Julia Giner

Palbociclib has shown survival benefits in hormone receptor (HR)-positive and human epidermal growth factor receptor 2 (HER2)-negative locally advanced or metastatic breast cancer. At present, however, no genetic predictors of palbociclib-related hematological toxicity have been validated for clinical use. The aim of this study was to evaluate whether genetic variants are associated with palbociclib toxicity and patient prognosis. Multicenter study of 113 patients with HR-positive, HER2-negative locally advanced or metastatic breast cancer treated with palbociclib plus endocrine therapy. Genotyping of DNA from blood samples was performed to determine 18 variants in seven target genes (CYP3A4, SULT2A1, ABCB1, ABCG2, NR1I2, POR, and CDKN1B). Association analyses were performed to assess the relationship between the genetic variants and treatment-related toxicity and survival outcomes. Sixty-seven patients (59.3%) developed grade 3/4 neutropenia, 62 (54.9%) experienced disease progression, and 43 (38.1%) died. Although none of the univariate associations remained significant after Bonferroni correction, the multivariate analysis, adjusted for clinical variables, revealed several nominally significant associations. The NR1I2 gene variants rs6785049 (p = 0.01) and rs3732360 (p = 0.009) were associated with grade 3/4 neutropenia. The NR1I2 rs6785049 variant was associated with palbociclib treatment interruption (p = 0.03) and with worse progression-free (p = 0.003) and overall survival (p = 0.02). The findings of this exploratory study suggest potential associations between the NR1I2 rs6785049 variant and treatment toxicity and survival outcomes in patients with HR-positive, HER2-negative locally advanced or metastatic breast cancer treated with palbociclib. However, these hypothesis-generating findings need to be independently validated.

Since the beginning of the COVID-19 pandemic, the use of telehealth was rapidly implemented without previous evidence. The ONCOTELEMD study aimed to evaluate the opinion of patients attended via telemedicine during this period and to study factors that condition patient preferences on its use. Included patients had a confirmed cancer diagnosis and were contacted by telephone between 13 March and 30 April 2020, in the Medical Oncology Service of Hospital Parc Taulí, Sabadell. A 12-question survey was presented to them between 4 February and 19 April 2021. Statistical analysis was carried out using chi-square and multivariable logistic regression tests. Six hundred forty-six patients were included; 487 responded to the survey. The median age was 68 years (27–90), 55.2% were female. Most patients had a surveillance visit (65.3%) and were diagnosed with colorectal or breast cancer (43% and 26.5%, respectively); 91.8% of patients were satisfied, and 60% would accept the use of telemedicine beyond the pandemic. Patients aged more than 50 years (OR 0.40; 95% CI, 0.19–0.81; p = 0.01) and diagnosed with breast cancer (OR 0.45; 95% CI, 0.26–0.69; p < 0.001) were less predisposed to adopt telehealth in the future. Patients agreed to be informed via telehealth of scan or lab results (62% and 84%, respectively) but not of new oral or endovenous treatments (52% and 33.5%, respectively). Additionally, 75% of patients had a medium or low-null technologic ability, and 51.3% would only use the telephone or video call to contact health professionals. However, differences were found according to age groups (p < 0.0001). In total, patients surveyed were satisfied with telemedicine and believed telehealth could have a role following the COVID-19 pandemic. Moreover, our results remark on the importance of individualizing the use of telehealth, showing relevant data on patient preferences and digital literacy.