This study aimed to examine whether concurrent mutations with a promoter mutation are associated with a greater likelihood of more aggressive disease than a promoter mutation alone. The medical records of 1477 patients who underwent thyroid surgery at two tertiary hospitals between 2017 and 2022 were reviewed. Twenty-four patients had promoter mutations based on molecular profile testing. Clinicodemographic data, mutational profiles, and histopathological features were assessed. Descriptive analysis, Fisher's exact test, and binary logistic regression were performed. Seven patients had single-gene promoter mutations, and 17 had concurrent mutations, including , , , , and . The overall prevalence of malignancy was 95.8%, of which 78.3% were aggressive thyroid cancers. There was a statistically significant association between concurrent mutations and disease aggressiveness. The odds of having aggressive disease were 10 times higher in patients with a promoter mutation and a concurrent molecular alteration than in those with a promoter mutation alone. This is an important finding for thyroid specialists to consider when counseling patients concerning risk stratification and management options.
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http://dx.doi.org/10.3390/cancers15020413 | DOI Listing |
Sci Rep
January 2025
Department of Chemistry, Faculty of Science, Cairo University, Giza, Egypt.
Yttrium oxide nanoparticles (YONPs) have emerged as a promising avenue for cancer therapy, primarily due to their distinctive properties that facilitate selective targeting of cancer cells. Despite their potential, the therapeutic effects of YONPs on human epidermoid skin cancer remain largely unexplored. This study was thus conducted to investigate the impact of YONPs on both human skin normal and cancer cells, with an emphasis on assessing their cytotoxicity, genotoxicity, and the mechanisms underlying these effects.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFSurg Oncol
December 2024
Peritoneal Surface Malignancies Unit, General and Digestive Surgery Department, Fuenlabrada University Hospital, Madrid, Spain.
Background: disease burden (PCI), completeness of cytoreduction or histological features, are known to influence survival after CRS-HIPEC for colorectal peritoneal metastases (CPM). However, there is still debate about influence of CPM onset. The aim of this study is to determine the impact of CPM onset on oncological outcomes after CRS-HIPEC.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Larkin Community Hospital, South Miami, USA.
We report a rare case of a 45-year-old Asian male patient with concurrent multiple myeloma (MM), immune thrombocytopenic purpura (ITP), and thalassemia trait, presenting with severe thrombocytopenia, back pain, and bleeding manifestations. The diagnosis was established through a combination of laboratory findings, imaging, and bone marrow biopsy, revealing 90% plasma cell involvement and KRAS/BRCA2 mutations. Management focused on controlling ITP with corticosteroids, rituximab, and platelet transfusions while addressing immunosuppression risks.
View Article and Find Full Text PDFIndian J Pathol Microbiol
September 2024
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, P. R. China.
Multiple myeloma (MM), essential thrombocythemia (ET), and colorectal adenocarcinoma (CA) are three distinct diseases. The co-occurrence of MM, ET, and CA in a single patient is exceedingly rare. Our study presents a remarkable case involving a 75-year-old patient who was simultaneously diagnosed with these three diseases.
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