Mutation status and immunoglobulin gene rearrangements in patients from northwest and central region of Spain with chronic lymphocytic leukemia.

The aim of this study was to investigate the frequency and mutation status of the immunoglobulin heavy variable chain (IGHV) in a cohort of 224 patients from northwest and central region of Spain diagnosed with chronic lymphocytic leukemia (CLL), and to correlate it with cytogenetic abnormalities, overall survival (OS) and time to first treatment (TTFT). 125 patients had mutated IGHV, while 99 had unmutated IGHV. The most frequently used IGHV family was IGHV3, followed by IGHV1 and IGHV4. The regions IGHV3-30, IGHV1-69, IGHV3-23, and IGHV4-34 were the most commonly used. Only 3.1% of the patients belonged to the subfamily IGHV3-21 and we failed to demonstrate a worse clinical outcome in this subgroup. The IGHV4 family appeared more frequently with mutated pattern, similar to IGHV3-23 and IGHV3-74. By contrast, IGHV1-69 was expressed at a higher frequency in unmutated CLL patients. All the cases from IGHV3-11 and almost all from IGHV5-51 subfamily belonged to the group of unmutated CLL.

Identification of a novel recurrent gain on 20q13 in chronic lymphocytic leukemia by array CGH and gene expression profiling.

BACKGROUND: The presence of genetic changes is a hallmark of chronic lymphocytic leukemia (CLL). The most common cytogenetic abnormalities with independent prognostic significance in CLL are 13q14, ATM and TP53 deletions and trisomy 12. However, CLL displays a great genetic and biological heterogeneity. The aim of this study was to analyze the genomic imbalances in CLL cytogenetic subsets from both genomic and gene expression perspectives to identify new recurrent alterations. PATIENTS AND METHODS: The genomic imbalances and expression levels of 67 patients were analyzed. The novel recurrent abnormalities detected with bacterial artificial chromosome array were confirmed by FISH and oligonucleotide microarrays. In all cases, gene expression profiling was assessed. RESULTS: Copy number alterations were identified in 75% of cases. Overall, the results confirmed FISH studies for the regions frequently involved in CLL and also defined a new recurrent gain on chromosome 20q13.12, in 19% (13/67) of the CLL patients. Oligonucleotide expression correlated with the regions of loss or gain of genomic material, suggesting that the changes in gene expression are related to alterations in copy number. CONCLUSION: Our study demonstrates the presence of a recurrent gain in 20q13.12 associated with overexpression of the genes located in this region, in CLL cytogenetic subgroups.

Sangre y Cirugía. EStrategia de Ahorro en cirugía cardiaca / Blood and Surgery. Strategic saving in cardiac surgery

El incremento de intervenciones quirúrgicas y su mayor complejidad y agresividad, especialmente en cirugía cardiovascular y trasplantes, junto con el envejecimiento de la población ha supuesto un considerable aumento de la demanda de transfusión sanguínea y derivados hemáticos. Los riesgos médicos inherentes al uso de sangre homóloga, el rechazo por motivaciones personales, éticas o creencias religiosas y una insuficiente disponibilidad de hemoderivados consecuencia de la escasezde donaciones, ha condicionado la necesidad del desarrollo de procesos de ahorro de sangre en cirugía y la búsqueda de técnicas alternativas a la transfusión. Problemática que alcanza su máxima expresión en cirugía cardiaca bajo circulación extracorpórea, como consecuencia del alto consumo de sangre de los enfermos cardiológicos intervenidos. Con la experiencia que aporta un promedio de quinientas cirugías anuales de corazón se realiza una revisión sobre las diferentes medidas y procedimientos asociados al ahorro de sangre en cirugía, especialmente en cirugía cardiovascular (AU)

The increase in the number of operations and their greater complexity and aggressiveness, especially in cardiovascular surgery and transplants, together with the aging of the population, has entailed an increase in the demand for transfusion and haematological derivates. The inherent medical risks of homolog blood usage, rejection for personal motivations, ethical and religious beliefs and insufficient availability of haematological derivates as a consequence of the shortage of donations, have conditioned the necessity for the development of processes for saving blood during surgery and the search for alternative techniques to transfusion. This is a problem which has its highest repercussions in cardiac surgery with cardio-pulmonary by-pass because of the high consumption of blood of patients undergoing cardiac surgery. With the experience of approximately 500 operations per year a review of the different measures and procedures associated with saving blood in surgery has been carried out, especially with regard to cardiovascular surgery (AU)

Reinfusión de sangre procedente del drenaje mediastínico en cirugía cardiaca / Autotransfunsion of shed mediastinal blood in cardiac surgery

El considerable incremento de intervenciones quirúrgicas, el desarrollo de técnicas complejas, edad media cada vez más elevada,y la mayor comorbilidad que acompaña a los pacientes intervenidos, ha motivado un mayor consumo de sangre homóloga.La cirugía cardiaca, por varios factores, fundamentalmente el empleo de la derivación cardiopulmonar o circulaciónextracorpórea, determina una utilización importante de sangre y hemoderivados. Esta situación de creciente demanda juntocon una oferta hospitalaria insuficiente a partir de las donaciones hace difícil mantener un balance adecuado entre demanday disponibilidad. En consecuencia se plantean y desarrollan diversas estrategias de ahorro de sangre en cirugía. La autotransfusiónprocedente del drenaje mediastínico, de uso habitual en algunas unidades de cirugía cardiaca, es un procedimientoaún sometido a debate con opiniones diversas y variadas en cuanto a su capacidad de ahorrar recursos sanguíneosy garantía en cuanto a problemas derivados de su uso. En el presente trabajo nos planteamos el análisis de la reinfusión postoperatoriade sangre como alternativa a la transfusión homóloga en cirugía cardiaca con los siguientes objetivos: Verificarque se trata de un método factible y de fácil aplicación, y en segundo lugar analizar y evaluar las alteraciones de la coagulación,en el paciente y en la sangre recogida, implícitas a la aplicación de esta técnica (AU)

The growing number of surgical interventions, the development of high complexity techniques, the higher comorbility and theincrease in the average age of patients, has lead to a greater spent of homologous blood. By means of many factors, especiallybecause of the cardiopulmonary bypass, undergoing cardiac surgery determines the use of an important amount ofblood and other by-products. This background of an increasing demand and an insufficient offer of blood from donations,makes it very difficult to maintain an adequate balance between demand and availability. In answer to this situation, newstrategies in blood saving are being developed. The autotransfusion of mediastinal shed blood is an usual technique in manycardiac surgery units, nevertheless there is still an ongoing debate regarding to it’s safety and capability to save blood-bankresources. In this study, we carried out the analysis of mediastinal shed blood transfusion in cardiac surgery as an alternativeto homologous blood transfusion with this aims: to verify that it is a feasible and easy to carry out method, and in secondplace, to analyze and evaluate the alterations of the coagulation in patients and in the recovered blood (AU)