ArticleAnnals of hematology2026
Sea-blue histiocytosis and thrombocytopenia successfully treated with an mTORC1 inhibitor: a case report.
Article in Annals of hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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