Alteraciones cromosómicas en la leucemia linfoblástica aguda / Cytogenetic abnormalities in acute lymphoblastic leukemia

El análisis citogenético de las células blásticas en niños con leucemia linfoblástica aguda (LLA) ha permitido el reconocimiento de alteraciones cromosómicas específicas de gran importancia pronóstica. La mayoría de los casos de LLA tienen cariotipos alterados, bien en el número de cromosomas (ploidía) bien como cambios estructurales: translocaciones, deleciones o inversiones. Una gran parte de estas alteraciones se asocian con determinados tipos citomorfológicos e inmunológicos; sin embargo, el mayor impacto en el tratamiento de pacientes con LLA ha sido la demostración de que la citogenética es un indicador pronóstico independiente de otras variables clínicas. Determinados cariotipos se asocian con un buen pronóstico, mientras que otros indican un peor resultado, lo cual ha llevado a la administración de terapias alternativas en función del riesgo. La hiperdiploidía con número modal mayor de 50 cromosomas representa el 25-30% de los casos y se relaciona con los mejores resultados, mientras que translocaciones como la t(9;22) y la t(4;11) se asocian a los peores resultados. Este trabajo reúne las anomalías cromosómicas más importantes en LLA, su valor pronóstico y sus implicaciones terapéuticas (AU)

[Cytogenetic abnormalities in acute lymphoblastic leukemia]. / Alteraciones cromosómicas en la leucemia linfoblástica aguda.

Cytogenetic analysis of blast cells in childhood acute lymphoblastic leukemia has led to the recognition of specific non-random chromosomal abnormalities with prognostic value. Most patients with ALL show karyotype abnormalities, either in chromosome number (ploidy) or as structural changes such as translocations, inversions, or deletions. Many of these chromosomal alterations are associated with specific cytomorphological and immunological types. The greatest impact on patient management has been the finding that the cytogenetic result is an independent prognostic indicator. Certain karyotypes are associated with a favorable prognosis while others indicate a poor outcome. This has led to the administration of alternative therapies according to risk. For instance, hyperdiploidy with a modal chromosome number of 51 or greater, which represents 25-30 % of all cases of ALL, has proved to have the most favorable prognosis among established ploidy groups, whilst translocations such as the Philadelphia translocation t(9;22) and t(4;11) are associated with a poor prognosis. This study focuses on the most important chromosomal abnormalities found in childhood ALL and their prognostic and therapeutic implications.

Karyotype and prognosis in adult Spanish acute lymphoblastic leukemia.

The aim of the study was to define the frequency and prognostic significance of acquired chromosomal abnormalities in our adult population and to ascertain whether karyotype represents a significant prognostic factor in adult patients with acute lymphoblastic leukemia (ALL) independently of the new intensive chemotherapy programs and initial clinical characteristics.

[Graves-Basedow's disease in childhood and adolescence: clinical and biologic features in 49 patients]. / Enfermedad de Graves-Basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos.

INTRODUCTION: Graves' disease is rare in childhood and adolescence. PATIENTS AND METHODS: Six boys and 43 girls between the ages of 2 and 18 years were evaluated. All presented diffuse goiter and symptomatology of hyperthyroidism. Concentrations of T4, FT4, T3 and TSH were determined by RIA with various sensitivities during the study. Thyroid antibodies were determined by hemagglutination. All patients were treated with antithyroid drugs. RESULTS: In five patients, growth velocity increased. In a further five patients association with other autoimmune diseases was detected. Quetelet's index was between the 90th and 97th percentiles in five patients and between 3rd and 10th in eight. Biochemical results were as follows: T4: 282.41 +/- 1.1 nmol/1; FT4: 62.98 +/- 1.1 pmol/l; T3: 4.92 +/- 0. 07 nmol/l) and TSH: > 0.002-0.001 mU/l. Values of TSI/TRAb were 33. 23 +/- 1.95 U/l. Four total remissions and 1 partial remission were observed. Four patients underwent surgery and eight received radioiodine. CONCLUSIONS: Few remissions were obtained with medical treatment. Radioiodine seems to be a therapeutic alternative.

Enfermedad de graves-basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos / Grave's disease in childhood and adolescence: clinical and biochemical aspects in 49 patients

INTRODUCCIÓN: La enfermedad de Graves-Basedow es rara en la infancia y la adolescencia. PACIENTES Y MÉTODOS: Se han evaluado 6 niños y 43 niñas, con edades comprendidas entre 2 y 18 años. Todos presentaban un bocio difuso y sintomatología de hipertiroidismo. Las concentraciones de T4, FT4, T3 y TSH se determinaron por radioinmunoanálisis con diferente sensibilidad a lo largo del tiempo y los anticuerpos, por hemaglutinación. Todos fueron tratados con fármacos antitiroideos. RESULTADOS: En 5 casos se detectó un aumento de la velocidad de crecimiento y en otros 5 había una asociación con otras autoinmunopatías. El índice de Quetelet estaba entre los percentiles 90 y 97 en 5 casos, y entre 3 y 10 en 8 casos. Los resultados bioquímicos fueron: T4 282,41 ñ 1,1 nmol/l; FT4 62,98 ñ 1,1 pmol/l; T3 4,92 ñ 0,07 nmol/l; TSH < 0,002 mU/l. Los valores de TSI/TRAb fueron 33,23 ñ 1,95 U/l. Se han obtenido 4 remisiones totales y una parcial. En 4 ocasiones se recurrió a cirugía y 8 pacientes recibieron 131I. CONCLUSIÓN: Se han obtenido pocas remisiones con el tratamiento médico y el radioyodo parece ser una terapéutica alternativa (AU)

Acute megakaryoblastic leukemia in a patient with a familial pericentric inversion of chromosome 8, inv(8)(p23.1q13).

A 7-month-old girl was diagnosed with acute megakaryoblastic leukemia and, at the time of diagnosis, the karyotype was 48-50,XX,+4,+5,del(5)(p13),del(6)(q14), +8,inv(8)(p23.1q13),der(13) t(13;?;?),+19,-20,+21,+22,+mar [cp20]. At relapse, there was clear evidence of her constitutional status as a carrier of the pericentric inversion (8)(p23.1q13). It was a familial inversion affecting the patient's maternal lineage; a history of cancer and bleeding anomalies in carriers of the inversion led us to consider their nonrandom association with these pathologies.