{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T23:43:57Z","timestamp":1773445437689,"version":"3.50.1"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,1,3]]},"abstract":"<jats:sec>\n            <jats:title>Rationale:<\/jats:title>\n            <jats:p>Adenoid cystic carcinoma (AdCC) is an invasive head and neck malignancy characterized by unpredictable growth, extensive perineural invasion, a high rates of metastasis, and poor survival rates. Genetic alterations, including <jats:italic toggle=\"yes\">MYB-NFIB<\/jats:italic> and <jats:italic toggle=\"yes\">MYBL1-NFIB<\/jats:italic> fusions, and mutations within the Notch signaling and DNA damage repair pathways, have been identified.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Patient concerns:<\/jats:title>\n            <jats:p>A 58-year-old female presented with a space-occupying lesion of the anterior cranial fossa floor during a physical examination and sought further consultation in July 2022.<\/jats:p>\n            <jats:p>In our case, a 58-year-old woman was incidentally found to have an anterior cranial fossa lesion during a routine physical examination, which was subsequently confirmed as AdCC following postoperative immunohistochemistry.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Diagnoses:<\/jats:title>\n            <jats:p>Based on these imaging and histopathological findings, a diagnosis of AdCC was established. Integrating the genetic test results, the case was diagnosed as MYB or MYBL1 fusion-negative AdCC. This case report highlights a rare molecular signature of <jats:italic toggle=\"yes\">ERCC2<\/jats:italic> and <jats:italic toggle=\"yes\">BRCA2<\/jats:italic> inactivation in AdCC, in the absence of <jats:italic toggle=\"yes\">MYB<\/jats:italic> or <jats:italic toggle=\"yes\">MYBL1<\/jats:italic> fusions.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Interventions:<\/jats:title>\n            <jats:p>The patient underwent postoperative radiotherapy (RT) to the primary site approximately 2.5 months postsurgery. The concurrent presence of germline ERCC2 and somatic BRCA2 mutations offers novel insights into potential treatment strategies for this rare malignancy.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Outcomes:<\/jats:title>\n            <jats:p>To date, no recurrence has been observed during follow-up.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Lessons:<\/jats:title>\n            <jats:p>We found a novel germline <jats:italic toggle=\"yes\">ERCC2<\/jats:italic> mutation and somatic <jats:italic toggle=\"yes\">BRCA2<\/jats:italic> mutation in a patient with AdCC. Our findings expand the molecular landscape of rare <jats:italic toggle=\"yes\">MYB<\/jats:italic> or <jats:italic toggle=\"yes\">MYBL1<\/jats:italic> fusion-negative AdCC patients and provide a potential therapeutic strategy for this rare head and neck tumor.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000041233","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T14:07:43Z","timestamp":1736258863000},"page":"e41233","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Exploring potential treatment opportunities in a head and neck tumor patient with AdCC: A novel germline ERCC2 mutation case report"],"prefix":"10.1097","volume":"104","author":[{"given":"Yuanhao","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, First Hospital of Jilin University, Changchun, Jilin Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiantian","family":"Han","sequence":"additional","affiliation":[{"name":"The State Key Laboratory of Neurology and Oncology Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didi","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Nanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongsheng","family":"Chen","sequence":"additional","affiliation":[{"name":"The State Key Laboratory of Neurology and Oncology Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2199-8618","authenticated-orcid":false,"given":"Yunqian","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, First Hospital of Jilin University, Changchun, Jilin Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20250909","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1038\/ng.2643","article-title":"The mutational landscape of adenoid cystic carcinoma.","volume":"45","author":"Ho","year":"2013","journal-title":"Nat Genet"},{"key":"R2-20250909","doi-asserted-by":"crossref","first-page":"105945","DOI":"10.1016\/j.oraloncology.2022.105945","article-title":"Current opinions on diagnosis and treatment of adenoid cystic carcinoma.","volume":"130","author":"Fang","year":"2022","journal-title":"Oral Oncol"},{"key":"R3-20250909","doi-asserted-by":"crossref","first-page":"3691","DOI":"10.3390\/cancers14153691","article-title":"Rearrangements, expression, and clinical significance of MYB and MYBL1 in adenoid cystic carcinoma: a multi-institutional 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