{"id":2126,"date":"2025-11-27T16:42:32","date_gmt":"2025-11-27T16:42:32","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2126"},"modified":"2026-02-22T00:15:04","modified_gmt":"2026-02-22T00:15:04","slug":"acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/11\/27\/acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum\/","title":{"rendered":"ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum (Contributed by Kevin Van Compernolle, on behalf of co-authors Jacques Van Huysse, Kathleen Claes, Ellen Denayer, Marie Bex, and Annick Van den Bruel)"},"content":{"rendered":"

Lynch syndrome is a genetic condition associated with tumours of the colon, reproductive organs, and urinary tract. Less commonly, neuro-endocrine tumours have also been reported. We describe the first case of a Lynch syndrome patient presenting with a neuroendocrine lung tumour manifesting as cortisol excess (Cushing\u2019s syndrome) in a middle-aged woman.<\/p>\n

In addition to the germline MLH1 splice site mutation, genetic analysis revealed a complete gene deletion of MLH1 as somatic second hit, confirming the tumor\u2019s link to Lynch syndrome. Furthermore, we provide a comprehensive review of the existing literature on neuroendocrine tumors occurring in Lynch syndrome. (https:\/\/jmg.bmj.com\/content\/early\/2025\/11\/23\/jmg-2025-110900<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Lynch syndrome is a genetic condition associated with tumours of the colon, reproductive organs, and urinary tract. Less commonly, neuro-endocrine tumours have also been reported. We describe the first case of a Lynch syndrome patient presenting with a neuroendocrine lung tumour manifesting as cortisol excess (Cushing\u2019s syndrome) in a middle-aged woman. In addition to the […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2126","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum (Contributed by Kevin Van Compernolle, on behalf of co-authors Jacques Van Huysse, Kathleen Claes, Ellen Denayer, Marie Bex, and Annick Van den Bruel) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/11\/27\/acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum (Contributed by Kevin Van Compernolle, on behalf of co-authors Jacques Van Huysse, Kathleen Claes, Ellen Denayer, Marie Bex, and Annick Van den Bruel) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Lynch syndrome is a genetic condition associated with tumours of the colon, reproductive organs, and urinary tract. Less commonly, neuro-endocrine tumours have also been reported. We describe the first case of a Lynch syndrome patient presenting with a neuroendocrine lung tumour manifesting as cortisol excess (Cushing\u2019s syndrome) in a middle-aged woman. 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