RESUMO
La leucemia linfoblástica aguda constituye la neoplasia infantil más frecuente. Los tratamientos actuales posibilitan más del 80% de supervivencia libre de enfermedad por cinco años. En el 2000, se probó un protocolo de quimioterapia llamado leucemia linfoblástica intercontinental Berlín-Frankfurt-Münster (ALLIC BFM). El proceso investigativo se realizó mediante la metodología PRISMA, con el propósito de sistematizar la información acerca de la supervivencia de los pacientes pediátricos con leucemia linfoblástica aguda tratados con el uso del protocolo de quimioterapia ALLIC BFM en sus versiones de 2002 o 2009. La supervivencia global en pacientes donde se utilizó el protocolo de 2002 fue del 52% al 91,7% y la libre de enfermedad fue del 45% a 83,3%; mientras que, con el uso del protocolo 2009 se reportó una supervivencia global del 71,1% al 90% y la libre de enfermedad fue del 69,4% al 90,3%. Los principales factores que afectaron la supervivencia fueron las complicaciones relacionadas con el tratamiento, los pacientes de alto riesgo y la medicación insuficiente.
Acute lymphoblastic leukemia is the most common childhood neoplasia. Current treatments allow more than 80% disease-free survival for five years. In 2000, a chemotherapy protocol called Berlin-Frankfurt-Münster intercontinental lymphoblastic leukemia (ALLIC BFM) was tested. The investigative process was carried out using the PRISMA methodology. This study aimed to systematize the information about the survival of pediatric patients with acute lympho-blastic leukemia treated with the ALLIC BFM chemotherapy protocol in its 2002 or 2009 versions. 52% to 91.7% of patients showed an overall survival in patients where the 2002 proto-col was used, and disease-free was from 45% to 83.3%; while, with the use of the 2009 protocol, an overall survival of 71.1% to 90% was reported, and disease-free survival was 69.4% to 90.3%. The main factors affecting survival were treatment-related complications, high-risk patients, and insufficient medication.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , População , Sobrevida , Leucemia , Pacientes , Terapêutica , Tratamento FarmacológicoRESUMO
BACKGROUND: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. CASE PRESENTATION: A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was clinically, cytogenetically and molecularly analysed. Clinical examination revealed congenital anomalies, including microcephaly, prominent nose, micrognathia, low set ears, bilateral clinodactyly of the fifth finger, small sacrococcygeal dimple, short stature and mental retardation. Cytogenetic studies showed a mosaic karyotype, mos 46,XX,r(4)(p16.3q35.2)/46,XX, with a ring chromosome 4 from 75 to 79% in three studies conducted over ten years. These results were confirmed by fluorescence in situ hybridization (FISH). Loss of 1.7 Mb and gain of 342 kb in 4p16.3 and loss of 3 Mb in 4q35.2 were identified by high-resolution mapping array. CONCLUSION: Most cases with ring chromosome 4 have deletion of genetic material in terminal regions; however, our case has inv dup del rearrangement in the ring chromosome formation. Heterogeneous clinical features in all cases reviewed are related to the amount of genetic material lost or gained. The application of several techniques can increase our knowledge of ring chromosome 4 and its deviations from typical "ring syndrome."
