Malignant Perivascular Epitheloid Cell Tumor with an Unusual Immunophenotype in a Ten-Year-Old Child

Jonjić, Nives; Roganović, Jelena; Glavan, Nedeljka; Hadžisejdić, Ita; Seili-Bekafigo, Irena

doi:10.1080/15513815.2019.1604923

Cited by 2 publications

(2 citation statements)

References 15 publications

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“…There are two identified subtypes: sporadic-LAM (S-LAM) and TSC-related LAM (TSC-LAM). Both are induced by TSC1 or, more commonly, TSC2 gene mutations [ 8 ]. The gastrointestinal (GI) tract is a rare site for LAM.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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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 mutation of TSC2.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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“…Both are induced by TSC1 or, more commonly, TSC2 gene mutations. 8 The gastrointestinal (GI) tract is a rare site for LAM. By employing WGS and transcriptome studies, we detected germline intronic and somatic TSC2 gene mutations in this patient.…”

Section: Introductionmentioning

confidence: 99%

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

Han

Lee

Kwak

et al. 2021

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Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder 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 mutation.

show abstract

Malignant Perivascular Epitheloid Cell Tumor with an Unusual Immunophenotype in a Ten-Year-Old Child

Cited by 2 publications

References 15 publications

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

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

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

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