researchers and clinicians aim to identify subclass-specific BCa biomarkers and develop new targets and drugs to guide treatment. Although vast amounts of omics data including single cell sequencing data, can be accessed through public repositories, there is a lack of user-friendly platforms that integrate information from multiple studies. Thus, to meet the need for a simple yet effective and integrative BCa tool for multi-omics data analysis and visualization, we developed a comprehensive BCa data analysis platform called MammOnc-DB (http://resource.path.uab.edu/MammOnc-Home.html), comprising data from more than 20,000 BCa samples. MammOnc-DB was developed to provide a unique resource for hypothesis generation and testing, as well as for the discovery of biomarkers and therapeutic targets. The platform also provides pre- and post-treatment data, which can help users identify treatment resistance markers and patient groups that may benefit from combination therapy.Item Oral Floor and Gingival Metastasis of Cholangiocarcinoma: A Case Report and Review of the Literature(Hindawi, 2014) Nakanishi, Yukihiro; Xu, Bo; LeVea, Charles; Pathology and Laboratory Medicine, School of MedicineThe oral cavity is very unusual site of metastases even though wide spread metastatic disease may be present. The most common primary sites that metastasize to the oral cavity are lung, kidney, breast, and hepatocellular carcinoma. We present a rare case of a 77-year-old Caucasian female with metastasis from a cholangiocarcinoma to the oral floor contiguous with lingual gingival mucosa. The patient presented with left sided rib pain. A CT scan of the chest, abdomen, and pelvis showed multiple pulmonary nodules and a single dominant mass in the right lobe of the liver. This tumor was 6.5 cm with multiple satellite lesions surrounding it. The liver biopsy was diagnostic of a moderately to poorly differentiated adenocarcinoma, consistent with a primary cholangiocarcinoma. After undergoing one cycle of gemcitabine chemotherapy, the patient noticed an extremely rapidly growing mass involving her right lower gingiva and the entire right floor of her mouth. The biopsy of that mass also showed a moderately to poorly differentiated adenocarcinoma. The gingival tumor had a similar cytomorphology and immunophenotype as her cholangiocarcinoma. Therefore, an unusual site for metastatic cholangiocarcinoma was confirmed.