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

Pediatr Blood Cancer. 2021 Jun;68(6):e28960. doi: 10.1002/pbc.28960. Epub 2021 Mar 10.

Affiliations

¹ Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
² Department of Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan.
³ Department of Orthopedic Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

PMID: 33694273
DOI: 10.1002/pbc.28960

No abstract available

Keywords: TP53; TSC2; mTOR inhibitor; osteosarcoma; tuberous sclerosis complex.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Angiofibroma / complications
Angiomyolipoma / complications
Astrocytoma / complications
Child
Female
Germ-Line Mutation / genetics*
Humans
Mutation, Missense / genetics
Osteosarcoma / drug therapy
Osteosarcoma / genetics*
Tuberous Sclerosis / genetics*
Tuberous Sclerosis Complex 2 Protein / genetics*
Tumor Suppressor Protein p53 / genetics*

Substances

TP53 protein, human
TSC2 protein, human
Tuberous Sclerosis Complex 2 Protein
Tumor Suppressor Protein p53