Fig. 1
From: A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome
A genogram and clinicopathological features of the subject family with PJS. A Pedigree of the family with PJS. Roman numerals indicate generations and Arabic numbers indicate individuals. Squares = males, and circles = females. Filled and unfilled symbols denote affected and unaffected individuals, respectively. Slash indicates decedent. The proband is indicated by an arrow. B Endoscopic, histopathological, and radiologic imaging signs exhibited by the proband’s grandfather. Upleft, endoscopy showed polyps in the sigmoid colon; upper right, representative hematoxylin–eosin-stained tissue slices of the polyp specimens confirm hamartomatous polyps (left, × 40 magnification; right, × 100 magnification); middle, contrast enhanced CT and MRI, MRCP of lesions in the liver; bottom, well-differentiated adenocarcinoma in the hilar bile duct, nerve invasion, and focal invasion into the liver tissue were consistent with the pathology of cholangiocarcinoma (left, × 40 magnification; right, × 100 magnification). C PJS signs exhibited by the proband’s mother. Up, pigmentation on the lips, face, fingers, and feet; middle, contrast enhanced CT showed that the small intestine and mesentery gathered in a round shape, presenting a ‘target sign’; MPR showed that two moderately uneven and round enhanced masses were seen in the duodenal cavity; bottom, gastrointestinal tract polyps of the sigmoid colon and histopathology (left, × 40 magnification; right, × 100 magnification). D Signs exhibited by the proband and her brother. Upleft, pigmentation on the proband’s lips, oral mucosa, and fingers; upper right, pigmentation on the lower lip of the proband’s brother; bottom left, gastrointestinal endoscopy images showed polyps in the ascending colon; bottom right, histology of the resected polyps in the proband, with features of a juvenile polyp (left, × 40 magnification; right, × 100 magnification)