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Mutation - Europe PMC

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Last Updated: 04 June 2022

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Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.

"Mediastinal yolk sac tumors are highly infectious germ cell tumors with an extremely poor prognosis. " We present a 29-year-old male patient with a refractory metastatic primary YST involving a germline frameshift mutation in the BRCA2 gene. The patient was found to react poorly to chemotherapy with or without an immune checkpoint inhibitor, but not well to radiotherapy, according to treatment transitions. "This case report is the first to describe a remarkable reaction to local radiotherapy in a patient with a refractory metastatic mediastinal YST involving a DDR-gene mutation, to the best of our knowledge. ".

Source link: https://europepmc.org/article/MED/35576916


Clinical and molecular characteristics of acute myeloid leukemia with MPL mutation.

"Objectives" The current research sought to determine the incidence of MPL mutations and the clinical and molecular characteristics of AML with MPL mutations. The clinical characteristics of MPL-mutated AML and other classes of MNs or MPL-wide AML were compared, as well as the diversity of co-mutations and MPL mutation profiles in MPL-mutated AML were compared, as well as MPL-mutated AML. MPL mutations were found in 19 of 1509 AML patients. MPL mutations were common in AML's intracellular region, but MPN's transmembrane zone was largely absent, according to the transmembrane region. The MPL-mutated AML group had a lower white blood cell count and a slower rate of complete remission than the MPL wild-type AML group. MPL mutations are clinically relevant in AML patients, and they can be a novel subtype of reduced white blood cell counts and poor complete remission rates. ".

Source link: https://europepmc.org/article/MED/35544613


Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

"Objectives LPS-responsive beige-like anchor protein deficiency abolishes LRBA protein expression as a result of autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical manifestations. " Using specific primers 53, Mutational analysis of the LRBA gene was carried out in Indian patients using targeted Next Generation Sequencing and confirmed by Sanger sequencing using specific primers 53. Results We present unusual occurrence of a female patient born of a consanguineous marriage, with severe anaemia and jaundice, as well as a history of multiple blood transfusions of unknown origins up to the age of 5 years old. The parents were heterozygous, with a novel homozygous missense change in exon 53 of the LRBA gene. "This research shows that targeted exome sequencing for the molecular diagnostic tool of unexplained haemolytic anaemia with heterogeneous clinical phenotypes" in a timely manner.

Source link: https://europepmc.org/article/MED/35413226


RT-LAMP assay for rapid detection of the R203M mutation in SARS-CoV-2 Delta variant.

"Our aim in this research was to develop and validate a genotyping RT-LAMP system to detect Delta variants specifically. " As the Delta variant-specific mutation for genotyping, R203M in the N gene of SARS-CoV-2 was selected as the Delta variant-specific mutation for genotyping. Two sets of primers were formulated, and a Cq ratio-based RT-LAMP for SARS-Cov-2 and R203M detection was created to investigate the significant difference between the two sets of primers' amplification efficiency. To target the R203M-harboring region and the conserved sequence of the N gene. We established the RT-LAMP technique on 498 clinical samples in parallel with RT-qPCR, and 84 Delta variants from 198 positive samples were determined by sequencing. RT-LAMP seems to be 100% accurate in detecting SARS-CoV-2 clinical samples in comparison to traditional RT-qPCR tests. Under a Cq ratio threshold of 1. 80," RT-LAMP has a great ability to distinguish between Delta and non-Delta variants.

Source link: https://europepmc.org/article/MED/35293849


Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

"Genetic Creutzfeldt-Jakob disease is a prion disease attributed to mutations in the prion protein gene. " The effect of homozygous mutations on the gCJD phenotype is unknown, and it has an autosomal dominant inheritance, so gCJD with homozygous mutations is extremely unusual, and homozygous mutations are extremely rare. We review literature in gCJD cases with PRNP homozygous mutations in order to describe the clinical and laboratory characteristics of a patient with a PRNP T188K homozygous mutation. The only three mutations identified as homozygous in gCJD were PRNP V203I, E200K, and E200D, according to a literature review. This is the first report of a gCJD patient with a PRNP T188K homozygous mutation, according to the best of our knowledge. Although the clinical signs of our patient were similar to those with PRNP T188K heterozygous mutations, she was born with a marginally earlier onset and a longer survival time.

