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Hereditary Cancer Syndromes—A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes  N. Jewel Samadder, MD, MSc, Noemi Baffy,

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Presentation on theme: "Hereditary Cancer Syndromes—A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes  N. Jewel Samadder, MD, MSc, Noemi Baffy,"— Presentation transcript:

1 Hereditary Cancer Syndromes—A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes  N. Jewel Samadder, MD, MSc, Noemi Baffy, MD, Karthik V. Giridhar, MD, Fergus J. Couch, PhD, Douglas Riegert-Johnson, MD  Mayo Clinic Proceedings  Volume 94, Issue 6, Pages (June 2019) DOI: /j.mayocp Copyright © Terms and Conditions

2 Figure 1 Familial adenomatous polyposis (FAP), characterized by the presence of hundreds or thousands of adenomatous polyps in the colon that may develop as early as adolescence. A and B, Endoscopic views of the colon show numerous polyps. C, Gross pathologic specimen showing carpeted polyposis. D, Endoscopic view of the periampullary region shows a large adenomatous polyp at the ampulla and a beardlike extension. E, Radiograph showing osteomas of the mandible (arrows). F, Fundus photograph of the eye showing one large and multiple peripheral punctiform congenital hypertrophy of the retinal pigment epithelium lesions. G, Clinical photograph of a patient with a large neck mass and multiple growths on his back (left) and magnetic resonance image showing a diffusely infiltrating soft tissue fibrous tumor involving the upper back and posterior paraspinous soft tissues (right). These images are consistent with a desmoid tumor. Mayo Clinic Proceedings  , DOI: ( /j.mayocp ) Copyright © Terms and Conditions

3 Figure 2 Cutaneous features of Lynch syndrome, including sebaceous adenomas/carcinomas and keratoacanthomas. Mayo Clinic Proceedings  , DOI: ( /j.mayocp ) Copyright © Terms and Conditions

4 Figure 3 Characteristic features of Peutz-Jeghers syndrome. A, Melanontic macules (“spots”) on the tips of the fingers of an adult patient. B, A large polyp on a thick stalk in the duodenum. When seen, the diagnosis is almost always Peutz-Jeghers syndrome. C, Photomicrograph of a polyp from a patient with Peutz-Jeghers syndrome (hematoxylin-eosin, original magnification × 10). Note fibers of smooth muscle arborizing through the polyp (arrows). All large Peutz-Jeghers syndrome polyps have this finding, but it may not be mentioned in pathology reports. Mayo Clinic Proceedings  , DOI: ( /j.mayocp ) Copyright © Terms and Conditions

5 Figure 4 Characteristic features of PTEN hamartoma syndrome. A, Papule on the face of a patient with a deletion in the PTEN gene. It was not biopsied but would be assumed to be a trichilemmoma. B, Large hyperplastic polyp seen in the colon of a patient with PTEN hamartoma syndrome during colonoscopy. This polyp was removed noninvasively with colonoscopy. Mayo Clinic Proceedings  , DOI: ( /j.mayocp ) Copyright © Terms and Conditions

6 Figure 5 Features of juvenile polyposis syndrome. A, Classic juvenile polyposis syndrome stomach polyps clustered around the cardia and bleeding. B, Photomicrograph of a polyp from a patient with juvenile polyposis syndrome (hematoxylin-eosin, original magnification × 10). Note the large mucin-filled cyst with inflammatory background. Mayo Clinic Proceedings  , DOI: ( /j.mayocp ) Copyright © Terms and Conditions

7 Mayo Clinic Proceedings 2019 94, 1099-1116DOI: (10. 1016/j. mayocp
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