ABSTRACT
Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only 400 cases have been reported in the literature, and the severity of the features varies among individuals with the condition. Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physical features such as short stature, chronic facial erythema, poikiloderma in face and extremities, microtia and microcephaly. However, the genetic test demonstrated that the patient carried two pathogenic variants resulting in compound heterozygous in the RECQL4 gene (c.2269C>T and c.2547_2548delGT). He subsequently developed a calcaneal osteosarcoma, which was successfully treated, and has currently been oncologic disease-free for 3 years.
Subject(s)
Bloom Syndrome , Rothmund-Thomson Syndrome , Male , Humans , Middle Aged , Rothmund-Thomson Syndrome/diagnosis , Rothmund-Thomson Syndrome/genetics , RecQ Helicases/genetics , Bloom Syndrome/diagnosis , Bloom Syndrome/geneticsABSTRACT
Objective Clinical trials have shown that Nab-paclitaxel is more effective than paclitaxel in the treatment of metastatic breast cancer (MBC). Although the incidence of cancer increases with age, elderly patients are under-represented in clinical trials and tend to receive suboptimal treatment to avoid toxicity. The main aim of our study was to compare progression-free survival (PFS) among patients older and younger than 65 years treated with Nab-paclitaxel in real-world clinical practice. A secondary aim was to assess overall survival (OS) as well as the response rate and toxicity. Methods and patients This single-centre study retrospectively analyzed a cohort of 60 patients with MBC treated with Nab-paclitaxel monotherapy in Hospital Clínico Lozano Blesa de Zaragoza. Results The median PFS was 5.92 months (3.6211.2) in patients<65 years and was 5.06 months (4.3112.4) in those ≥65 years (p=0.868). The median OS was 26.9 months (18.630.7) in patients < 65 years and was 20.3 months (11.433.6) in those ≥65 years (p=0.138). Conclusions Although patients in the cohort studied had a median age of 60.45 years, which is higher than the median age in most clinical trials, PFS and OS in conditions of real-world clinical practice were similar to previously published data. The results of the use of Nab-paclitaxel in patients older than 65 years are similar to those in younger patients, with no additional toxicity problems. The results of our study agree with those of other notable studies. (AU)
Objetivo En los ensayos clínicos se ha demostrado que el Nab-paclitaxel es más eficaz que el paclitaxel en el tratamiento del cáncer de mama metastásico (CMM). Aunque la incidencia del cáncer aumenta con la edad, los pacientes ancianos están infrarrepresentados en los ensayos clínicos, y tienden a recibir un tratamiento subóptimo para evitar toxicidades. El objetivo principal de nuestro estudio es comparar la supervivencia libre de progresión (SLP) entre las mayores y menores de 65 años tratadas con Nab-paclitaxel en la práctica clínica real. El objetivo secundario es evaluar la supervivencia global (SG), así como la tasa de respuestas y la toxicidad. Métodos y pacientes Se ha analizado de forma unicéntrica y retrospectiva, una cohorte de 60 pacientes con CMM tratadas con Nab-paclitaxel en monoterapia en el Hospital Clínico Lozano Blesa de Zaragoza. Resultados Mediana SLP<65 años: 5,92 meses (3,62-11,2) y ≥65 años, mediana: 5,06 meses (4,31-12,4) (p=0,868). Mediana de SG en <65 años: 26,9 meses (18,6-30,7) y ≥65 años: 20,3 meses (11,4-33,6) (p=0,138). Conclusiones Aunque las pacientes de la cohorte estudiada tienen una mediana de edad de 60,45 años, que es superior a la mediana de edad de la mayoría de los ensayos clínicos, la SLP y la SG en condiciones de práctica clínica real son similares a los datos publicados anteriormente. En cuanto al uso de Nab-paclitaxel en pacientes de edad avanzada, se obtienen resultados similares a las de aquellas pacientes más jóvenes, sin observarse problemas de seguridad adicionales. Además, con los datos disponibles, los resultados son congruentes con los presentados en otros estudios de impacto. (AU)
