Caracterización genética de la micosis fungoide tumoral

Los linfomas cutáneos primarios de células T (LCPCT) son un grupo heterogéneo de linfomas no-Hodgkin que se caracterizan por la presencia de linfocitos atípicos en la piel. En el presente trabajo se ha analizado el perfil genético de la micosis fungoide tumoral (MFt) para conocer las alteraciones más frecuentes y su posible función como marcadores pronósticos. Por otra parte, se ha realizado un estudio paralelo para conocer el estatus de los genes del receptor de células T (TCR).5. Se ha observado que las MFt que presentaban infiltración en sangre periférica, presentaban alteraciones similares a las halladas en el SS en estudios previos lo que sugiere la existencia de una firma genética común para los SS de novo y los SS con una MF previa. Con respecto a los LCACG-CD30+, se confirma que ambas entidades son diferentes, no sólo en sus características clínicas sino también en sus perfiles genéticos. 5 changes). It has also been observed that genetically unstable group was related to the presence of the gain of 7q. Regarding prognostic markers, deletion of 9p21.3, 10q26qter and 8q24.21 gain and to belong to the genetically unstable group was associated with a poor overall survival. On the other hand, TCR genes analyses showed that TCRAD, TCRB and TCRG translocations are not a frequent event in CTCL. However, we have observed extra signal FISH copies of TCRB (7q34) and TCRG (7p14) probes in 3/6 MFt and 3/13 SS, confirming our results previously observed by conventional cytogenetics and oligoarrayCGH techniques. This study concludes: 1. Our results confirm a MFt genomic profile characterized by gains of 7q, 17q, 8q, 9q, 10p y 1q, and losses of 9p, 9q, 17p, 13q, 6q, 10p y 16q regions. 2. TCR loci structural alterations are not a genetic characteristic of CTCLs. 3. We have defined the genomic instability of MFT and we observed the presence of two distinct groups: one called genetically stable and a second group called genetically unstable, characterized by the presence of numerous genetic changes. It has also observed a significant association of chromosome 7q gain with the genetically unstable group, suggesting an important pathogenic role of this region in this subset of MFT. 4. We have observed that losses of 9p21.3 and 10q26qter regions and the gain of the 8q24.21 region as well as belonging to the genetically unstable group have been associated with a poor prognosis. With regard to clinical characteristics, age over 60 years at diagnosis and presenting skin lesions in more than two locations have also been associated with poorer survival. 5. The comparison between MFt and SS genomic profiles has shown that MFt patients with peripheral blood involvement showed similar changes to those found in the SS in previous studies. These findings suggest the existence of a common genetic signature for de novo SS and SS with a previous MF. Regarding cALCL-CD30+, we confirmed that both entities are different not only in its clinical features but also on their genetic profiles