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<p>This report describes a pediatric patient with acquired sea-blue histiocytosis (SBH) and refractory immune thrombocytopenia (ITP) who harbors a heterozygous variant in <i>TSC2</i> (p.Arg1713His). The child failed to respond to conventional first-line therapies for ITP but achieved rapid platelet normalization within 1 months of sirolimus initiation. Regression of SBH was observed at 3 months post-treatment. The identification of the TSC2 variant, along with the dramatic resolution of both SBH and thrombocytopenia upon sirolimus therapy, suggests a possible association between TSC2-related mTOR pathway dysregulation, sea-blue histiocytosis, and thrombocytopenia.</p>

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Sea-blue histiocytosis and thrombocytopenia successfully treated with an mTORC1 inhibitor: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月9日

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  • Hongmin Li,
  • Jie Ma,
  • Yu Hu,
  • Jingyao Ma,
  • Guoqing Liu,
  • Yunyun Wei,
  • Chao Yang,
  • Runhui Wu

摘要

This report describes a pediatric patient with acquired sea-blue histiocytosis (SBH) and refractory immune thrombocytopenia (ITP) who harbors a heterozygous variant in TSC2 (p.Arg1713His). The child failed to respond to conventional first-line therapies for ITP but achieved rapid platelet normalization within 1 months of sirolimus initiation. Regression of SBH was observed at 3 months post-treatment. The identification of the TSC2 variant, along with the dramatic resolution of both SBH and thrombocytopenia upon sirolimus therapy, suggests a possible association between TSC2-related mTOR pathway dysregulation, sea-blue histiocytosis, and thrombocytopenia.