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Objective: we compared and analyzed the imaging features, tumor markers, pathological immunohistochemistry, and lymph node metastasis rates of solitary and multiple lung adenocarcinoma to provide a valuable reference for clinical diagnosis and treatment.

Methods: A retrospective analysis of 212 patients who underwent thoracic surgery in our hospital from 2022 to 2023, including 149 patients with a solitary lung adenocarcinoma nodule and 63 patients with multiple primary nodules. Via propensity score matching, the imaging features, tumor serological markers, pathological immunohistochemistry, and lymph node metastasis rates of the two groups were compared, and the differences in lymph node metastasis rates between solitary and multiple nodules were explored by binary logistic regression.

Results: After propensity score matching, there were significant differences in the mean CT value (P = 0.001), Ki-67 expression (P < 0.001), PD-L1 expression (P = 0.002), and the lymph node metastasis rate (P = 0.030) between the two groups, but there were no significant differences in nodule type, imaging features, tumor serological marker levels, and the ALK-positive and SYN-positive rates. With lymph node metastasis as the dependent variable, solitary or multiple nodules as the categorical covariate, and the three variables were included as independent variables for binary logistic regression analysis. The probability of lymph node metastasis was 80.8% lower in patients with multiple primary lung adenocarcinoma nodules than in those with a solitary one (P = 0.042).

Conclusion: Multiple primary adenocarcinoma nodules exhibit milder biological behavior than solitary adenocarcinoma nodules and carry a lower risk of lymph node metastasis.

Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional MLH1 promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome. Universal Tumor Screening, performed on tumoral specimens to identify features suggestive of Lynch syndrome, shows the same features both in the case of sporadic cancers and Lynch syndrome-cancers due to a constitutional MLH1 methylation: microsatellite instability, deficiency of MisMatch Repair proteins, and methylation of MLH1 gene. Over the last few years, identifying methylation of MLH1 promoter on tumors was used to discern sporadic tumors from Lynch syndrome tumors: the methylation of the MLH1 promoter was usually explained as a somatic event and this could lead to a missed diagnosis of some Lynch syndrome cases. Therefore, establishing criteria to decide when to test patients for constitutional MLH1 methylation is urgent. In the case of microsatellite instability/deficiency of MisMatch Repair tumors with MLH1 methylation, a germline genetic test could be requested for all colorectal cancer patients aged 55 years or younger and all endometrial cancer patients younger than 50 years old, independently from family history. The prevalence of germline MLH1 epimutations is not precisely known and possibly underestimated. The associated cancer risk could be similar to that due to a MLH1 sequence variant. MLH1 epimutations could be secondary to other genetic defects and follow an autosomal dominant inheritance. On the contrary, primary epimutations are often "de novo" events, and their transmission does not follow Mendelian rules.

Background: The combination of programmed cell death protein 1 (PD-1) inhibitors and chemotherapy has shown promising results in the treatment of various malignancies. This meta-analysis aims to evaluate the effectiveness and safety of combing PD-1 inhibitor with chemotherapy in patients with advanced NPC.

Methods: A thorough search of the literature was carried out using comprehensive methods. The assessed outcomes included overall survival (OS), progression-free survival (PFS), objective response rate (ORR), disease control rate (DCR), and adverse events (AEs).

Results: This meta-analysis included seven studies with a total of 1204 patients. The use of a combination therapy involving PD-1 inhibitor and chemotherapy demonstrated significant improvements in OS (HR=0.60, 95%CI: 0.45, 0.80; P<0.001), PFS (HR=0.51, 95%CI: 0.42, 0.61; P<0.001), ORR (RR=1.23, 95%CI: 1.07, 1.40; P=0.003) and DCR (RR=1.13, 95%CI: 1.03, 1.23; P=0.003) compared to other treatments in patients with advanced NPC. Subgroup analyses based on PD-1 inhibitor type, chemotherapy regimen and study design indicated that these factors influenced OS but not PFS. Prognostic factor analysis consistently demonstrated a PFS benefit associated with the combination treatment across various patient subgroups. The incidences of AEs, grade 3 or higher AEs were comparable between the two groups. However, the combination group was significantly more likely to discontinue treatment because of AEs.

Conclusion: This meta-analysis provides evidence supporting the effectiveness and safety of PD-1 inhibitor plus chemotherapy in advanced NPC. The combination therapy showed superior outcomes in terms of OS, PFS, ORR, and DCR.

Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.

Methods: Data from the Hereditary Digestive Tumors Registry at Fondazione IRCCS Istituto Nazionale dei Tumori of Milan from 1995 to 2018 were analyzed. The study included 397 LS patients, as categorized based on adherence to surveillance. Statistical analyses, including multivariable logistic regression, were employed to identify factors influencing adherence.

Results: Out of 397 LS patients, 305 (76.8%) completed surveillance, and 92 (23.2%) were lost during surveillance. Fifty-two patients developed colorectal cancer during the surveillance: 34 among patients who completed the surveillance and 18 among those who did not (p<0.036). Factors positively influencing adherence included genetic counseling and higher education, while the distance from the referral center had a negative impact. The survival rate was 83.5% at 240-months.

Conclusions: This study emphasizes the importance of adhering to a regular colorectal surveillance program for LS individuals. Genetic counseling and higher education emerged as a crucial factor positively affecting adherence. The negative impact was observed for geographical distance from the referral center.

