{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:09:23Z","timestamp":1753870163262,"version":"3.41.2"},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to respiratory compromise. Pulmonary LAM has been identified as being associated with tuberous sclerosis complex (TSC) in its pulmonary manifestation (TSC\u2010LAM), a multisystem genetic disorder resulting from mutations in either the <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic> genes. Herein, we describe an early 20s female admitted to the hospital with dyspnea, chest pain, hypopigmented macules, and facial fibroadenomas. She has a medical history of renal angiomyolipomas (ALMs) and pneumothoraces. Diagnosis with LAM was confirmed through high\u2010resolution computed tomography (HRCT) scan and histopathology of lung biopsy. Whole exome sequencing analysis identified a frameshift mutation c.4504del (p.L1502Cfs*74) in the patient's <jats:italic>TSC2<\/jats:italic> gene. This variant was de novo due to its absence in the patient's parents. This is the first report on the clinical and genetic etiology of TSC\u2010LAM in Vietnam.<\/jats:p>","DOI":"10.1002\/rcr2.1346","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T11:31:41Z","timestamp":1712662301000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Tuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of <scp><i>TSC2<\/i><\/scp> gene in Vietnam: A case report"],"prefix":"10.1002","volume":"12","author":[{"given":"Dinh","family":"Van Luong","sequence":"first","affiliation":[{"name":"Lung Transplant Center National Lung Hospital  Hanoi Vietnam"},{"name":"Tuberculosis and Lung Diseases Department Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Le Ngoc","family":"Huy","sequence":"additional","affiliation":[{"name":"Lung Transplant Center National Lung Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Xuan","family":"Giang","sequence":"additional","affiliation":[{"name":"Lung Transplant Center National Lung Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Huu Hong","family":"Thu","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Hai","family":"Ha","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Huy","family":"Binh","sequence":"additional","affiliation":[{"name":"Lung Transplant Center National Lung Hospital  Hanoi Vietnam"},{"name":"Physiology Department Hanoi Medical University  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00228-9"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.12-2813"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0348-2020"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2003.11.007"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2022.02.075"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.21542"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200208-969OC"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1346","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T03:34:39Z","timestamp":1714016079000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.1346"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/rcr2.1346"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.1346","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"2024-02-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e01346"}}