Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?

BACKGROUND: MUTYH has been implicated in hereditary colonic polyposis and colorectal carcinoma. However, there are conflicting data refgarding its relationship to hereditary breast cancer. Therefore, we aimed to assess if MUTYH mutations contribute to breast cancer susceptibility. METHODS: We retrospectively reviewed 3598 patients evaluated from June 2018 to June 2023 at the Hereditary Cancer Unit of La Paz University Hospital, focusing on those with detected MUTYH variants. RESULTS: Variants of MUTYH were detected in 56 patients (1.6%, 95%CI: 1.2-2.0). Of the 766 patients with breast cancer, 14 patients were carriers of MUTYH mutations (1.8%, 95%CI: 0.5-3.0). The prevalence of MUTYH mutation was significantly higher in the subpopulation with colonic polyposis (11.3% vs. 1.1%, p < 0.00001, OR = 11.2, 95%CI: 6.2-22.3). However, there was no significant difference in the prevalence within the subpopulation with breast cancer (1.8% vs. 1.5%, p = 0.49, OR = 1.2, 95%CI: 0.7-2.3). CONCLUSION: In our population, we could not establish a relationship between MUTYH and breast cancer. These findings highlight the necessity for a careful interpretation when assessing the role of MUTYH mutations in breast cancer risk.

Immune Checkpoint Inhibitor-Related Stress Cardiomyopathy: Differential Diagnosis and Key Role of Cardiac Imaging.

A 76-year-old man with stage IV urothelial carcinoma who was receiving atezolizumab presented with dyspnea, elevated cardiac biomarkers, new negative T waves, and left ventricular apical akinesia. Coronary angiography results were normal. Immune checkpoint inhibitor-related myocarditis was suspected, and high-dose corticosteroid treatment was started. Cardiac magnetic resonance showed apical edema, suggesting stress cardiomyopathy. (Level of Difficulty: Beginner.).

Cancer survivors referred to a long-term survivorship outpatient service within academic medical oncology: descriptive study.

PURPOSE: Long-term cancer survivors (LTCS) are a vulnerable and continued growing population. To date, only few studies have been conducted in the Spanish population; none of them with a comprehensive analysis of the most common problems identified for cancer survivors in order to improve their care and quality of life. METHODS: We conducted an observational descriptive study in 347 patients recruited between January 2015 and December 2016 from our newly created medical office for the specific care and follow-up of LTCS. Variables that describe the medical history were completed by the oncologist and measures on common problems previously reported for LTCS, related to cancer diagnosis and treatment, function, lifestyle, and emotional concerns, were collected from the patient. RESULTS: The mean age of our patients was 65.1 years at the time of the study and a median time without any antitumor treatment of 5.7 years. At the time of cancer diagnosis, 298 patients (85.9%) had at least one related chronic disease and 184 patients (53%) were retired. In addition, in 17.9% of those who continued working, income had been reduced. The incidence of health problems showed an increase during follow-up, even after 5 years, and required evaluation in an emergency department in 157 cases (45.3%). Regardless of age or sex, 239 patients (68.9%) had a significant decrease in sexual activity and 120 (34.6%) were diagnosed with clinical depression. CONCLUSIONS: LTCS are patients with significantly high socioeconomic, labor, sexual, health, and psychological problems, 5 years after completion of cancer treatment, especially in older survivors. IMPLICATIONS FOR CANCER SURVIVOR: Common concerns of LTCS were identified and are consistent across many countries. It is important to realize that even 5 or so years following treatment, both medical and non-medical problems can exist and may need attention by an expert.

[Hospital tumor registry in the Hospital La Paz (Spain)]. / Registro hospitalario de tumores. Experiencia del Hospital La Paz.

INTRODUCTION: We present the case for the establishment of hospital tumour registries in order to facilitate the use of epidemiological data and the development of preventive policies. MATERIAL AND METHODS: Retrospective descriptive analysis of the data of the tumour registry of the Hospital "La Paz" including tumoral location (ICD-O), diagnostic method, tumour grade and treatment. RESULTS: 1987 cases were included. Median age at diagnosis was 66.2 years; 53.3% of cases were male and 46.7 female. The most frequent tumoral sites recorded were the digestive tract, skin, breast and urinary tract. The most common diagnostic method used was biopsy (83.1%), followed by cytology (5.7%). 84.5% of cases were originally recorded as localized disease, whilst 15.4% were disseminated. Surgery was the most common treatment (78.8%), followed by systemic therapy (16.2%). CONCLUSION: The establishment of hospital tumour registries should be prioritized, in order to collect epidemiological data which will enhance our understanding of cancer.