Optimizing the risk stratification of astrocytic tumors by applying the cIMPACT-NOW Update 3 signature: real-word single center experience.

Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.

Corrigendum: A novel splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in : a case report.

[This corrects the article DOI: 10.3389/fonc.2023.

A novel splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in : A case report.

The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these variants on cancer risks is mostly unknown, posing a serious problem for genetic counseling in these individuals and their relatives, in whom the variants may segregate singly or in combination. We report a female patient who developed triple-negative high grade carcinoma in the right breast at the age of 36 years.

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.

Background: The incidence of cutaneous melanoma is increasing in Italy, in parallel with the implementation of gene panels. Therefore, a revision of national genetic assessment criteria for hereditary melanoma may be needed. The aim of this study was to identify predictors of susceptibility variants in the largest prospective cohort of Italian high-risk melanoma cases studied to date.

Sensitivity to Immune Checkpoint Blockade in Advanced Non-Small Cell Lung Cancer Patients with Exon 20 Insertion Mutations.

Besides platinum-based chemotherapy, no established treatment option exists for advanced non-small-cell lung cancer (NSCLC) patients with exon 20 (Ex20ins) insertion mutations. We sought to determine the clinical outcome of patients with this mutation subtype in the immunotherapy era. Thirty NSCLCs with Ex20ins mutations were identified, of whom 15 had received immune checkpoint blockade (ICB) treatment as monotherapy (N = 12), in combination with chemotherapy (N = 2) or with another immunotherapeutic agent (N = 1).

New somatic TERT promoter variants enhance the Telomerase activity in Glioblastoma.

The catalytic activity of human Telomerase Reverse Transcriptase (TERT) compensates for the loss of telomere length, eroded during each cell cycle, to ensure a correct division of stem and germinal cells. In human tumors, ectopic TERT reactivation, most frequently due to hotspot mutations in the promoter region (TERTp), i.e.

Prevalence and Spectrum of Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Hereditary breast and ovarian cancers are mainly linked to variants in /2 genes. Recently, data has shown that identification of variants has an immediate impact not only in cancer prevention but also in targeted therapeutic approaches. This prospective observational study characterized the overall germline variant and variant of uncertain significance (VUS) frequency and spectrum in individuals affected by breast (BC) or ovarian cancer (OC) and in healthy individuals at risk by sequencing the entire genes.

Surveillance of infectious diseases in the Italian military as pre-requisite for tailored vaccination programme.

Surveillance and control of infectious diseases in the Italian military include prompt reporting of all occurring cases and prophylaxis through compulsory vaccination practices. The last mandatory immunisation programme in the Italian military was launched in 1998 (more than 10 years after the previous programme was introduced in 1986-1987) and it was planned according to the epidemiological data herein reported. The incidence rates (number of cases x 100000 subjects) of infectious diseases notified during the period 1976-1980 were compared with the corresponding figures notified 15 years later (1991-1995).

Tuberculin skin reactivity in Italian military recruits tested in 1996-1997.

In 1996-1997 data was collected and a Mantoux tuberculin test performed in 2882 Italian military recruits aged 18-23 years in order to establish the prevalence of tuberculin reactivity. In addition, the annual risk of infection, defined as the probability that a non-infected individual would be infected during the following year, was calculated. Of the 2882 recruits, 513 had received a BCG vaccination, the remaining 2369 had not.

Prevalence of markers of exposure to Bordetella pertussis among Italian young adults.

Titers of serum antibody and cell-mediated immunity (CMI) to Bordetella pertussis antigens were assessed in a cohort of Italian military school students for whom the coverage of pertussis vaccination was low. The overall prevalence of IgG antibody above the minimum level of detection (MLD) was 71.6% for pertussis toxin (PT), 81% for pertactin (PRN), and 99% for filamentous hemagglutinin (FHA).

Synthesis and in vitro antitumor activity evaluation of 9-substituted 1,2,3,4-tetrahydrocarbazoles.

A series of 9-acetamido-1,2,3,4-tetrahydrocarbazoles (2) and 9-(aminoalkyloxyethyl)-1,2,3,4-tetrahydrocarbazoles (4) were prepared and tested for their in vitro antitumor activity. Compounds 4 are highly cytotoxic in almost all subpanel cell lines when tested at 10(-4) M, but showed a weak activity at the lowest concentrations employed.

Synthesis and antihypertensive activity evaluation of indole derivatives N-acetamido substituted.

The synthesis of a series of 1-(alkyl- or aryl-aminocarbonylmethyl)-2-methyl- or 2-phenyl-indoles are described. All compounds were tested for antihypertensive activity on spontaneously hypertensive rats (SHR) and some of them showed a significant reduction of the arterial pressure.