Source link: https://europepmc.org/article/MED/35130121


A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.

"An 84-year-old woman who had been diagnosed with dementia with Lewy's body on the first examination revealed cognitive impairments and person delusional misidentification, as she transiently stated that her spouse was a stranger. " Although the clinical features of Creutzfeldt Jakob disease were not apparent, a genetic analysis of the prion protein gene, which was done because of a family history of dementia, found a V180I mutation leading to genetic CJD. Person DMS as the first neuropsychiatric symptom of V180I g-CJD was not present in this patient, according to the present article; the typical long-term clinical signs of CJD were not present in this patient. Clinically based patient DMS as the first clinical sign and the presence of numerous cortical hyperintensity areas may be helpful to clinicians trying to diagnose V180I g-CJD in patients with elusive symptoms.

Source link: https://europepmc.org/article/MED/34965177


Hereditary Pheochromocytoma With a Mutation in the Succinate Dehydrogenase Subunit A Gene

"Pathogenic variants in the genes encoding different subunits of the succinate dehydrogenase enzyme complex, which plays a significant role in energy metabolism, have been attributed to hereditary PPGL syndromes. " On abdominal examination, a middle-aged woman suffered with left-sided abdominal pain and was accidentally discovered to have bilateral adrenal lesions. The discovery of susceptibility genes for hereditary PPGL syndromes has major implications, both for surveillance to detect extra-adrenal disease and recurrent tumors, as well as family genetic testing. ".

Source link: https://europepmc.org/article/MED/PMC9148421


Adolescent Triple-negative Breast Cancer with Germline Mutation of both BRCA1 and TP53: A Case Report

"Almost 54%" of breast cancer cases have inherited mutations, while 51% have inherited mutations. BRCA1 and BRCA 2 are among the most commonly mutated genes in breast cancer in addition. Nearly 80% of BRCA1 mutation carriers are diagnosed with breast cancer at a young age before menopause, with breast cancer diagnosed at a young age. For both BRCA1 and TP53 germline mutations, there is currently no evidence of early onset breast cancer. Here, we cover the case of a 14-year-old female diagnosed with triple-negative breast cancer with a family history of malignant tumors. Both germline mutations of BRCA1 and TP53 were found in the patient's white blood cells, and a panel of 11 cancer-related genes were tested against a panel of 11 cancer-related genes. According to the complaint, a multiple gene panel screening should be carried out for breast cancer patients with an early age of onset and a family history of cancer.

Source link: https://europepmc.org/article/PPR/PPR501955


Dacomitinib overcomes afatinib-refractory carcinomatous meningitis in a lung cancer patient harbouring EGFR Ex.19 deletion and G724S mutation; a case report.

"It has been reported that the effectiveness of EGFR-TKI is predicted, not by which exon of the EGFR gene is mutated, but rather by the cellular change in the EGFR protein as a result of the mutation. " Here is a brief overview of an EGFR-mutated lung cancer patient with a 13-year history of anticancer therapy, in which EGFR ex. 19 deletion and G724S mutations were discovered by liquid biopsy during 12th line afatinib therapy, and switching to dacomitinib therapy demonstrated reduction of cancerous meningitis.

Source link: https://europepmc.org/article/MED/35657573


Novel mitochondrial tRNA Leu(UUR) 3261A > g mutation in two pedigrees with essential hypertension.

"Background" is a term that refers to mitochondrial tRNA mutations. Aims This research was conducted to determine the relationship between EH and mitochondrial dysfunction. Methods A number of 30 people from two different Chinese families were tested for genetic, clinical, and biochemical phenotypes relating to EH and mitochondrial function. These patients with EH had the tRNA Leu 3261A > G mutation and were of the B5 and D4 Eastern Asian mitochondrial haplogroups, and they had tRNA Leu 3261A > G mutation. This 3261A > G mutation was expected to result in disruption of normal tRNA Leu expression owing to the destabilization of conserved base pairings. We found that cybrid cell lines with this 3261A > G mutation had a 49. 0 percent decrease in baseline tRNA Leu levels, which was consistent with this prediction. ".

Source link: https://europepmc.org/article/MED/35657541

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions