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LPD Associated with Epstein–Barr Virus Infection
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Primary immunodeficiencies are a group of heterogeneous disorders with immune system abnormalities that confer susceptibility to recurrent infections, autoimmunity, lymphoproliferation, granulomatous process, atopy, and malignancy [2]. Out of approximately 250 primary immunodeficiencies recognized so far, a small subgroup is associated with mutations in the genes that encode proteins involved in B cell development and/or function. These primary immunodeficiencies compromise the function of cytotoxic lymphocytes through alterations in TCR signaling (RasGRP1, ZAP70, PI3 K, ITK), actin cytoskeleton arrangements (CORO1A, WASP), co-stimulation (LRBA, MAGT1), leukocyte development (GATA2, MCM4), lymphocyte cell death (XIAP, STK4, CTPS1), and cytotoxic effector (CD16, NKG2D, SLAM receptors like 2B4, CD27), allowing effective EBV control of B cells and subsequent development of a spectrum of clinical manifestations (including the development of lymphomas), that are collectively referred to as EBV-driven LPD or LPD associated with EBV infection (Figure 75.1) [3].
Proteogenomic biomarkers in colorectal cancers: clinical applications
Published in Expert Review of Proteomics, 2020
Margherita Binetti, Augusto Lauro, Samuele Vaccari, Maurizio Cervellera, Valeria Tonini
Ten years ago [81], a meta-analysis provided a list of CRC-associated tissue proteins discovered in multiple studies, employing tandem mass spectrometry. The authors stated that up to year 2010, only a limited number of CRC-associated proteins were validated in serum for noninvasive testing in CRC. The situation has changed ten years later, at least from the laboratory point of view: the screening has been implemented by finding novel biomarkers able to recognize either the predisposition or the early stage of the disease, potentially improving the survival rate. In a recent meta-analysis of the literature [82], MST1/STK4 (Mammalian STE20-like protein kinase 1/Serine threonine kinase 4) showed a sensitivity of 68% and a specificity of 78%; S100A9 (S100 calcium-binding protein A9) achieved a sensitivity of 72% and a specificity of 83%; and TIMP1 (Tissue inhibitor of metalloproteinases 1) obtained a sensitivity of 42% and a specificity of 88%. MST1/STK4, S100A9, and TIMP1 showed diagnostic efficiency and excellent performance for CRC detection by means of a simple blood sample, but their widespread clinical application is still far away.
miRNA and long non-coding RNA: molecular function and clinical value in breast and ovarian cancers
Published in Expert Review of Molecular Diagnostics, 2018
Konstantina Panoutsopoulou, Margaritis Avgeris, Andreas Scorilas
Focusing on lncRNAs, H19 is highly expressed in ALDH1-positive patient groups, highlighting its association with cell stemness and the poor survival of TNBC patients [111]. Moreover, increased HOTTIP expression is positively correlated with tumor size, lymph node status, and TNM stage and has been proposed as an independent predictor of BC patients worse OS and recurrence-free survival [112]. On the contrary, superior prognostic value has been attributed to LINC00472, as higher expression levels have been reported in BC patients with tumors of lower stage, grade and size, while also being correlated with better DFS and OS. This favorable clinical significance of LINC00472 in BC is in accordance with in vitro findings of BC-cell-inhibited proliferation rate and invasiveness following LINC00472 transfection [113]. Finally, in ER-positive BC, a six lncRNA-panel, including HAGLR, STK4-AS1, DLEU7-AS1, LINC00957, LINC01614, and ITPR1-AS1, has been evaluated by TCGA (The Cancer Genome Atlas) as an independent and powerful prognostic marker for the accurate prediction of BC patients 3- and 5-year OS expectancy [114].
Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS)
Published in Critical Reviews in Clinical Laboratory Sciences, 2021
Laura Casamayor-Polo, Marta López-Nevado, Estela Paz-Artal, Alberto Anel, Frederic Rieux-Laucat, Luis M. Allende
STK4 deficiency (OMIM 614868) is caused by AR mutations in the STK4 gene. This syndrome is characterized by recurrent bacterial, viral, and fungal infections, heart disease, and autoimmune manifestations. Patients also show EBV-associated B-lymphoproliferative disorder, CD4 T-cell lymphopenia, hypergammaglobulinemia (including IgG, IgA, and IgE), and reduced T cell activation [88].