Department of Pathology, Anatomy and Laboratory Medicine, West Virginia University School of Medicine, Morgantown, West Virginia, United States
Case Report
Synchronous Cancers: Acute Myeloid Leukemia and Pancreatic Ductal Adenocarcinoma with Germline Heterozygous DDX41 and MUTYH Mutations in a Patient from Appalachia, United States
Author(s): Bhavana Bhatnagar, Christen Jordan, Cara Randall, Andrew Gordon, Christinea Marino, Angela Burrie and Ashkan Emadi*
A diagnosis of synchronous cancers within the same individual poses a multitude of diagnostic and treatment-related challenges. Many of these challenges pertain to the vast heterogeneity in cancers and presentations, patient ineligibility for clinical trials, lack of standardized guidelines to direct management and an incomplete understanding of the molecular mechanisms that contribute to the development of these cancers. We present a case of concurrent diagnoses of Pancreatic Ductal Adenocarcinoma (PDAC) and Acute Myeloid Leukemia (AML) with a comprehensive mutational analysis of the pancreatic tumor, AML blasts, and germline DNA collected from cultured skin fibroblast samples. In addition to some commonly detected mutations (e.g. KRAS Gly12Asp in PDAC and TP53 Met237lle in AML), the genetic testing revealed the presence of DDX41 and MUTYH gene mutations in.. View More»