Advanced Dermatology and Aesthetic Medicine, Chicago, Illinois, United States
Research
Angiosarcoma of the scalp and paraneoplastic encephalopathy: Multidisciplinary approach to diagnosis and treatment
Author(s): Zachary Wendland*, Noah Goldfarb, Monica Rani and Elisabeth Hurliman
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 both germline DNA and tumo.. View More»
DOI:
10.35248/2332-2594.24.10(4).001-003