Venkata S. Katabathina MD, Abstract Co-Author: Nothing to Disclose

Gowri Gutti MD, Presenter: Nothing to Disclose

Abhinav Suri, Abstract Co-Author: Nothing to Disclose

Sandhya Vinu-Nair, Abstract Co-Author: Nothing to Disclose

Christine O. Menias MD, Abstract Co-Author: Nothing to Disclose

Anil Kumar Dasyam MD, Abstract Co-Author: Nothing to Disclose

Review select, rare malignancies that are highly associated with hereditary cancer predisposition syndromes Discuss cytogenetic and molecular abnormalities of genetic conditions associated with these malignancies Describe cross-sectional imaging findings; role of imaging in the diagnosis & surveillance of patients and family members  

Introduction Medullary thyroid carcinoma: Multiple endocrine neoplasia 2A & B – RET proto-oncogene Carcinoid tumors: MEN 1 –  MEN 1 gene Leiomyosarcomas: Hereditary leiomyomatosis and renal cell carcinoma syndrome [fumarate hydratase gene] & Lynch syndrome [ DNA mismatch repair genes] Pheochromocytoma & Paraganglioma: Multiple endocrine neoplasia 2, von Hippel-Lindau syndrome, Neurofibromatosis type 1, Hereditary paraganglioma-pheochromocytomas, Max & TMEM127 gene mutations Adrenal cortical carcinoma: Li-Fraumeni syndrome ( p53 gene) Renal cell carcinoma – chromophobe, hybrid oncocytic, oncocytoma type: Birt-Hogg-Dube syndrome (Folliculin gene ) Fallopian tube and primary peritoneal cancers: Hereditary breast and ovarian cancer syndrome (BRCA gene) Diffuse gastric cancer: Hereditary diffuse gastric cancer syndrome (E-cadherin gene) Conclusion Awareness of  rare malignancies associated with cancer predisposition syndromes will help radiologists to suggest appropriate genetic testing

http://abstract.rsna.org/uploads/2014/14002473/14002473_ezwu.pdf

Katabathina, V, Gutti, G, Suri, A, Vinu-Nair, S, Menias, C, Dasyam, A, The Devil is in the DNA: A Comprehensive Review of Rare Malignancies that Warrant Genetic Testing.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14002473.html