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Background and aims: Recent studies have shown that combining polygenic risk score (PRS) and carrier status for germline pathogenic variants in colorectal cancer (CRC) susceptibility genes (e.g. MLH1, MSH2, MSH6, PMS2) may increase the success of predicting CRC. This study aims to examine the prediction performance of CRC in Norwegian data using the status of pathogenic variants in the mismatch repair (MMR) genes with the available PRS models in the literature.

Methods: Our Norwegian cohort included 805 CRC cases, 86 of which carried a pathogenic variant in one of the MMR genes. As a control group, we included 8856 individuals without a cancer diagnosis, of which 179 were carriers for a pathogenic MMR variant. We first conducted a broad experiment to determine the best-performing PRS model for the Norwegian cohort. Afterwards, we established a combined analysis with the PRS model and the status of MMR genes.

Results: Among 10 PRS models tested, the best-performing PRS model for the Norwegian cohort included 204 single nucleotide polymorphisms (SNPs) (AUC=0.604). We also observed that the combined model of PRS and the status of MMR significantly improved the prediction performance.

Conclusion: The findings suggest that a combined model of a PRS and the status of MMR genes improves the prediction performance of CRC in Norwegian data.

Introduction: We conducted an online survey to investigate oncologists' clinical practices and views on palliative care at the end of life in the Italian region of Liguria.

Methods: The survey included 29 items divided into three sections: participant characteristics (n=6), hospital resources and practices (n=11), participant practices and views (n=12).

Results: Twenty-one of the 41 medical oncologists invited completed the survey (51%). Although almost all reported the presence of palliative medicine physicians at their hospitals (90%), nearly half (48%) stated that palliative medicine physicians were not responsible for managing cancer patients at end of life, and 21% reported routine participation of palliative medicine physicians in multidisciplinary meetings. Thirty-eight percent of the respondents stated they never consulted psychologists regarding end of life patient care, and 43% reported they rarely did. Notably, a substantial proportion of participants stated that they administered active treatments to patients with six months life expectancy. Regarding integration between oncology and palliative medicine, an equal proportion felt it had been fully (48%) or partially achieved (48%) at their hospitals.

Conclusions: Participants seemed fairly satisfied with the level of integration between oncology and palliative medicine at their hospitals, which contrasts with other findings regarding, for instance, the scant participation of palliative medicine physicians in multidisciplinary meetings. Exploring the impact of the novel regional clinical healthcare pathway for palliative care on practices at hospitals in Liguria will be crucial to ensure that cancer patients at end of life receive quality care.

Background: Hepatocellular carcinoma (HCC) is developed as a consequence of chronic liver cirrhosis, and both diseases are difficult to diagnose and differentiate. Accurate noninvasive biomarkers for HCC and liver cirrhosis are urgently needed.

Methods: Here we used high-throughput sequencing to characterize the B cell receptor (BCR) repertoires from 36 HCC tumor samples and 10 liver cirrhosis (LC) tissue biopsies to understand the immune alterations during hepatic carcinogenesis.

Results: The principal components analysis (PCA) showed that the pattern of BCR in HCC was distinct from that in LC. As measured by Clonality and Shannon indexes, the diversity of BCR repertoire was significantly lower in HCC than in LC (P < 0.01).

Conclusion: Our results corroborated that the BCR diversity and composition could be closely correlated with hepatic carcinogenesis. And BCR repertoire may be used to predict the progression of HCC and design targeting immunotherapy in the near future.

Background: The need for predictive factors regarding the response to immune checkpoint inhibitors (ICIs) is increasing. Recent research indicates that an enhanced response to ICIs is associated with a higher body mass index (BMI). This study aims to evaluate the relationship between response to ICIs and BMI in solid tumors.

Methods: We retrospectively analyzed patients with advanced cancer treated with ICIs at one academic center. We compared the treatment responses of patients classified as underweight/normal weight (BMI <25) and overweight/obese (BMI ⩾ 25) according to their BMI at the initiation of ICI treatment. After excluding underweight patients, we also compared the progression-free survival (PFS) and overall survival (OS) of normal-weight, overweight, and obese patients.

