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Approach to a Mass of Unknown Significance Location Kinetics Systemic Manifestations Differential Diagnosis of an Anterior Mediastinal Mass Thymoma Germ Cell Tumor/Teratoma Lymphoma Differential Diagnosis of an Anterior Mediastinal Mass Shipp M et al. N Engl J Med 2005;352:1697-1704 Differential Diagnosis of an Anterior Mediastinal Mass Malignancy Infection Granulomatous Disease Benign Tumors Others Our Patient Familial Adenomatous Polyposis (FAP) Autosomal Dominant Disease High penetrance (almost ~100) Mean age of onset 16 100-1,000s of colonic polyps Average age of colon cancer is 39 Accounts for ~1% of all colorectal cancers Genetics of FAP •Classic FAP caused by mutation in APC gene •Accounts for 90% of cases •Discovered at Johns Hopkins by Kenneth Kinzler and Bert Vogelstein •Genetic Test commercially available FAP Unaffected Management of FAP •Surveillance with annual colonoscopies •Colectomy is recommended when polyps are large, dysplastic or with villous histology •Patients with small and/or sparse polyps can be followed and schedule colectomy after graduation from High School Total proctocolectomy with ileoanal pouch Subtotal colectomy with ileorectoal anastomsosis Classic Metastatic Colon Cancer to Lung Extracolonic Malignancies in FAP patients Malignancy Absolute Lifetime Risk (%) Colon 100 Duodenum 3.0–5.0 Thyroid 2.0 Brain (Meduloblastoma) 2.0 Ampullary 1.7 Pancreas 1.7 Hepatoblastoma 1.6 Gastric 0.6* DESMOID TUMORS Benign Slow Growing Tumors Develop in 10-15% of patients with FAP Typically intra-abdominal and arise at sites of trauma (ie Surgery) Composed of spindle cells and abundant fibrous stroma Final Differential Diagnosis Atrial Myxoma Indolent Lymphoma Proliferative Fibrosing Mediastinitis DIAGNOSIS Desmoid Tumor arising in site of Surgical trauma (CABG in 2002) in a patient with FAP