Somatic SF3B1 hotspot mutation in prolactinomas
نویسندگان
چکیده
منابع مشابه
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
BACKGROUND Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies. METHODS We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplas...
متن کاملInappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1.
Somatic mutations of the RNA splicing machinery have been recently identified in myelodysplastic syndromes. In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sideroblasts, a condition characterized by ineffective erythropoiesis and parenchymal iron overload. We studied the relationship between SF3B1 mutation, erythroid activity and hepcidi...
متن کاملProlactinomas.
Identifying the correct cause of hyperprolactinemia is crucial for treatment. Prolactinoma is the most common pathologic cause of hyperprolactinemia. Dopamine agonists are efficacious in about 80% to 90% of patients with prolactinoma, leading to reduction of serum prolactin levels and tumor dimensions. Neurosurgery, mainly by the transsphenoidal route, is indicated in cases of intolerant and re...
متن کاملMUTATION IN HOTSPOT REGIONS OF THE ERG11 GENE AND FLUCONAZOLE RESISTANCE IN CLINICAL ISOLATES OF CANDIDA ALBICANS IN RASHT CITY
Background & Aims: Nowadays, the common use of azoles has led to increased resistance to azole among Candida albicans strains. Amino acid substitutions in azole target enzyme, ERG11p, is attributed to azole resistance in some clinical strains of Candida albicans. The aim of this study was to evaluate ERG11 gene mutations in fluconazole-resistant isolates of Candida albicans in Rasht. Materials...
متن کاملSomatic Mutation and Autoimmunity
Upon reading Christopher Goodnow’s recent Review article in Cell, which emphasized the overlapping role of somatic mutation in autoimmunity and cancer (Goodnow, 2007), I was reminded of a graduate lecture course given by Professor Roderick MacLeod in 1995 at the University of Illinois. While introducing F.M. Burnet’s clonal selection theory to our small class, Professor MacLeod mentioned Burnet...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2020
ISSN: 2041-1723
DOI: 10.1038/s41467-020-16052-8