Results: Overall, 113 patients were evaluated. Forty-seven (41.6%) patients had BMI <25 and 66 (58.4%) patients had a BMI ⩾ 25. In underweight/normal patients, median PFS was 7.7 months (95% CI: 4.7-10.6) while it was 8.0 months (95% CI: 4.1-11.9) in overweight/obese patients (HR 1.16, 95% CI: (0.76-1.75), p=0.477). In underweight/normal patients, the median OS was 21.7 months (95% CI: 11.6-31.7) compared to 18.7 months (95% CI: 12.7-24.6) in overweight/obese patients (HR 1.06, 95% CI: (0.69-1.64), p=0.774). The objective response rate (ORR) was 38.3% in underweight/normal patients and 34.8% in overweight/obese patients (p = 0.707). After excluding underweight patients, there were also no significant differences in PFS (p = 0.914), OS (p = 0.642), and ORR (p = 0.909) between patients of normal weight, overweight, and obesity.

Conclusion: Our research found no correlation between BMI and response to ICIs. Additional prospective studies are necessary to assess the effect of BMI on the response to ICIs.

Introduction: Germline pathogenic mutations in TP53 gene are associated with a cancer predisposition syndrome known as Li Fraumeni syndrome. Albeit infrequently, non-small cell lung cancer, especially as oncogene-addicted disease, may be diagnosed in young patients with Li Fraumeni syndrome.

Case description: We report three cases of patients affected by Li Fraumeni syndrome who developed non-small cell lung cancer with EGFR or HER2 exon 20 insertions. The first patient suffered from liposarcoma and, then, brain metastases from HER2-mutated non-small cell lung cancer: after stereotactic radiotherapy, he benefited from enrollment in a clinical trial with a HER2-targeted therapy. The second young patient was a female with personal history of rhabdomyosarcoma, diagnosed with brain metastases from EGFR-mutated non-small cell lung cancer: enrollment in a clinical trial led to a temporary clinical benefit. The last case was a female diagnosed with breast carcinoma, ovarian granulosa cell tumor and advanced EGFR-mutated non-small cell lung cancer at a young age.

Conclusions: Young patients affected by oncogene-addicted non-small cell lung cancer and with a positive familial cancer history should be referred for an accurate genetic counselling to look for Li Fraumeni syndrome. The underlying molecular connection between TP53 and HER family receptor tyrosine kinases remains unclear, but an extensive molecular characterization of tumors from patients with Li Fraumeni syndrome should always be performed, to offer patients a personalized therapeutic approach.

Introduction: Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples.

Case description: We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare BRAF mutation (V600Q), a MET amplification, a high tumor mutational burden, a germline pathogenetic BRCA1 mutation and a homologous recombination deficiency through RAD51 assay. The treatment decision was driven by the abundance of molecular information.

Conclusions: This case highlights that an attentive and critical evaluation of molecular reports is key for the tailoring of treatment algorithms at the patient-level scale.

Genitourinary cancers present significant challenges to oncologists, necessitating innovative approaches for improved patient outcomes. The 'Controversies in Genitourinary Cancers' congress, held in January 2024, convened international experts to address the complexities of prostate, bladder, renal and rare genitourinary cancers. Sessions explored current trends, novel treatments, and unmet needs, emphasizing collaborative efforts to advance knowledge and patient care. Through multidisciplinary engagement and patient advocacy, the congress underscored the imperative of collective action in navigating the complexities of genitourinary cancers, ultimately aiming to transform clinical practice and improve patient outcomes.

