Objective: To investigate the mutation rate and mutation characteristics of FBXW7 and NOTCH1 in adult T-ALL, and to study the effect of these 2 mutations on the clinical features and prognosis of patients with adult T-ALL.
Methods: The mutations of FBXW7 and NOTCH1 in 106 adult T-ALL patients were determined by gene sequencing of FBXW7 and NOTCH1 genes. and the clinical characteristics and prognosis were compared.
Results: Among the 106 cases of adult T-ALL, there were 21 cases (19.8%) of FBXW7 mutation, 66 cases (62.3%) of NOTCH1 mutation and 18 cases (17.0%) of FBXW7 / NOTCH1 double mutations. The 2-year cumulative overall survival rate and event-free survival rate of the patiants in FBXW7 / NOTCH1 double mutant group were lower than those without mutations (27.8% vs 70.3%)(P<0.01) and (16.7% vs 48.6%) ( P<0.01) respectivly, but the FBXW7 or NOTCH1 mutations had a little effect on the prognosis. The recurrence rate at mutant group was higher than that of the non - mutant group (77.8% vs 43.2%) (P<0.05).
Conclusion: FBXW7 or NOTCH1 mutations can not be as the prognostic factors, but the FBXW7 / NOTCH1 double mutations may indicate poor prognosis.
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http://dx.doi.org/10.7534/j.issn.1009-2137.2018.05.007 | DOI Listing |
Biomarkers
January 2025
Department of Gastrointestinal Medical Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Introduction: Colorectal cancer (CRC) incidence and mortality before 50 have been rising alarmingly in the recent decades.
Methods: Using a cohort of 10,000 patients, this study investigates the clinical, mutational, and co-mutational features of CRC in early-onset (EOCRC, < 50 years) compared to late-onset (LOCRC, ≥ 50 years).
Results: EOCRC was associated with a higher prevalence of Asian and Hispanic patients, rectal or left-sided tumors (72% vs.
Mod Pathol
December 2024
Department of Anaesthesia and Intensive Care Medicine, Third Faculty of Medicine, Charles University, University Hospital Kralovske Vinohrady, Prague, Czech Republic.
Penile squamous cell carcinoma (pSCC) represents an uncommon malignancy characterized by stagnant mortality, psychosexual distress, and a highly variable prognosis. Currently, the World Health Organization distinguishes between human papillomavirus (HPV)-related and HPV-independent pSCC. Recently, there has been an evolving line of research documenting the enrichment of HPV-independent pSCC with a high tumor mutational burden (TMB) and programmed death ligand-1 expression, as well as clusters of genes associated with HPV status.
View Article and Find Full Text PDFVirchows Arch
December 2024
International Head and Neck Scientific Group, Padua, Italy.
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is a cause of significant mortality and morbidity. The epidemiology of this cancer varies worldwide due to either genetic differences in populations or differences in carcinogen exposure. The application of massive parallel sequencing-based techniques in HNSCC should provide a helpful understanding of the genetic alterations that eventually lead to HNSCC development and progression, and ideally, could be used for personalized therapy.
View Article and Find Full Text PDFInt J Hematol
February 2025
Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, 1-Kawasumi, Mizuho-Ku, Nagoya, 467-8601, Japan.
Here, we investigated the clinical significance of NOTCH1 and FBXW7 alterations for adult T-cell leukemia/lymphoma (ATLL) treatment outcomes. NOTCH1 alterations were identified in 37 (14.4%) of 257 patients, of which 33 were single nucleotide variants/insertion-deletions in the PEST domain, and 7 were in the heterodimerization or LIN-12/Notch repeats domains.
View Article and Find Full Text PDFBlood
October 2024
Laboratory of Onco-Hematology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
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