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Biology subjects

Rubio, M. T.

Publications and source records attributed to Rubio, M. T..

2 recordsLinked to original sources

Scalable expansion of human iNKT cells: single-cell profiling and in vivo control of GvHD with preserved GvL activity

Invariant natural killer T (iNKT) cells can limit graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation (HSCT), but their scarcity in peripheral blood limitstherapeutic development. Current clinical-grade human iNKT expansion protocols mainly rely on IL-2, require prior iNKT-cell sorting, last 6-8 weeks, and predominantly expand CD4+ iNKT cells, whereas human CD4- iNKT cells are more strongly associated with GVHD control in patients and uniquely regulate antigen-presenting cells and T-cell activation. We developed a scalable culture system to preferentially expand human CD4- iNKT cells directly from total peripheral blood mononuclear cells (PBMCs) using alpha galactosylceramide (-GalCer) and optimized cytokine conditions. IL-15 was the most effective cytokine. The optimized 14-day protocol generated a mean of 3.8x107 iNKT cells from 2x107 PBMCs, including 74% CD4- iNKT cells. Single-cell transcriptomic profiling identified eight major iNKT subsets, differentiation trajectories during expansion, and distinct IL-2- versus IL-15-associated transcriptional programs. IL-15-expanded iNKT cells induced apoptosis of monocyte-derived dendritic and leukemic cells in vitro, controlled xeno-GVHD, and preserved graft-versus-leukemia (GVL) activity in preclinical mouse models. This platform enables reproducible production of human CD4- iNKT cells at clinically relevant scale and position IL-15-expanded iNKT cells as a compelling immunotherapy candidate for allo-HSCT.

immunology↗

Genomic and Immunogenomic Profiling of Extramedullary Acute Myeloid Leukemia Reveals Actionable Clonal Branching and Frequent Immune Editing

Extramedullary acute myeloid leukemia (eAML) is a rare form of myeloid neoplasm characterized by leukemic infiltration outside the bone marrow (BM). Despite its prognostic significance, eAML is often underdiagnosed and poorly characterized at molecular level. We performed a comprehensive genomic and immunogenomic profiling on paired BM and extramedullary specimens from 26 eAML patients, alongside over 400 AML cases without extramedullary involvement and 97 healthy controls. Clonal branching from BM was observed in 38.5% of extramedullary sites, frequently involving actionable mutations in FLT3, IDH2 and NPM1 genes. Both compartments were enriched in RAS pathway mutations and class II HLA losses, suggesting active immunoediting mechanisms driving eAML development. Strikingly all relapsed cases acquired FLT3 aberrations, highlighting therapeutic opportunities. These findings underpin the need for improved detection and routine genomic profiling, including targeted sequencing of suspected extramedullary lesions.

genomics↗