Advances in therapeutic techniques and multimodal approaches have significantly improved the success rates of treatment for pediatric malignancies, with cure rates now close to 80%. This has led to an increase in long-term survival, with 0.10-0.15% of the general population being survivors of childhood cancer. In Italy, cancer registry data suggest that 75% of treated children become long-term survivors. However, these survivors face significant risks of late adverse events, including chronic diseases and severe conditions, highlighting the need for specialized follow-up care.Radiotherapy, a cornerstone of pediatric cancer treatment, contributes to late toxicities due to the susceptibility of growing tissues. Proton therapy offers advantages in reducing treatment-related toxicity, reducing the risk of secondary cancers, and allowing dose escalation for radioresistant tumors. Comparative studies suggest that proton therapy is superior in sparing healthy tissues and reducing long-term toxicities.Despite these benefits, challenges such as the high cost, limited proton therapy centers, and the need for clinical trials hinder the widespread adoption of proton therapy. Efforts to centralize care in high-ranking centers and ensure equitable access to proton therapy are crucial. In Italy, pediatric solid tumors are now eligible for proton therapy under national health policies, ensuring free access for all children.Dedicated proton therapy centers must provide comprehensive care involving multidisciplinary teams and supportive environments for pediatric patients and their families. Addressing current limitations and enhancing care environments are essential for improving outcomes for pediatric oncology patients.

Background: Colon cancer imposes a significant burden on global healthcare systems, necessitating efforts to improve oncology care quality and patient outcomes. We studied the correlation between care quality and survival outcomes among colon cancer patients within the Ligurian Oncology Network (Italy).

Methods: We developed an Overall Quality Score (OQS) to evaluate the impact of oncology care quality on survival outcomes within the Ligurian Oncology Network. OQS indicators were selected through expert consensus, covering screening, diagnosis, treatment, and follow-up. A sample of colon cancer patients diagnosed in 2012 was randomly selected from administrative healthcare data. Analyses were performed using two models: a binary model (High and Low OQS) and a stratified model (Low, Medium, and High OQS). Statistical analysis involved survival curves, log-rank tests, and Cox proportional hazards models using SAS 9.4.

Results: Of 175 eligible colon cancer patients, 150 were included. Following a median follow-up of 7.6 years, a correlation between High-OQS (⩾ 65%) and prolonged disease-free survival was observed (unadjusted HR 0.57, 95%CI 0.33-0.99, log-rank p=0.041). The five-year disease-free survival rate for High-OQS patients was 70% (95%CI 57-80%), compared to 53% (95%CI 41-64%) for Low-OQS patients. Similarly, the five-year overall survival rate was 78% (95%CI 65-86%) for High-OQS patients, compared to 58% (95%CI 45-68%) for Low-OQS patients (unadjusted HR 0.56, 95%CI 0.31-1.00, log-rank p=0.048).

Conclusions: Our findings highlight the potential impact of the patient journey on colon cancer survival outcomes. Optimising care pathways might improve patient outcomes in colon cancer management.

Purpose: This study aimed to compare the incidence of fat necrosis after accelerated partial breast irradiation (APBI) vs hypofractionated whole breast irradiation (WBI) in patients with early-stage breast cancer.

Materials and methods: Data from early-stage breast cancer patients who underwent breast-conserving surgery and adjuvant radiotherapy between 2009 and 2022 were retrospectively collected. Radiation therapy consisted of APBI of 30 Gy in 5 daily fractions (Fx) (delivered in one week, consecutively) to the tumour bed or WBI (42.4 Gy in 16 Fx). Reports on fat necrosis were extracted from yearly mammograms and breast ultrasound imaging. The primary endpoint was the incidence of radiologically detected fat necrosis.

Results: A total of 536 patients were included among the APBI and WBI cohorts, with 268 and 268 patients respectively. The three-year Kaplan-Meier actuarial rate of fat necrosis was 32.8% (95% CI: 30.0% - 35.6%) for APBI and 22.3% (95% CI: 19.7% - 24.9%) for WBI patients. Univariate Kaplan-Meier survival analysis revealed a Hazard Ratio of 1.6 [95% CI: 1.1 - 2.2; p = 0.0055] for the fat necrosis rate within the APBI group compared to WBI. Multivariate Cox proportional hazard regression confirmed significant associations between fat necrosis and APBI (HR = 2.2 95% CI: 1.2 - 4.0; p = 0.01).

Conclusions: The occurrence of radiologically diagnosed fat necrosis was higher in the APBI group compared to the WBI. Further investigations aiming to identify a lower-dose schedule with comparable efficacy to 30 Gy in 5 Fx but fewer toxicities, particularly for high-risk patients, are warranted.