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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
DC Field | Value | Language |
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dc.contributor.author | Han, Bogyeong | - |
dc.contributor.author | Lee, Juhwan | - |
dc.contributor.author | Kwak, Yoon Jin | - |
dc.contributor.author | Kim, Hyun-Young | - |
dc.contributor.author | Lee, Kwang Hoon | - |
dc.contributor.author | Shim, Yumi | - |
dc.contributor.author | Lee, Hyunju | - |
dc.contributor.author | Park, Sung-Hye | - |
dc.date.accessioned | 2021-09-27T05:19:57Z | - |
dc.date.available | 2021-09-27T14:25:29Z | - |
dc.date.issued | 2021-08-31 | - |
dc.identifier.citation | Diagnostic Pathology. 2021 Aug 31;16(1):83 | ko_KR |
dc.identifier.issn | 1746-1596 | - |
dc.identifier.uri | https://hdl.handle.net/10371/174893 | - |
dc.description.abstract | Background
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in TSC1 and TSC2, including exonic, intronic, or mosaic mutations. 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. Case presentation 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 TSC2 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 TSC2 (chr16:2126489, C > G). Conclusion Our case suggests that intron retention by a single nucleotide intronic mutation of TSC2 is sufficient to develop severe manifestations of TSC, but the development of LAM requires an additional somatic oncogenic mutationof TSC2. | ko_KR |
dc.description.sponsorship | This work was supported by IITP grant funded by the Korean government (MSIP) (No.2019-0567). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Intron retention | - |
dc.subject | Lymphangioleiomyomatosis | - |
dc.subject | Germline mutation | - |
dc.subject | Somatic mutation | - |
dc.subject | Perivascular epithelioid cell tumor (PEComa) | - |
dc.subject | Tuberous sclerosis complex | - |
dc.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 | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 한보경 | - |
dc.contributor.AlternativeAuthor | 이주환 | - |
dc.contributor.AlternativeAuthor | 곽윤진 | - |
dc.contributor.AlternativeAuthor | 김현영 | - |
dc.contributor.AlternativeAuthor | 이광훈 | - |
dc.contributor.AlternativeAuthor | 심유미 | - |
dc.contributor.AlternativeAuthor | 이현주 | - |
dc.contributor.AlternativeAuthor | 박성혜 | - |
dc.identifier.doi | 10.1186/s13000-021-01138-8 | - |
dc.citation.journaltitle | Diagnostic Pathology | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2021-09-05T03:12:41Z | - |
dc.citation.number | 1 | ko_KR |
dc.citation.startpage | 83 | ko_KR |
dc.citation.volume | 16 | ko_KR |
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