O-linked-N-acetylglucosaminylation (O-GlcNAcylation), one of the protein post-translational modifications, is the process of adding O-linked-β-D-N-acetylglucosaminylation (O-GlcNAc) to serine and threonine residues of proteins. O-GlcNAcylation regulates various fundamental cell biological processes, including gene transcription, signal transduction, and cellular metabolism. The role of dysregulated O-GlcNAcylation in tumorigenesis has been recognized, but its role in cancer therapy tolerance has not been elucidated. Therefore, this paper provides the latest evidence on the role of O-GlcNAcylation in cancer therapy responsiveness to understand the impact of O-GlcNAcylation on cancer therapy outcomes, as well as analyzing several possible mechanisms by which O-GlcNAcylation dysregulation affects cancer therapy efficacy, and discusses the possibility of O-GlcNAcylation as a cancer therapy sensitizer.

Population-based screening programs aim to detect the disease at an early stage, so less treatment will be needed as well as having better oncological outcomes when diagnosed earlier. In the majority of European countries, breast cancer screening programs are designed based on women age.Meta-analysis of randomized clinical trial data demonstrates a reduction in the relative risk of breast cancer mortality due to screening, which has been estimated to be approximately 20%.One of the controversies about the population breast screening programs is that age-based screening ignores women's individual breast cancer risk. Identification of high-risk women may intensify the screening measures and will optimize the population screening programs to align them to individual risks.Family history of breast cancer is one of the risk factors to consider along with the recently developed polygenic risk scores to stratify women into a risk group. Other factors to assess risk include: mammographic breast density; B3 lesions with atypia in breast biopsy specimens; hormonal and lyfestyle and, potentially, epigenetic markers. Still, there are some difficulties in validating these factors and reflecting the interaction between risk factors in the models.Ongoing screening trials (e.g., WISDOM and MyPebs) are currently evaluating the clinical acceptability and utility of risk-stratified screening programs in the general population, and should provide valuable information for the possible implementation of such programs.Communication of complex risk information to the women, as well as assessing ethical concerns need to be addressed before implementation of risk stratified programs.

Introduction: In the literature, the data about the factors related to the choice of the setting at patient's first palliative care admission visit are scanty. In fact it seems that the choice between home or hospice care is mainly based on the opinions and needs of patients, families and physicians. This study aims to address the association between the clinical factors detected at the first palliative visit in advanced cancer patients and the choice of palliative care setting (i.e., hospice or home care).

Methods: This is a monocentric, prospective cohort study. A total of 1811 consecutive patients with advanced cancer, admitted to the VIDAS Palliative Care service (hospice/ home care), Milan, Italy in 2018-2020 were included.

Results: In the univariate analysis, several clinical comorbidities and physiological deficits were associated with hospice admittance; while patients with more severe symptoms of anxiety, asthenia, depression, and pain were associated with home care admittance. In the multivariate logistic analysis, six clinical factors were associated with the risk of hospice admission: anxiety (OR 0.16), brain metastases (OR 1.67), severe sleep-wake rhythm upset (OR 1.79), bone/vertebral fractures (OR 2.12), intestinal occlusion or sub-occlusion (OR 2.16), and cachexia (OR 2.25). The multivariate cluster analysis confirmed the link observed with the previous statistical analyses.

Conclusion: The results of this analysis showed that some clinical factors were closely related to the chosen palliative care setting and should be taken into consideration a priori to deciding the most appropriate place of care.

Introduction: The association of acute lymphoblastic leukaemia (ALL) and cystic fibrosis (CF) is rare. We present the case of a paediatric patient affected by CF and refractory B-cell precursor (BCP) ALL, who was treated with combined chimeric antigen receptor T-cells (CAR-T) and allogeneic haematopoietic stem cell transplantation (HSCT).

Case description: Autologous-CD19 targeting CAR-T allowed to achieve molecular remission and spare chemo-related toxicity. As B-cell aplasia was not achieved, the patient underwent HSCT after total body irradiation (TBI)-based conditioning. The course after HSCT was complicated by veno-occlusive disease, status epileptic and pulmonary invasive fungal infection which showed progressive radiological worsening despite aggressive treatment. Five months after HSCT a left upper lobe lobectomy was successfully performed. Thirteen months after HSCT the patient is in complete disease remission with normal lung function.

Conclusions: CAR-T cell therapy bridge-to-HSCT may be an effective approach in paediatric refractory ALL in the context of multiple comorbidities as observed in CF.

The Gruppo Oncologico Italiano di Ricerca Clinica (GOIRC) is Italy's first cooperative oncology research group, evolving to conduct academic clinical trials since 1985. With 167 publications and collaborations with national and international partners, GOIRC has significantly impacted clinical practices. The group emphasizes training and has developed robust internal standard operative procedures (SOPs) to enhance data quality. GOIRC is poised to tackle future challenges in translational research, focusing on innovative trial designs, precision medicine, and leveraging different laboratory resources across its 42 units.

Introduction: Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.

Case description: Here we report a unique case of early onset, bifocal, non-Triple Negative breast cancer in a 31-year-old woman. Fast metastatic dissemination involving the brain caused the death of the patient in a few months. Her multigene panel testing showed the co-occurrence of pathogenic variants in PALB2 (c.1221del; p.Thr408fs*40), ATM (c.8545C>T; p.Arg2849*), PMS2 (c.1919C>A; p.Ser640*), and MUTYH (c.1103G>A; p.Gly368Asp). The patient inherited the ATM and MUTYH variants from the mother, and PALB2 and PMS2 variants from the father. The brother inherited the maternal ATM and paternal PMS2 variants. A baseline imaging-based family screening excluded malignancies in both parents and in the brother. Tailored monitoring is ongoing based on the risk predicted by pathogenic variants identified in family members.

Conclusions: Currently, there are no predictive tools available to determine organ-specific cancer risk in MINAS patients. Given the uncertainty in predicting the phenotypic effect of multiple variants in CSGs, ongoing clinical surveillance and sharing data from complex cases are crucial for improving risk stratification in this condition.