Article

A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene

2022-03-30

Abstract excerpt

We report on a 12-year-old female who developed osteosarcoma with tuberous sclerosis. Clinical sequencing of osteosarcoma tissues identified a somatic mutation in the TP53 gene and a novel germline mutation in the TSC2 gene. Pathological analysis of osteosarcoma tissue revealed increased phosphorylation of S6, a downstream target in the mTOR pathway. This is the first reported detection of a germline TSC2 mutation...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7491a1ec-a402-5d2e-86fe-15277e235a3a
DOI: 10.22541/au.164864623.33793289/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 geneDOI 10.22541/au.164864623.33793289/v1Read

Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcomaSemantic proximity Read

Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.Semantic proximity Read

Germline RET variants underlie a subset of paediatric osteosarcoma.Semantic proximity Read

Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.Semantic proximity Read

Germline TP53 variants and susceptibility to osteosarcoma.Semantic proximity Read

A novel TSC2 mutation causing tuberless tuberous sclerosis.Semantic proximity Read

Glioblastoma multiforme in a child with tuberous sclerosis complex.Semantic proximity Read

Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.Semantic proximity Read

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.Semantic proximity Read

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.Semantic proximity Read

Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish.Semantic proximity Read

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalitiesSemantic proximity Read