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Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an extremely rare manifestation of TSC, with few reported cases. Herein, we aimed to determine the driver mutation, pathogenesis, and relationship of germline and somatic mutations of LAM through whole-genome sequencing (WGS) of the tumor and blood samples and whole transcriptome sequencing (WTS) analysis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A nine-year-old girl with a full-blown TSC presented with abdominal masses detected during a routine check-up. Resected intestinal masses were diagnosed as LAM by thorough pathological examination. Interestingly, the LAM presented a somatic <jats:italic>TSC2<\/jats:italic> gene mutation in exon 24 (p.R905W, c.C2713T), and the patient had intron retention by a novel germline mutation in the intron region of <jats:italic>TSC2<\/jats:italic> (chr16:2126489, C\u2009&gt;\u2009G).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our case suggests that intron retention by a single nucleotide intronic mutation of <jats:italic>TSC2<\/jats:italic> is sufficient to develop severe manifestations of TSC, but the development of LAM requires an additional somatic oncogenic mutation\u00a0of <jats:italic>TSC2<\/jats:italic>.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13000-021-01138-8","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T10:02:46Z","timestamp":1630404166000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review"],"prefix":"10.1186","volume":"16","author":[{"given":"Bogyeong","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juhwan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoon Jin","family":"Kwak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwang Hoon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Shim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyunju","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8681-1597","authenticated-orcid":false,"given":"Sung-Hye","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"1138_CR1","doi-asserted-by":"publisher","first-page":"6085","DOI":"10.1073\/pnas.97.11.6085","volume":"97","author":"T Carsillo","year":"2000","unstructured":"Carsillo T, Astrinidis A, Henske EP. 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All experiments were performed in accordance with the guidelines and regulations of the Helsinki and Human Research Protection Program.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Since the patient suffers from mental retardation, informed consent was obtained from her father for the donation of the patient\u2019s human body materials. Since this study was a retrospective review of medical records, use donated bank samples and only analysis of disease-related alteration, informed consent for publication was waivered by IRB and in accordance with the Korean Bioethics Act and Biosafety Act. Personal identification was anonymized by the tissue bank and the authors never contact the patient or parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors do not have any conflicts of interest to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"83"}}