Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.

BACKGROUND AND AIMS: Cancer predisposition goes beyond BRCA and DNA Mismatch Repair (MMR) genes since multi-gene panel testing has become the routine diagnostic tool for hereditary cancer suspicion (HCS) cases. CHEK2 and PALB2 are some of the foremost-mutated non-BRCA/MMR actionable genes in families with a significant familial aggregation. Therefore, the purpose of this work is to unravel which tumours other than breast, ovary or colorectal display the patients. MATERIALS AND METHODS: We have analysed 528 probands that meet the inclusion criteria for Hereditary Breast and Ovarian Cancer and Lynch Syndrome established by our Hereditary Cancer Regional Program with a customized 35 genes-panel by using Ion Torrent™ Technology. RESULTS: We have identified pathogenic variants (PVs) in 61 families (1.55%), of which more than half (31 probands) harboured PVs in CHEK2 and PALB2 genes. Ours results reveal that not only were PVs CHEK2 and PALB2 carriers more likely to have family history of cancer not limited to breast, ovarian or colorectal cancers, but also they are prone to other extracolonic cancers, noteworthy endometrial and gastric cancers. CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.

Pembrolizumab as first-line treatment for advanced NSCLC in older adults: A phase II clinical trial evaluating geriatric and quality-of-life outcomes.

OBJECTIVES: Since specific data on immunotherapy in older adults with advanced non-small cell lung cancer (aNSCLC) are scarce, we designed this study to determine the overall survival (OS) at one year of first-line pembrolizumab in patients older than 70 years with aNSCLC expressing PD-L1. Secondary objectives included progression-free survival, disease-specific survival, response rate, tolerability, quality of life (QoL) changes, and geriatric assessments. MATERIALS AND METHODS: A single-arm, open-label, phase II clinical trial was carried out by the Spanish Lung Cancer Group between February 2018 and November 2019 at ten active sites in Spain. We included patients 70 years old and older with histological or cytological documented stage IIIB or IV aNSCLC and PD-L1 expression ≥ 1%. Each subject received 200 mg of intravenous pembrolizumab every three weeks for a maximum of two years. RESULTS: 83 patients were recruited for the study and 74 were finally analysed. Most were male (N = 64, 86.5%) and former smokers (N = 51, 68.9%). 24 patients (32.4%) completed at least one year of treatment, 62 (83.7%) discontinued treatment, and 30 (40.5%) experienced disease progression. The median follow-up of our cohort was 18.0 months [range: 0.1-47.7] and 46 patients (62.2%) died during the period of study. The estimated OS at one year was 61.7% (95% CI: 49.6-71.8%) and the median OS of our cohort was 19.2 months (95% CI: 11.3-25.5). QoL tended to improve throughout the study, although the differences were not statistically significant. The main geriatric scores remained stable, except for a worsening in nutritional status (P = 0.004) and an improvement in frailty (P = 0.028). CONCLUSION: Our results support treating older adults with aNSCLC expressing PD-L1 with pembrolizumab in monotherapy. The stability of most geriatric scores and the positive trend on the patients' QoL should be highlighted, although our results did not reach statistical significance.

Tratamiento psicológico de las náuseas y vómitos anticipatorios inducidos por quimioterapia por radioterapia / No disponible

La emesis producida por la quimioterapia y radioterapia puede afectar significativamente la calidad de vida de los pacientes con cáncer. La emesis anticipatoria es una respuesta condicionada que aparece en pacientes antes de recibir el ciclo de quimioterapia ya que se basa en un aprendizaje de una experiencia negativa con dicho tratamiento. El objetivo de este artículo es revisar los tratamientos eficaces, farmacológicos y psicológicos, para el control de la emesis anticipatoria. El mejor tratamiento para prevenir la emesis anticipatoria es el control de la emesis aguda y tardía. Los nuevos fármacos antieméticos, como el palonosetrón o el aprepitant, suelen evitar las náuseas y los vómitos por la quimioterapia, pero no mejoran las náuseas y vómitos anticipatorios. Las intervenciones conductuales, como la relajación muscular progresiva y el entrenamiento en desensibilización sistemática, deben considerarse métodos importantes para la prevención y el tratamiento de la emesis anticipatoria (AU)

