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• W34626883 abstract "Les sindromes limfoproliferatives croniques B (SLPC-B) son un grup divers de malalties que tenen en comu la proliferacio neoplasica i acumulacio de cel.lules limfoides de tipus B de tipus madur. Dins daquest grup, distingim basicament les leucemies i els limfomes. El diagnostic de les SLPC-B amb expressio leucemica es basa en lestudi integrat de la morfologia i limmunofenotip de les cel.lules leucemiques, aixi com de les caracteristiques citogenetiques i moleculars. Existeixen una serie dentitats que poden ser confoses facilment i requereixen un estudi exhaustiu que permeti la seva classificacio correcta. En el present treball sanalitzen tres daquestes entitats, la Leucemia Limfatica Cronica B atipica (LLC-Ba), el Limfoma de Cel.lules del Mantell (LCM) i el Limfoma Esplenic de la Zona Marginal (LEZM) amb la intencio de trobar marcadors citogenetics que permetin separar-les, de manera que sigui possible establir un diagnostic diferencial amb certesa. Tambe es fa esment de la limfocitosi B Policlonal Persistent (LBPP). Shan estudiat 27 LLC-Ba, 13 LCM, 19 LEZM i 1 LBPP amb tecniques de citogenetica convencional i hibridacio in situ, amb sondes centromeriques pels cromosomes 3, 12, 17 i 18, de locus especific per les regions 13q14 i 17p13 i de pintat cromosomic. Entre les LLC-Ba, un 37% han presentat alteracions citogenetiques i lalteracio citogenetica mes frequent ha estat la trisomia 12 (63%), mentre que les delecions de 13q14 i 17p13 shan detectat en % molt baix. Respecte els LCM, el 77% han presentat alteracions citogenetiques i dins daquests, en un 70% sha detectat la t(11;14)(q13;q32), alteracio citogenetica caracteristica daquesta entitat. Altres cromosomes implicats han estat: 1, 2, 9, 13 i 17 en forma dalteracions estructurals principalment. No sha detectat la presencia de trisomia 12 en cap pacient. En els LEZM, un 58% han presentat un cariotip alterat. Els cromosomes mes frequentment implicats han estat: 1, 3, 7, 8 i 14. Dels estudis inclosos en la tesi i daltres posteriors shan pogut definir la trisomia parcial del brac llarg del cromosoma 3 (+3q) i la delecioo del brac llarg del cromosoma 7 (del(7q)) com a alteracions mes frequents. No sha detectat presencia de t(11;14) en cap dels casos, i la trisomia 12, aixi com la delecio de 17p13 nomes sha detectat en un pacient. Daquest estudi es conclueix que les alteracions citogenetiques dels tres grups son clarament diferents i que el seu coneixement permet establir un millor diagnostic diferencial daquestes malalties.La LBPP es una entitat que encara no se sap si es una neoplasia de progressio lenta, o un fenomen reactiu. Sha inclos en lestudi amb la intencio de fer esment de la seva existencia i de la possibilitat de ser confosa amb alguna de les altres entitats.B-cell lymphoproliferative disorders (BCLPD) constitute a group of pathologies in which mature B cells proliferate and accumulate in different tissues. Among BCLPD, leukaemic and lymphomatous diseases can be distinguished. In the present work, BCLPD with leukaemic expression are studied, taking into account at the same time morphologic, immunophenotypic, cytogenetic and molecular data. It is remarkable that the diagnosis of some BCLPD with leukaemic expression can be difficult because of some similar characteristics. In these cases, an exhaustive study will be required to a correct classification. In this thesis, three different entities would be analyzed: atypical B-cell lymphocytic leukaemia (aCLL), mantle cell lymphoma (MCL) and splenic marginal zone B-cell lymphoma (SMZBCL). The aim of the present study was to study the above mentioned entities by means of conventional cytogenetics and in situ hybridization techniques to analyze if different cytogenetic markers could be identified to establish a differential diagnosis among them. In addition, persistent polyclonal B-cell lymphocytosis (PPBL) was included in the study. Twenty seven aCLL, 13 MCL, 19 SMZBCL and 1 (PPBL) were studied cytogenetically and using in situ hybridization probes for centromeric regions of chromosomes 3, 12, 17 and 18, and for specific locus 13q14 (Rb) and 17p13 (p53). Among aCLL, 37% presented cytogenetic aberrations, being trisomy 12 the most frequent abnormality (63%), besides, 13q14 and 17p13 deletions were found in low percentage. Regarding MCL, chromosomal aberrations were found in 77% of patients, and among them, 70% presented a t(11;14)(q13;q32). Other affected chromosomes were 1, 2, 9, 13 and 17. No patient presented trisomy 12. In SMZBCL group, an abnormal karyotype was found in 58% of patients. The most frequently involved chromosomes were 1, 3, 7, 8 and 14. The most frequent structural abnormalities associated to SMZBCL were +3q and del(7q). No case presented +12, nor t(11;14)(q13;q32), and only one case showed 17p13 deletion. In conclusion, cytogenetic abnormalities seem to be different in each studied group, and its knowledge could be useful to establish a differential diagnosis among these pathologies. PPBL still is a controversial entity, because it is not clear if it represents a neoplastic disease with a very slow progression rate or if it represents a reactive phenomena." @default.
• W34626883 created "2016-06-24" @default.
• W34626883 creator A5023087951 @default.
• W34626883 date "2001-04-23" @default.
• W34626883 modified "2023-09-26" @default.
• W34626883 title "Aplicació de la citogenètica convencional i la hibridació in situ a l'estudi de síndromes limfoproliferatives cròniques B" @default.
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