: A novel gene fusion in malignant melanoma

Oncogenic gene fusions have been identified in many cancers, and many serve as druggable targets for therapy. Fibroblast growth factor receptor (FGFR) gene aberration is known to be associated with tumor progression and resistance to anticancer therapy. Here we report the first case of malignant melanoma harboring a FGFR3-TACC3 (transforming acidic coiled-coil containing protein 3) fusion, which appears to be a promising potential therapeutic target

Molecular Subgroup Analysis of Clinical Outcomes in a Phase 3 Study of Gemcitabine and Oxaliplatin with or without Erlotinib in Advanced Biliary Tract Cancer

AbstractBACKGROUND: We previously reported that the addition of erlotinib to gemcitabine and oxaliplatin (GEMOX) resulted in greater antitumor activity and might be a treatment option for patients with biliary tract cancers (BTCs). Molecular subgroup analysis of treatment outcomes in patients who had specimens available for analysis was undertaken. METHODS: Epidermal growth factor receptor (EGFR), KRAS, and PIK3CA mutations were evaluated using peptide nucleic acid–locked nucleic acid polymerase chain reaction clamp reactions. Survival and response rates (RRs) were analyzed according to the mutational status. Sixty-four patients (48.1%) were available for mutational analysis in the chemotherapy alone group and 61 (45.1%) in the chemotherapy plus erlotinib group. RESULTS: 1.6% (2/116) harbored an EGFR mutation (2 patients; exon 20), 9.6% (12/121) harbored a KRAS mutation (12 patients; exon 2), and 9.6% (12/118) harbored a PIK3CA mutation (10 patients, exon 9 and 2 patients, exon 20). The addition of erlotinib to GEMOX in patients with KRAS wild-type disease (n = 109) resulted in significant improvements in overall response compared with GEMOX alone (30.2% vs 12.5%, P = .024). In 95 patients with both wild-type KRAS and PIK3CA, there was evidence of a benefit associated with the addition of erlotinib to GEMOX with respect to RR as compared with GEMOX alone (P = .04). CONCLUSION: This study demonstrates that KRAS mutational status might be considered a predictive biomarker for the response to erlotinib in BTCs. Additionally, the mutation status of PIK3CA may be a determinant for adding erlotinib to chemotherapy in KRAS wild-type BTCs

HER2, estrogen receptor-negative metastatic hidradenocarcinoma: identification of TP53 mutation in both primary and cell-free DNA

Hidradenocarcinoma is an extremely rare cutaneous skin carcinoma which arise from the sweat gland. There are several report about potential targets in this rare disease including estrogen receptor (ER) and human epidermal growth factor receptor 2 (HER2). A 53-year-old man who presented with a slowly growing mass on the left thumb which was pathologically confirmed of HER2 negative, ER negative hidradenocarcinoma. At the time of presentation, the patient had metastatic lesions to lung and axillary lymph nodes. The patient received several lines of palliative chemotherapy and radiotherapy, but died of the disease progression. We identified TP53 G245S mutation in both primary tumor specimen and cell-free based targeted sequencing. Herein, we report on a very rare case of metastatic hidradenocarcinoma with TP53 G245S mutation but no other treatable targets from clinical sequencing, which pursued an aggressive clinical course

Intraductal Tubular Carcinoma of the Pancreas: a Case Report with the Imaging Findings

We describe here a case of intraductal tubular carcinoma of the main pancreatic duct. Gadolinium-enhanced pancreas magnetic resonance (MR) imaging showed an enhancing mass that was confined in the dilated main pancreatic duct of the pancreatic body, along with dilatation of the upstream main pancreatic duct and chronic pancreatitis that was due to obstruction. MR cholangiopancreatography and an endoscopic retrograde pancreatogram showed a filling defect that was due to an intraductal mass of the pancreatic body, along with dilatation of the upstream main pancreatic duct and no dilatation of the downstream main pancreatic duct. The pathological findings demonstrated an intraductal nodular appearance without papillary projection or mucin hypersecretion

Pancreatic serous cystadenocarcinoma with invasive growth into the colon and spleen

Serous cystic neoplasms of the pancreas are almost always benign lesions. However, there are some case reports of malignant serous neoplasms of the pancreas. It is very difficult to distinguish malignant and benign tumors. Indeed, only clinicopathologic findings of locoregional invasion and metastasis represent a malignancy. We report a serous cystadenocarcinoma of the pancreas that was initially considered to be colon cancer. Post-operatively, the tumor was confirmed to be a malignant serous cystic tumor of the pancreas. One year later, the patient remains disease-free

Bronchus-Associated Lymphoid Tissue (BALT) Lymphoma of the Lung Showing Mosaic Pattern of Inhomogeneous Attenuation on Thin-section CT: A Case Report

The authors present a case of histologically proven bronchus-associated lymphoid tissue (BALT) lymphoma of the lung in a patient with primary Sjögren's syndrome that manifested on thin-section CT scan as a mosaic pattern of inhomogeneous attenuation due to mixed small airway and infiltrative abnormalitie