RESUMEN
BACKGROUND: Primary cardiac tumors are extremely rare; most are myxomas with a benign prognosis. However, primary sarcomas are highly aggressive and treatment options are limited. Radical surgery is often not feasible and conventional therapies provide only modest results. Due to the rare nature of primary cardiac tumors, there are no proper randomized studies to guide treatment. Their complexity requires alternative approaches in order to improve treatment efficacy. METHODS: We isolated DNA from 5 primary cardiac sarcomas; the quality of DNA from 3 of them was sufficient to perform high-resolution single nucleotide polymorphism (SNP) array analysis. RESULTS: In the present study, molecular karyotyping revealed numerous segmental chromosomal alterations and amplifications affecting actionable genes that may be involved in disease initiation and/or progression. These include chromosomal break flanking AKT2 in undifferentiated pleomorphic rhabdomyosarcoma, chromosomal break in promoter of TERT, and gain of CDK4 and amplification of MDM2 in inflammatory myofibroblastic tumor. We detected segmental break flanking MOS in high-grade myxofibrosarcoma. In addition, the high number of chromosomal aberrations in high-grade myxofibrosarcoma may cause multiple tumor-specific epitopes, supporting the study of immunotherapy treatment in this type of aggressive tumor. CONCLUSION: Our results provide a genetic rationale that supports an alternative, personalized therapeutic management of primary cardiac sarcomas.
RESUMEN
OBJECTIVES: The aim of this study was to evaluate outcomes in our department after surgery for obstructive hypertrophic cardiomyopathy and to establish the impact of a delay on the indication for surgery. METHODS: From January 1998 to February 2011, 69 patients with obstructive hypertrophic cardiomyopathy and left ventricular outflow tract obstruction at rest were operated on by the same team, and followed up for at least 1 year. We retrospectively analysed clinical data, echocardiography and ambulatory Holter electrocardiogram findings before surgery, early after surgery, at 3 months and annually at follow-up, to detect possible prognostic determinants. RESULTS: We performed isolated septal myectomy in 59 patients and a combined procedure in 10 patients. Mean outflow tract gradient decreased by 72.2 mmHg (SD 37.3) and there was a mean reduction in thickness of 8.2 mm (SD 5.8) in the interventricular septum. Functional capacity, measured as New York Heart Association class, and angina of effort improved significantly after surgery (P < 0.0001). In-hospital mortality rate was 1.44% for isolated myectomy and 4.35% for combined procedures. Global actuarial survival at 5-year follow-up was 87.4%, but if those patients who were in functional class II or less at the time of surgery were considered, survival rose to 100%. However, 43 patients (62.3%) with functional class III or higher were operated upon. CONCLUSIONS: Clinical, haemodynamic and mortality outcomes after surgery were excellent, especially in those patients with mild or few symptoms. However, in our location, surgery is still undertaken at an advanced stage of the natural history of the disease, which may adversely affect prognosis.