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Biology subjects

HASSAN, A. B.

Publications and source records attributed to HASSAN, A. B..

2 recordsLinked to original sources

Tumour neoantigen repertoire prediction in malignant peripheral nerve sheath tumours define private and public targets for immunotherapy

Malignant peripheral nerve sheath tumours (MPNSTs) are high grade soft-tissue sarcomas with an unmet need for novel therapies. Tumour antigen-based approaches, including neoantigen and tumour-associated antigens (TAA) directed therapies, offer potential opportunities for immunotherapy. Here, we integrated public domain tumour DNA and RNA sequencing data with in-silico predictions in order to characterise the potential (neo)antigenic landscape of MPNST. We stratified the computational predictions across the two known sub-groups of MPNST, those associated without and with Polycomb Repressor Complex 2 (PRC2) loss of function variants (PRC2-Loss). Using pVACtools, computationally identified high-confidence neoantigens based on predicted pMHC affinity were derived from somatic mutations and gene fusions, as well as recurrently overexpressed cell-surface TAAs. All predicted neoantigens were private to individual MPNST cases and across both tumour subtypes. Using ImSig and CIBERSORTx, PRC2-Loss tumours displayed reduced immune infiltration with downregulation of antigen processing and presentation pathways compared to PRC2-WT, confirming known intrinsic constraints to effective neoantigen-directed immune priming. Moreover, PRC2-Loss MPNSTs demonstrated recurrent copy number driven overexpression of cell surface TAAs derived from chromosome 8 amplification, providing potential immunotherapeutic targets that are pMHC independent. Overall, these predictive findings confirm a PRC2-independent private immuno-antigenic peptide repertoire, with an immune resistant MPNST microenvironment in PRC-Loss. These data provide further impetus for personalised functional validation and immune based treatment strategies, including personalised neoantigen vaccines and cell surface protein TAA-directed therapies dependent on PRC2 status.

cancer biology↗

Id1, Spp1 and Pak3 are biomarkers of Smad4 and TGF-β1 dependency in conditional intestinal adenoma, organoids and colorectal cancer.

TGF-{beta} ligand activation suppresses cell growth yet can paradoxically and potently promote cancer invasion and metastasis depending on downstream pathway mutational context. Here, we evaluated the basis of this observation in conditional murine intestinal adenoma models with and without loss of Mothers against decapentaplegic homolog 4 (Smad4), with the aim of identifying TGF-{beta}-BMP-SMAD4 pathway dependent gene expression biomarkers for translational application. Conditional Lgr5-CreERT2 activation in Apcfl/flSmad4fl/flresulted in adenoma formation with recombined homozygote floxed alleles (Apc{Delta}/{Delta}Smad4{Delta}/{Delta}). The adenoma phenotype was discordant, with a reduced small intestinal adenoma burden yet development of large non-metastatic caecal adenoma with nuclear localisation of phospho-Smad2/3. Derived Apc{Delta}/{Delta}Smad4{Delta}/{Delta} adenoma organoids resisted TGF-{beta}1 dose dependent growth arrest and cell death (IC50 534pM) compared to Apc{Delta}/{Delta}Smad4+/+ (IC 24pM). TGF-{beta}1 (390pM) modified adenoma mRNA expression (bulk RNA-Seq) most significantly for Id1low and Spp1high in Apc{Delta}/{Delta}Smad4{Delta}/{Delta}. Single cell RNAseq of caecal adenoma identified expansion of Lgr5low, Pak3high and Id1low progenitor populations in Apc{Delta}/{Delta}Smad4{Delta}/{Delta}. Of the 76 Smad4 and TGF-{beta}1 dependent genes identified in adenoma organoids, 7 human equivalent genes were also significantly differentially expressed in colorectal cancer, including ID1low, SPP1high and PAK3high that also correlated with poorer survival (TCGA cohorts). Murine conditional models identified Smad4 loss of function mRNA expression biomarkers that require further evaluation as functional classifiers of colorectal cancer subtypes.

cancer biology↗