{"id":1037,"date":"2025-11-23T17:01:50","date_gmt":"2025-11-23T17:01:50","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=83cacf26851f7819fc0b9ca114706c42"},"modified":"2026-01-20T14:16:17","modified_gmt":"2026-01-20T14:16:17","slug":"acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/23\/acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum\/","title":{"rendered":"ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum"},"content":{"rendered":"\n<p>Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour development. We describe the case of a middle-aged female patient with LS with a known germline <I>MLH1<\/I> mutation who was diagnosed with Cushing&rsquo;s syndrome. An ectopic adrenocorticotropic hormone (ACTH) producing carcinoid tumour of the lung with lymph node metastases was found and resected. Immunohistochemical analysis showed loss of <I>MLH1\/PMS2<\/I> expression, and genetic analysis confirmed a deletion of the entire <I>MLH1<\/I> gene, acting as the second hit for tumour formation. This provides unequivocal evidence of the tumour&rsquo;s association with LS. Only 30 cases of NETs in LS have been described in the literature, most of them of gastrointestinal origin. We describe the first bronchopulmonary NET in a patient with LS, broadening the spectrum of LS tumours, and the first ACTH-producing tumour in LS.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour development. We descr&#8230;<\/p>\n","protected":false},"author":220,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[83],"class_list":["post-1037","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1037","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/220"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1037"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1037\/revisions"}],"predecessor-version":[{"id":6816,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1037\/revisions\/6816"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1037"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1037"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1037"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}