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Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.
Transl Pediatr
December 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.
View Article and Find Full Text PDFGenetic alterations and their prognostic impact in marginal zone lymphoma: a meta-analysis.
Ann Hematol
January 2025
Department of Hematology, Yantai Yuhuangding Hospital, No. 20 Yudong Road, Zhifu District, Yantai City, Shandong, 264000, China.
This meta-analysis aimed to assess the impact of genetic mutations, particularly in the NOTCH2 and TNFAIP3 genes, on the prognostic outcomes of Marginal Zone Lymphoma (MZL) patients. Databases, including PubMed, Embase, and Cochrane Library, were explored up to October 2023. A total of 11 studies encompassing 2,314 records were included.
View Article and Find Full Text PDFPathological variants in HPV-independent vulvar tumours.
Sci Rep
January 2025
Department of Laboratory Medicine, Clinical Pathology and Genetics, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Vulvar cancer is a rare gynaecological disease that can be caused by infection with human papillomavirus (HPV). The mutational frequencies and landscape for HPV-associated and HPV-independent vulvar tumor development are supposedly two distinctly different pathways and more detailed knowledge on target biological mechanisms for individualized future treatments is needed. The study included formalin-fixed paraffin-embedded (FFPE) samples from 32 cancer patients (16 HPV-negative and 16 HPV-associated), treated in Örebro, Sweden from 1988 to 2008.
View Article and Find Full Text PDFHigh-Risk MCL: Recognition and Treatment.
Blood
December 2024
The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States.
Significant progress in determining the molecular origins and resistance mechanisms of mantle cell lymphoma (MCL) has improved our understanding of the disease's clinical diversity. These factors greatly impact prognosis in MCL patients. Given the dynamic alterations in MCL clones and disease evolution, it is crucial to recognize high-risk prognostic factors at diagnosis and relapse.
View Article and Find Full Text PDFIntroduction: The prognostic differences between neuroendocrine carcinoma (NEC) and mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) remain unclear.
Methods: This study aims to compare the prognostic outcomes of NEC and MiNEN by analyzing the clinicopathological features of these diseases and exploring factors affecting progression after radical surgery. Additionally, we employed whole-exome sequencing to investigate the molecular mechanisms influencing the prognosis of both conditions.
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