Chemotherapy-induced or radiotherapy-induced nausea and vomiting can significantly affect patients´ quality of life. Anticipatory emesis is a conditioned response which occurs before patients receive their next chemotherapy cycle. It is based on the learning of a patient´s negative experience. The aim of this article is to review effective treatments, pharmacological and psychological, for the control of anticipatory emesis. The best treatment to prevent anticipatory emesis is the control of acute and delayed emesis. The new antiemetic drugs, palonosetron and aprepitant, are usually able to prevent nausea and vomiting from chemotherapy, but not to improve anticipatory nausea and vomiting. Behavioral interventions such as progressive muscle relaxation training and systematic desensitization should be considered important methods for preventing and treating anticipatory emesis (AU)

Evaluación de la astenia en pacientes oncológicos avanzados y una propuesta de protocolo de intervención psicológica / No disponible

La astenia es un síntoma con una elevada incidencia en pacientes con cáncer. Es un fenómeno multifactorial que deteriora la calidad de vida del paciente, con repercusiones físicas, psicológicas, sociales y laborales. Es uno de los síntomas que más preocupan al enfermo, incluso más que el dolor, y al que se le presta poca atención. Por tanto se infravalora su importancia y no se aplican los medios diagnósticos necesarios para identificar sus causas y poder disminuirlas en la medida de lo posibl (AU)

Fatigue is a symptom with a high incidence in patients with cancer. It is a multifactorial phenomenon, which deteriorates the quality of life of patients, from physical, psychological, social and working points of view. It is one of the symptoms that most concern the patient, even more than pain, medically it is paid little attention, therefore underestimating its importance and not applying the diagnostic tools necessary to identify its causes and to reduce it as far as possible. The aim of this paper is to assess the subjective perception of fatigue in advanced cancer patients, the subjective distress that produces the situation they are living and to assess whether they use strategies to minimize the feeling of tiredness. We consider it necessary to establish a consensus on the measuring instruments used to compare results.We have developed a psychological intervention guideline for management fatigue by promoting the adaptation and adjustment of advanced cancer patients to illness and therefore increase sense of well being and quality of life (AU)

Biweekly docetaxel and vinorelbine with granulocyte colony-stimulating factor support for patients with anthracycline-resistant metastatic breast cancer.

This phase II trial evaluated the efficacy and toxicity of vinorelbine 25 mg/m2 plus docetaxel 60 mg2/m administered on day 1, every 2 weeks with granulocyte colony-stimulating factor support (G-CSF, 5 microg/kg/day, days 3-7) as primary prophylaxis in patients with histologically confirmed metastatic breast cancer (MBC) and previously treated with anthracyclines in the adjuvant or in the first-line setting. A total of 48 patients received 352 cycles (median 8, range 2-10). All patients were included in the efficacy and safety evaluation on an intent-to-treat analysis. Eight patients (17%) showed a complete response and 14 patients (29%) showed a partial response. Overall response rate was 46% [95% confidence interval (CI) 33-60]. The median duration of response was 10.0 months. With a median follow-up of 18.0 months, the median time to progression was 11.9 months and the median overall survival was 27.1 months. The most frequently reported grade 3/4 hematological toxicity was neutropenia (19% of patients, 4% of cycles). Febrile neutropenia was reported in six patients (13%) and 7 cycles (2%), but no toxic deaths were reported. The most common grade 3/4 non-hematological toxicity was asthenia (17% of patients, 6% of cycles) and nail toxicity (15% of patients, 3% of cycles). In conclusion, biweekly docetaxel plus vinorelbine with G-CSF support is active and well tolerated as chemotherapy for patients with MBC resistant to anthracyclines. G-CSF support is recommended for lowering the incidence and severity of neutropenia and febrile neutropenia.