{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:27:00Z","timestamp":1760956020441,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,3,16]]},"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:p>Lynch syndrome has been associated with predominantly colorectal, endometrial, and ovarian cancer. We report hereby an unusual case of thymic carcinoma in a patient with Lynch syndrome. A 45-year-old Caucasian woman with a personal history of Lynch syndrome (MLH1 heterozygous mutation) presented with dyspnea, chest pain, and dysphagia. CT chest showed a bulky anterior mediastinal mass, pulmonary nodules, and pericardial effusion. Lung biopsy demonstrated a poorly differentiated carcinoma with squamous features with extensive necrosis, favouring thymic origin. Genomic studies on the tumour revealed deficient mismatch repair status with a two-copy deletion of MLH1 at 3p22.2 and c-Kit mutation. She received carboplatin and paclitaxel, with initial clinical improvement, but then died within 3\u2009months after diagnosis. This case highlights that thymic cancer may be one of the malignancies associated with Lynch syndrome, and MLH1 gene mutation may have a role in the pathogenesis of thymic cancer.<\/jats:p>","DOI":"10.1136\/bcr-2019-230241","type":"journal-article","created":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T05:55:14Z","timestamp":1586411714000},"page":"e230241","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Thymic cancer in lynch syndrome: an unusual association"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3252-9094","authenticated-orcid":false,"given":"Deepali","family":"Pandey","sequence":"first","affiliation":[{"name":"Internal Medicine, Saint Vincent Hospital, Worcester, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David Scott","family":"Shepro","sequence":"additional","affiliation":[{"name":"Hematology\/Oncology, Saint Vincent Hospital, Worcester, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,4,8]]},"reference":[{"key":"2025082708363609000_13.4.e230241.1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1055\/s-0032-1313781","article-title":"Extracolonic manifestations of Lynch syndrome","volume":"25","author":"Bansidhar","year":"2012","journal-title":"Clin Colon Rectal Surg"},{"key":"2025082708363609000_13.4.e230241.2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1055\/s-0028-1089941","article-title":"Extracolonic manifestations of hereditary colorectal cancer syndromes","volume":"21","author":"Anaya","year":"2008","journal-title":"Clin Colon Rectal Surg"},{"key":"2025082708363609000_13.4.e230241.3","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1179\/joc.2006.18.4.433","article-title":"Stage Ib malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil","volume":"18","author":"Tampellini","year":"2006","journal-title":"J Chemother"},{"key":"2025082708363609000_13.4.e230241.4","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1182\/blood.V89.5.1740","article-title":"Mutations and loss of expression of a mismatch repair gene, hMLH1, in leukemia and lymphoma cell lines","volume":"89","author":"Hangaishi","year":"1997","journal-title":"Blood"},{"doi-asserted-by":"publisher","key":"2025082708363609000_13.4.e230241.5","DOI":"10.1002\/gcc.20536"},{"key":"2025082708363609000_13.4.e230241.6","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s12253-016-0144-8","article-title":"Molecular profiling of thymoma and thymic carcinoma: genetic differences and potential novel therapeutic targets","volume":"23","author":"Enkner","year":"2017","journal-title":"Pathol Oncol Res"},{"doi-asserted-by":"crossref","unstructured":"Jiang Y , Liu Y , Shi X , et al . An unusual combined thymic carcinoma composed of squamous cell carcinoma and type AB thymoma: a rare case report. 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