An update on genetic aberrations in T-cell neoplasms

Parilla, Megan; Quesada, Andres; Medeiros, L. Jeffrey; Thakral, Beenu

doi:10.1016/j.pathol.2022.12.350

Cited by 5 publications

(3 citation statements)

References 144 publications

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“…MYH9, a 230 kDa cytoskeletal protein, participates in several vital cellular processes such as cell adhesion, migration, and signalling (22)(23)(24). Numerous studies have reported that MYH9 affects the haematopoietic system, leading to impaired bone marrow haematopoiesis (25)(26)(27)(28). Human MYH9 gene mutations are associated with a group of autosomal dominant disorders, collectively known as MYH9-related disorders, which are characterised by thrombocytopenia (29).…”

Section: Discussionmentioning

confidence: 99%

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Cao,

Zhu,

et al. 2023

Front. Immunol.

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ObjectivePrimary immune thrombocytopenia (ITP) is the most common acquired autoimmune bleeding disorder among children. While glucocorticoids are the primary first-line treatment for ITP treatment, they prove ineffective in certain patients. The challenge of identifying biomarkers capable of early prediction regarding the response to glucocorticoid therapy in ITP persists. This study aimed to identify ideal biomarkers for predicting glucocorticoid efficacy in patients with ITP using plasma proteomics.MethodsA four-dimensional data-independent acquisition approach was performed to determine the differentially expressed proteins in plasma samples collected from glucocorticoid-sensitive (GCS) (n=18) and glucocorticoid-resistant (GCR) (n=17) children with ITP treated with prednisone. The significantly differentially expressed proteins were selected for enzyme-linked immunosorbent assay validation in a cohort conprising 65 samples(30 healthy controls, 18 GCS and 17 GCR children with ITP). Receiver operating characteristics curves, calibration curves, and clinical decision curve analysis were used to determine the diagnostic efficacy of this method.Results47 differentially expressed proteins (36 up-regulated and 11 down-regulated) were identified in the GCR group compared with the GCS group. The significantly differentially expressed proteins myosin heavy chain 9 (MYH9) and fetuin B (FETUB) were selected for enzyme-linked immunosorbent assay validation. The validation results were consistent with the proteomics analyses. Compared with the GCS group, the GCR group exhibited a significantly reduced the plasma concentration of MYH9 and elevated the plasma concentration of FETUB. Furthermore, the receiver operating characteristics curves, calibration curves, and clinical decision curve analysis demonstrated good diagnostic efficacy of these validated biomarkers.ConclusionThis study contributes to the establishment of objective biological indicators for precision therapy in children with ITP. More importantly, the proteins MYH9 and FETUB hold potential as a foundation for making informed decisions regarding alternative treatments for drugresistant patients, thereby preventing treatment delays.

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Section: Discussionmentioning

confidence: 99%

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Cao,

Zhu,

et al. 2023

Front. Immunol.

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“…Although all or even most cases of systemic EBV + T-cell lymphoma (sEBV + TNHL) do not have specific chromosomal abnormalities, there are some common features: cases with alterations usually have complex karyotypes (3 or more chromosomal alterations), and nearly 40% of cases in the literature have add(9)(p24) [ 24 ]. In addition, variants in chromosomes 1, 7, 11, 17, 20, 21, and X are present in more than 20% of reported cases, whereas DDX3X, BCOR/BCORL2, and TET2 are present in 20% of chronic active EBV disease [ 25 , 26 ]. Chromosomal alterations associated with CAEBV in HV-LPD patients include 6q deletion or 6p gain.…”

Section: Introductionmentioning

confidence: 99%

“…PTCL-NOS cases with TP53/CDKN2A alterations show considerable chromosomal instability and a poor overall survival rate, exhibiting an inverse correlation with TFH marker expression. The majority of PTCL-NOS cases have a homozygous deletion of CDKN2A, which appears to be linked to an unfavorable prognosis [ 25 ].…”

Section: Introductionmentioning

confidence: 99%

Therapeutic challenges in peripheral T-cell lymphoma

Luan,

Li,

Luan

et al. 2024

Mol Cancer

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Peripheral T-cell lymphoma (PTCL) is a rare and heterogeneous group of hematological malignancies. Compared to our knowledge of B-cell tumors, our understanding of T-cell leukemia and lymphoma remains less advanced, and a significant number of patients are diagnosed with advanced stages of the disease. Unfortunately, the development of drug resistance in tumors leads to relapsed or refractory peripheral T-Cell Lymphomas (r/r PTCL), resulting in highly unsatisfactory treatment outcomes for these patients. This review provides an overview of potential mechanisms contributing to PTCL treatment resistance, encompassing aspects such as tumor heterogeneity, tumor microenvironment, and abnormal signaling pathways in PTCL development. The existing drugs aimed at overcoming PTCL resistance and their potential resistance mechanisms are also discussed. Furthermore, a summary of ongoing clinical trials related to PTCL is presented, with the aim of aiding clinicians in making informed treatment decisions.

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