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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
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  • Kaoru Kuroda,
  • Kunihiko Moriya,
  • Tomohiro Nakano,
  • Ryoko Saito,
  • Daichi Sato,
  • Saori Katayama,
  • Hidetaka Niizuma,
  • Munenori Watanuki,
  • Mitsugu Uematsu,
  • Yoji Sasahara,
  • Shigeo Kure
Kaoru Kuroda
Tohoku University Graduate School of Medicine

Corresponding Author:kurokurokaokao@gmail.com

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Kunihiko Moriya
Tohoku Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Tomohiro Nakano
Tohoku University
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Ryoko Saito
Tohoku University Graduate School of Medicine
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Daichi Sato
Tohoku University Graduate School of Medicine
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Saori Katayama
Tohoku Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Hidetaka Niizuma
Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574
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Munenori Watanuki
Tohoku University Graduate School of Medicine
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Mitsugu Uematsu
Tohoku University Graduate School of Medicine
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Yoji Sasahara
Tohoku University Graduate School of Medicine
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Shigeo Kure
Tohoku University Graduate School of Medicine
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Abstract

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.
Jun 2021Published in Pediatric Blood & Cancer volume 68 issue 6. 10.1002/pbc.28960