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Kaoru Kuroda
Kaoru Kuroda

Public Documents 1
A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline...
Kaoru Kuroda
Kunihiko Moriya

Kaoru Kuroda

and 10 more

March 30, 2022
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 and somatic TP53 mutation in osteosarcoma with tuberous sclerosis. This case is unique and suggestive of a TSC2-dependent genetic pathway through mTOR signaling and a second-hit model for oncogenesis.

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