A Case of Metastatic Biliary Tract Cancer Diagnosed Through Identification of an IDH1 Mutation.

A Case of Metastatic Biliary Tract Cancer Diagnosed Through Identification of an IDH1 Mutation. Oncologist. 2018 Oct 23;: Authors: Kamath SD, Lin X, Kalyan A Abstract The role of next-generation sequencing from either circulating tumor DNA (ctDNA) or formalin-fixed paraffin-embedded (FFPE) tissue to identify therapeutically targetable genomic alterations has been well established. Genomic profiling may also have untapped potential as a diagnostic tool in cases in which traditional immunohistochemistry assays cannot establish a clear histologic diagnosis. Expanding the number of histologies with unique genomic signatures or alterations is critical in this setting. Here we describe a case of a 73-year-old man who presented with a duodenal mass extending to the liver and peritoneal carcinomatosis, initially thought to be metastatic duodenal adenocarcinoma. Subsequent genomic profiling of ctDNA and FFPE tissue revealed an IDH1 mutation, which is rare in duodenal adenocarcinoma but common in biliary tract cancers (BTCs). This finding prompted a second biopsy, which revealed pancreaticobiliary adenocarcinoma. The clinical significance of IDH mutations in terms of their molecular specificity to certain histologies is reviewed. Recent and ongoing investigations into IDH inhibitors for advanced and metastatic BTCs are also discussed. KEY POINTS: This case demonstrates a novel use of next-generation sequencing as a diagnostic tool to modify a primary cancer diagno...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research

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Conclusion.A significant subset of patients with mPDAC can achieve long‐term survival (≥18 months) in 2018. We identified low NLR as a significant prognostic factor associated with long‐term survival in mPDAC.Implications for Practice.Metastatic pancreatic ductal adenocarcinoma (mPDAC) is one of the most lethal types of cancer. A subset of patients with mPDAC can achieve long‐term survival (≥18 months) with a modern chemotherapy regimen, such as FOLFIRINOX or gemcitabine/nab‐paclitaxel. We identified low neutrophil‐to‐lymphocyte ratio (NLR) as a significant prognostic factor associated with long‐term su...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Gastrointestinal Cancer Source Type: research
CONCLUSION: A significant subset of patients with mPDAC can achieve long-term survival (≥18 months) in 2018. We identified low NLR as a significant prognostic factor associated with long-term survival in mPDAC. IMPLICATIONS FOR PRACTICE: Metastatic pancreatic ductal adenocarcinoma (mPDAC) is one of the most lethal types of cancer. A subset of patients with mPDAC can achieve long-term survival (≥18 months) with a modern chemotherapy regimen, such as FOLFIRINOX or gemcitabine/nab-paclitaxel. We identified low neutrophil-to-lymphocyte ratio (NLR) as a significant prognostic factor associated with long-term survival...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
Conclusions: This meta-analysis demonstrated that CD44 overexpression might be an unfavorable prognostic factor for CRC patients and could be used to predict poor differentiation, lymph node metastasis and distant metastasis. Introduction Although therapies for colorectal cancer (CRC) has improved in recent years, colorectal cancer is still the third most common cause of cancer related death worldwide (1). Metastasis are observed in 25% of patients at initial diagnosis and approximately 50% of patients will develop metastasis (2). Presently, the outcome prediction and the therapy schedule determination of CRC patie...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
AbstractThe role of next‐generation sequencing from either circulating tumor DNA (ctDNA) or formalin‐fixed paraffin‐embedded (FFPE) tissue to identify therapeutically targetable genomic alterations has been well established. Genomic profiling may also have untapped potential as a diagnostic tool in cases in which traditional immunohistochemistry assays cannot establish a clear histologic diagnosis. Expanding the number of histologies with unique genomic signatures or alterations is critical in this setting. Here we describe a case of a 73‐year‐old man who presented with a duodenal mass extending to the liver and ...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Hepatobiliary, Precision Medicine, Cancer Diagnostics and Molecular Pathology, Gastrointestinal Cancer Precision Medicine Clinic: Molecular Tumor Board Source Type: research
Purpose The aim of this study was to evaluate 18F-FDG PET/CT compared with conventional imaging techniques in the clinical management of patients with locally advanced gastric cancer (LAGC). Methods A prospective study between January 2010 and December 2011 in patients with suspected LAGC was conducted in our hospital. 18F-FDG PET/CT, contrast-enhanced CT (CECT), endoscopic ultrasound, and laparoscopy were performed in all cases. Standard whole-body 18F-FDG PET/CT images were obtained centered on the stomach at 1 and 2 hours after injection of 4.0 MBq/kg of 18F-FDG. Findings were confirmed by histopathology or by imag...
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Original Articles Source Type: research
We present an in vivo imaging model for brain tumors using human cancer cell lines, including the EGFR‐L858R/T790M‐positive H1975 lung adenocarcinoma cells, the NUGC4 hepatocyte growth factor (HGF)‐dependent gastric cancer cells, and the KM12SM colorectal cancer cells containing the TPM3‐NTRK1 gene fusion. We investigated the efficacy of targeted drugs by comparison with their effect in extracranial models, and found that the same multikinase inhibitory drug can display different efficacies in brain tumor models containing different drivers. Therefore, our in vivo imaging model for brain tumors may prove useful for...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: Original Research Source Type: research
We report the first case of mixed adenocarcinoma and SCC occurring i n the third part of duodenum (D3). Our patient, a 64-year-old female with history of GERD, hypertension, and IDDM presented with 4 weeks of nausea, vomiting, and abdominal pain. Tomographic imaging of her abdomen demonstrated a distended stomach and a proximal duodenum with narrow caliber changes at the level of D3. An EGD revealed a tight stricture at D3 that could not be traversed. Stricture biopsies revealed duodenal mucosa with two small foci of SCC (positive for p63 and CK5/6) and adenocarcinoma (positive for CK7 and Moc31). Peritoneal metastases wer...
Source: Case Reports in Gastroenterology - Category: Gastroenterology Source Type: research
Endoscopy DOI: 10.1055/s-0043-109021For pancreatic solid lesions, ESGE recommends performing endoscopic ultrasound (EUS)-guided sampling as first-line procedure when a pathological diagnosis is required. Alternatively, percutaneous sampling may be considered in metastatic disease.Strong recommendation, moderate quality evidence.In the case of negative or inconclusive results and a high degree of suspicion of malignant disease, ESGE suggests re-evaluating the pathology slides, repeating EUS-guided sampling, or surgery.Weak recommendation, low quality evidence.In patients with chronic pancreatitis associated with a pancreati...
Source: Endoscopy - Category: Gastroenterology Authors: Tags: Guideline Source Type: research
Conclusion: The M-staging of the multidisciplinary team conference without staging laparoscopy lacks accuracy concerning peritoneal carcinomatosis. Staging laparoscopy remains an essential part of the preoperative detection of disseminated disease in patients with gastric- and gastroesophageal cancer.
Source: Scandinavian Journal of Surgery - Category: Surgery Authors: Tags: Original Articles Source Type: research
CONCLUSION: More extended cytoreductive surgery is needed in case of peritoneal carcinimatosis from ovarian cancer. In case of PC from mucinous adenocarcinoma of the appendix, it's difficult to calculate the extent of the disease and avoid unnecessary surgical excisions. More data is needed to confirm the above. KEY WORDS: Cytoreductive surgery, Gallbladder, HIPEC, Peritoneal carcinomatosis, Round ligament of the liver. PMID: 26344805 [PubMed - in process]
Source: Annali Italiani di Chirurgia - Category: Surgery Tags: Ann Ital Chir Source Type: research
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