TPSAB1 (Tryptase Alpha/Beta 1)

The incidence of HαT is increased in mastocytosis and may exacerbate mediator-related symptoms, emphasizing the importance of searching for this genetic condition in mastocytosis. To conclude, despite remaining challenges in standardization, molecular investigations may now improve diagnostics, prognostication and treatment monitoring in mastocytosis.

This multi-omics study provides unprecedented insights into the transcriptional and epigenetic heterogeneity of t(8;21) AML, providing a potential actionable tool for clinical risk stratification.

A correlation analysis was performed between mRNA expression levels of IL-33, ST2, and TPSAB1 in relation to genes associated with decidualization; IL-33 was correlated with CD3E, GZMB, NCAM1, PRF1, RORC, SGK1, and TGFB1 in the RPL group and associated with CDKN2A, IL18, SLC2A1, and VEGFA in controls. Decreased amount of membrane-bound ST2 may lead to the decreased physiologic activity of IL-33 on immune cells within patients with RPL and RIF; this may lead to alterations in uNK cells contributing to immune dysregulation in the endometrium.

In conclusion, this study revealed increased MC density in ccRCC. Although the proportion of activated MCs was not significantly altered in ccRCC tissues compared with normal tissues, this finding highlights a shift in the MC phenotype from CTSGhighMCs to more activated VEGFA+MCs, providing a potential therapeutic target for inhibiting ccRCC progression.

P=N/A, N=3200, Recruiting, University Hospital, Toulouse | Not yet recruiting --> Recruiting

Genetic ablation and pharmacological inhibition of mast cells exacerbates TNF-induced inflammatory-erosive arthritis with decreased lymphatic clearance. Together, these findings support an inflammatory role of activated/degranulated peri-PLV mast cells during arthritic progression, and a homeostatic role of intra-PLV mast cells, in which loss of the latter dominantly exacerbates arthritis secondary to defects in joint-draining lymphatics, warranting investigation into specific cellular mechanisms.

P=N/A, N=3200, Not yet recruiting, University Hospital, Toulouse

A tryptase > 20 ng/mL serves as a minor criterion to diagnose systemic mastocytosis and an increase in tryptase > 20% + 2 during an acute event is a required criterion in the diagnosis of mast cell activation syndrome. The goal of this review is to demonstrate the (in)significance of tryptase using some clinical vignettes and to provide a practical guide on how to manage and interpret an elevated tryptase level.

Our single-well multiplex digital droplet PCR assay accurately determined HαT and could be implemented as a state-of-the-art routine diagnostic test. The assay demonstrated a strong correlation with BST and the optimal threshold for identifying HαT in symptomatic patients with unexplained high tryptase concentrations was at a BST level of 9.2 ng/mL.

In conclusion, this study finds decreased MC density in CRC compared to normal tissue, but highlights a shift in MC phenotype from CMA1 resting cells to activated TPSAB1, CPA3, and KIT cells. The elevated KITLG expression in the tumor microenvironment's fibroblasts and endothelial cells may activate MCs through the KITLG-KIT axis, potentially suppressing tumor progression.

LUAD patients in the low-risk subgroup benefited more from immunotherapy and were less sensitive to conventional chemotherapy agents. This study provides novel insights into the prognostic and immunological roles of CRs in LUAD.

P=N/A, N=3200, Not yet recruiting, University Hospital, Toulouse | Initiation date: Oct 2023 --> Dec 2023