Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics

We present here two cases of papillary thyroid carcinoma (PTC) in patients affected by Lynch syndrome (LS). The first case is a 47-year-old woman with typical hereditary non-polyposis colorectal cancer (HNPCC) syndrome, reported with endometrial and ovarian carcinoma at age 43, and colon cancer at age 45. The patient underwent total thyroidectomy and central node dissection in 2007, at 47years old, with a histological diagnosis of PTC (T1aN1a). Molecular genetics showed a germ-line mutation of the MLH1 gene, 1858 G>T(E620X), with substitution of glycine with a stop codon at position 620. This mutation has pathogenetic significance and was considered responsible for the various tumours of the HNPCC spectrum. In particular, in the same kindred, spanning 5 generations, there were 5 members with colorectal cancer, 4 with endometrial cancer, 3 with gastric and 2 with breast cancer. The second case is a 34-year-old man with typical HNPCC syndrome with colonic resection for colon cancer at age 21. The patient underwent total thyroidectomy with central and lateral node dissection in 2010, at age 34, with a histological diagnosis of PTC with nodal metastases (pT4N1b). Molecular genetic analysis showed a germ-line mutation of the MSH2 gene (thymine insertion at position 907). This mutation had pathogenetic significance and was considered responsible for HNPCC development. Two similar cases have been reported: a 39-year-old woman, and a 44-year-old woman, affected by HNPCC syndrome, ...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research

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Conclusion: Our study demonstrated that the aberrant expression of CDCA gene family members plays an indispensable role in tumorigenesis. PMID: 31955607 [PubMed - as supplied by publisher]
Source: Future Medicine: Biomarkers in Medicine - Category: Internal Medicine Tags: Biomark Med Source Type: research
Publication date: Available online 20 January 2020Source: Carbohydrate PolymersAuthor(s): Nadezhda E. Ustyuzhanina, Maria I. Bilan, Andrey S. Dmitrenok, Alexander S. Shashkov, Nora M.A. Ponce, Carlos A. Stortz, Nikolay E. Nifantiev, Anatolii I. UsovAbstractFucosylated chondroitin sulfate (FCS) HeSp was isolated from the Patagonian sea cucumber Hemioedema spectabilis. Ion-exchange chromatography was applied for purification of the FCS from the crude extract of sulfated polysaccharides. Analysis of monosaccharide and sulfate content of HeSp revealed the molar ratio of GlcA:GalNAc:Fuc:SO3Na as 1.15:1:1.1:3.9. Molecular weight...
Source: Carbohydrate Polymers - Category: Biomedical Science Source Type: research
Cancer immune evasion is achieved through multiple layers of immune tolerance mechanisms including immune editing, recruitment of tolerogenic immune cells, and secretion of immunosuppressive cytokines. Recent success with immune checkpoint inhibitors in cancer immunotherapy suggests a dysfunctional immune synapse as a pivotal tolerogenic mechanism. Tumor cells express immune synapse proteins to suppress the immune system, which is often modulated by epigenetic mechanisms. When the methylation status of key immune synapse genes was interrogated, we observed disproportionately hypermethylated costimulatory genes and hypometh...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Increased rates of locoregional recurrence are observed in patients with basal-like breast cancer (BC) despite the use of radiation therapy (RT); therefore, approaches that result in radiosensitization of basal-like BC are critically needed. Using patients’ tumor gene expression data from 4 independent data sets, we correlated gene expression with recurrence to find genes significantly correlated with early recurrence after RT. The highest-ranked gene, TTK, was most highly expressed in basal-like BC across multiple data sets. Inhibition of TTK by both genetic and pharmacologic methods enhanced radiosensitivity in mul...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Publication date: Available online 21 January 2020Source: Sensors and Actuators B: ChemicalAuthor(s): Ying Li, Pengchao Zhang, Tao Li, Rui Hu, Jiang Zhu, Ting He, Yunhuang Yang, Maili LiuAbstractCancer cells’ MMP9 activity plays vital roles in tumor development. Tumor cells are in an adhesion profile during cell-cell and cell-matrix interaction. However, it is challenging for current platforms (e.g., typical droplet systems) to measure MMP9 secreted by single cells in an adhesion profile and retrieve the cells of interest for downstream analysis. Herein, we report a single-cell protease sensor (SCPS) based on ‘...
Source: Sensors and Actuators B: Chemical - Category: Chemistry Source Type: research
In this study, protein-based nanoparticles were constructed with TRAIL and a dipeptide, diphenylalanine (FF), through molecular self-assembly. TRAIL-FF nanoparticles with sizes ranging from 60 nm to 500 nm could be prepared by controlling the concentration and the ratio of the two components. These nanoparticles could locate around the cytomembrane of MCF-7 cells due to the specific interaction between TRAIL and death receptors, thus transduce apoptotic signal. Therefore, the TRAIL-FF nanoparticles showed distinct killing effect on the cancer cells, such as MCF-7 and H460 cells, and the IC50 of the nanopartic...
Source: Colloids and Surfaces A: Physicochemical and Engineering Aspects - Category: Chemistry Source Type: research
75 years old patient, with controlled diabetes and hypertension, very fit. he underwent in 2009, a radical prostatectomy followed 30 fractions of adjuvant 3D conformal radiation therapy to the prostatic bed only. in 2018: PSA rise to 2.16 2019: PSA 2.16 Pet PSMA showed a 7 mm LN at the level of L4-5 secondary lesion, with no recurrence in the tumor bed, neither in bone or other LNs. He was put on decapeptyl + casodex. please vote the poll
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Radiation Oncology Source Type: forums
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Source: Anxiety, Stress and Coping - Category: Psychiatry & Psychology Authors: Source Type: research
This study aimed to determine the main single nucleotide polymorphisms that are associated with an increased or decreased risk of glioma development in healthy individuals. We conducted a systematic review of the articles published in English on the PUBMED database between January 2008 and December 2017. Our search resulted in a total of 743 articles; however, only 56 were included in this review. A total of 148 polymorphisms were found, which involved 64 different genes. The polymorphisms that were most associated with an increased risk of glioma development were polymorphic variants rs179782, rs13181, and rs3791679 of th...
Source: Cancer Investigation - Category: Cancer & Oncology Tags: Cancer Invest Source Type: research
MARTINEZ, Calif. - Monsanto Co. filed a brief in support of summary judgment dismissal in California state court on Jan. 15, just two days before the trial was slated to begin, arguing that a woman's glyphosate cancer lawsuit is barred by the express preemption clause in the Federal Insecticide, Fungicide and Rodenticide Act (FIFRA) (Kathleen Caballero v. Monsanto Company, et al., No. MSC19-01821, Calif. Super., Contra Costa Co.).
Source: LexisNexis® Mealey's™ Emerging Toxic Torts Legal News - Category: Medical Law Source Type: news
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