RESUMO
Despite advances in treatment, children with acute lymphoblastic leukemia (ALL) still experience drug resistance and relapse. Several gene mutations are involved in the onset of this disease and resistance to therapy. The present study examines the incidence of IKZF1, CDKN2A/B, PAX5, EBF1, ETV6, BTG1, RB1, JAK2, and Xp22.33 gene deletions/duplications associated with pediatric ALL in Iran and investigates the possible effect of these mutations on drug resistance. Three-year disease-free survival (3DFS) was evaluated for children diagnosed with Philadelphia negative precursor-B-cell ALL hospitalized at Sayed-al-Shohada Hospital, Isfahan-Iran, from January 2009 until December 2012. DNA was extracted from bone marrow slides, and ALL correlated gene deletions and duplications were measured using Multiplex Ligation-dependent Probe Amplification (MLPA) method. The correlation between gene mutations and 3DFS was then assessed. Among the nine aforementioned investigated genes, 63% of samples showed at least one gene mutation. At least two concomitant genomic mutations were observed in 42% of samples. Pax5 deletion was the most prevalent gene mutation observed in 45% of cases, and showed significant negative impact on response to treatment. CDKN2A/B (9p21.3) gene deletion, and ETV6 (12p13.2) gene duplication also demonstrated negative effect on patient survival and contributed to a worse prognosis if concomitant with Pax5 gene deletion. ALL patients with one of the gene deletions including Pax5 and CDKN2A/B (9p21.3) or ETV6 (12p13.2) gene duplication are classified as high-risk patients and need more intensified protocols of treatment to improve their chance of survival.
Assuntos
Inibidor de Quinase Dependente de Ciclina p15/genética , Inibidor de Quinase Dependente de Ciclina p18/genética , Deleção de Genes , Regulação Leucêmica da Expressão Gênica , Fator de Transcrição PAX5/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , Adolescente , Antineoplásicos/uso terapêutico , Criança , Pré-Escolar , Inibidor de Quinase Dependente de Ciclina p15/imunologia , Inibidor p16 de Quinase Dependente de Ciclina , Inibidor de Quinase Dependente de Ciclina p18/imunologia , Resistencia a Medicamentos Antineoplásicos/genética , Feminino , Duplicação Gênica , Humanos , Lactente , Irã (Geográfico) , Masculino , Fator de Transcrição PAX5/imunologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/mortalidade , Células Precursoras de Linfócitos B/imunologia , Células Precursoras de Linfócitos B/metabolismo , Células Precursoras de Linfócitos B/patologia , Prognóstico , Proteínas Proto-Oncogênicas c-ets/imunologia , Proteínas Repressoras/imunologia , Análise de Sobrevida , Variante 6 da Proteína do Fator de Translocação ETSRESUMO
A retrospective study of 139 untreated staged III and IV epidermoid carcinomas of the upper aero digestive tract is reported concerning oropharynx, oral cavity, hypopharynx and larynx, all of them received as a first treatment, chemotherapy using a five days course of Cisplatinium (20 mg/m2/D) and 5FU (1,000 mg/m2/D). The aim of the trial was to determine: a) a free of disease survival and a global survival rate's increase, b) a more conservative treatment. The results of chemotherapy were clinically evaluated in two groups: Responders (a total or a more than 50% response), and no responders. The results were: on the tumor site: 64% responders (25% total response)--more in smaller lesion; on the lymphatic nodes: 54% responders (more in N1-N2). The results vary in inverse ratio to the stage of the lesion; usually, 2 cycles of chemotherapy are used but in case of efficiency: 2 to 6 cycles are provided increasing to 20% the rate of the total responders; toxicity of the drugs was neligible: 6 cases, 3 of them were renal insufficiency. The global survival rate at 3 months reaches 56.7%. The median line of survival reaches 32 months in responders reverse 15 months (NR); but there are no significant difference between the two groups concerning the recurrences, or the metastasis. The local treatment (after chemotherapy) decided in the 137 patients was surgery, in 40 cases and radiotherapy, in 97 cases (conservative treatment; 80%).(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/patologia , Cisplatino/administração & dosagem , Terapia Combinada , Feminino , Fluoruracila/administração & dosagem , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Análise de SobrevidaRESUMO
The authors study several cases of surgical revision in post-traumatic or secondary rhinoplasty. Cartilaginous grafts with temporal fascia are recommended. The removal of ear cartilage is performed via a posterior approach for the concha cartilage associated with a septum or an alar cartilage removal. They describe the delta graft associating a concha cartilage supported by a prop (auricular or septal) to repair a defect of the middle or lower third of the pyramid.