Analysis of the loss of phosphatase and tensin homolog expression in thyroid tissue for the diagnosis of Cowden syndrome.

BACKGROUND: Cowden syndrome is an autosomal-dominant disorder caused by a germline phosphatase and tensin homolog mutation, giving rise to several tumors with an aggressive clinical course. In the thyroid, there are certain histologic criteria that could be related to this syndrome that could be useful for its early detection. We sought to analyze the loss of phosphatase and tensin homolog in thyroid histologic pieces with certain histologic criteria and to determine the percentage of patients diagnosed with Cowden syndrome with this methodology. METHODS: Five hundred thirty-five thyroid specimens collected were retrospectively analyzed (2017-2020). Those samples that presented certain histologic criteria were studied for loss of phosphatase and tensin homolog expression. Patients with loss of expression underwent a clinical study to rule out dermatologic or other lesions compatible with Cowden syndrome. Patients with positive clinical study were referred for genetic study. RESULTS: The phosphatase and tensin homolog study was performed in 6.7% (n = 36) of the thyroidectomy samples, showing loss of expression in 22% (n = 8); the most frequent histologic finding was the presence of multiple monomorphous adenomatous nodules. The samples with loss of expression showed more diffuse oncocytic changes. Of the 8 patients with loss of expression, 5 showed dermatologic lesions that could be associated with Cowden syndrome and 1 had a history of macrocephaly. These patients were referred for genetic study, being positive for Cowden syndromein in one quarter of the cases (n = 2). CONCLUSION: The immunohistochemical study of phosphatase and tensin homolog in pieces of thyroidectomies with histologic criteria suggestive of Cowden syndrome can help in its early diagnosis.

[Severe lower gastrointestinal tract bleeding due to diverticulosis]. / Hemorragia digestiva baja grave de origen diverticular.

INTRODUCTION: Diverticulosis is the most frequent cause of lower gastrointestinal (GI) bleeding in adults in western countries. The aims of the present study were to analyze: 1) the diagnostic and therapeutic management of patients with severe lower GI bleeding due to diverticulosis; 2) associated morbidity and mortality; 3) the need for surgery, and 4) bleeding recurrence rates after hospital discharge. MATERIAL AND METHODS: Were retrospectively reviewed 42 patients with severe lower GI bleeding due to diverticulosis. Patients with rectorrhagia requiring transfusion of at least three packed red blood cell units and those with a decrease in hematocrit of 10 points or more were included. As a control group, we used 133 patients with severe lower GI hemorrhage due to causes other than colonic diverticular disease. RESULTS: All patients were stabilized with conservative measures except one who required emergency surgery. Colonoscopy was performed in 39 patients and the most frequent finding consisted of recent signs of bleeding independently of whether colonoscopy was performed early or was delayed. Endoscopic treatment with Argon laser electrocoagulation was performed in one patient. Bleeding recurrence after hospital discharge occurred in 13 patients (31%); of these, seven (16%) required hospital readmission. CONCLUSION: Severe lower GI bleeding due to diverticulosis can usually be resolved with conservative treatment although the percentage of bleeding recurrence is high. Early endoscopy is not as important as in the remaining causes of severe lower GI bleeding.