ABSTRACT
Purpose: The purpose of this study was to disclose the variability of pathways currently taken in the treatment of adolescent patients from diagnosis to final follow-up with a view to developing a more homogenous system. Patients & methods: A cross-sectional, observational and retrospective study of the cancer diagnosis and assignment to medical care teams in adolescent patients (12-20 years) from January 2008 to December 2018 was conducted. A total of 345 adolescent patients aged between 12 and 20 years, diagnosed with cancer and treated at Hospital Clinico Universitario Virgen de la Arrixaca were included. Results: CNS tumors, followed by leukemia were the most frequent tumors. At the time of diagnosis, the highest incidences of patients were assisted in the pediatrics service adult oncology service (21.7%) and hematology (11%). Conclusion: Our aim is to highlight the need for a better transition for patients from pediatric to adult oncology and hematology services.
Lay abstract This study shows the reality of the care of adolescent cancer patients in a hospital in southern Spain. A cross-sectional, observational and retrospective study of cancer diagnoses and assignment to medical care teams in adolescent patients (1220 years) from January 2008 to December 2018 was conducted. A total of 345 adolescent patients between 12 and 20 years old who had a cancer diagnosis and were treated at Hospital Clinico Universitario Virgen de la Arrixaca were included. CNS tumors, followed by leukemia were the most frequent. At the time of diagnosis, the patients were most commonly attended by the pediatrics service, which concentrates 46.5% of the study population. There is great variability in the treatment and follow-up of the same tumors. The need for a better transition for patients from pediatric to adult oncology and hematology services is demonstrated.
Subject(s)
Critical Pathways/organization & administration , Neoplasms/therapy , Patient Care Team/organization & administration , Quality Improvement , Transition to Adult Care/organization & administration , Adolescent , Aftercare/organization & administration , Aftercare/statistics & numerical data , Child , Critical Pathways/statistics & numerical data , Cross-Sectional Studies , Female , Humans , Incidence , Male , Medical Oncology/organization & administration , Medical Oncology/statistics & numerical data , Neoplasms/diagnosis , Neoplasms/epidemiology , Pediatrics/organization & administration , Pediatrics/statistics & numerical data , Referral and Consultation/organization & administration , Referral and Consultation/statistics & numerical data , Retrospective Studies , Tertiary Care Centers/organization & administration , Tertiary Care Centers/statistics & numerical data , Transition to Adult Care/statistics & numerical data , Young AdultABSTRACT
RAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a mutation analysis of these genes was performed on non BRCA1/2 families. RAD51C and RAD51D genes were analyzed in 141 and 77 families, respectively. The analysis included direct sequencing and multiple ligation probe analysis. The RAD51C pathogenic variant c.404Gâ¯>â¯A was identified in a breast and ovarian cancer family (0.7%), while the RAD51D pathogenic variant c.694Câ¯>â¯T was described in an ovarian cancer family (1.3%). Moreover, three unknown clinical significance variants were detected: c.307Tâ¯>â¯G in RAD51C, and c.413Aâ¯>â¯G and c.715Câ¯>â¯T in RAD51D. No large genomic rearrangements (LGRs) were found. RAD51D carriers suffered from premenopausal ovarian tumors. These results increase our knowledge about the RAD51C and RAD51D mutation spectrum and support the notion that these genes should be included in the gene panel testing performed on patients with hereditary breast and ovarian cancer syndrome.
