The use of molecular profiling for diagnosis and research in non-Hodgkin's lymphoma

Molecular profiling facilitates the understanding of the genetic processes underlying the development of cancer, and makes it possible to use specific signatures to prognosticate clinical outcome and to predict response to specific treatments. There has been a great increase in the availability of tools for exploring genetic abnormalities in cancer cells, which have allowed a more comprehensive characterization of the mutations, translocations, and copy-number variations that may affect the development of cancer or therapy response. An improved understanding of the molecular basis of cancer is helping also in the identification of new molecular targets for therapy

Papel del cribado mediante estudio de mutaciones del gen JAK2 en el diagnóstico de las neoplasias mieloproliferativas crónicas

Se trata de un estudio realizado con el objetivo de desarrollar e implementar un algoritmo de despistaje para la identificación de individuos con potencial Policitemia Vera (PV). La actualización de la clasificación de la organización mundial de la salud (OMS) de 2017, revisó a la baja la cifra de hemoglobina y/o hematocrito necesarios para el diagnóstico de PV con el fin de identificar formas paucisintomáticas, pero con potencial significado clínico. Esto motivó que una gran cantidad de individuos (se estima que en torno al 4%) cumplieran este criterio de hemoglobina y/o hematocrito, con la repercusión socio-económica que ello implica. Para solventar este problema, hemos desarrollado un algoritmo que nos permita identificar potenciales individuos con PV. El desarrollo de este algoritmo se ha realizado en tres fases, una primera en la que se estudió la prevalencia de la mutación de JAK2 V617F en individuos que cumplían el criterio OMS de hemoglobina y/o hematocrito. Posteriormente, a partir de ese dato y mediante el análisis de otras variables estudiadas, se desarrolló un algoritmo. Finalmente, este algoritmo se aplicó en una cohorte independiente con el fin de validarlo. A modo de conclusión, es posible la creación de un algoritmo para el despistaje de individuos con potencial PV. Este algoritmo permite una reducción de en torno al 50% de los estudios necesarios al partir desde población general. No obstante, sigue arrojando una cifra muy alta de casos como para permitir su incorporación en práctica clínica habitual

Videojuego adaptativo a diferentes tipos de jugador

Treballs Finals de Grau d'Enginyeria Informàtica, Facultat de Matemàtiques, Universitat de Barcelona, Any: 2021, Director: Anna Puig Puig[en] Video games are a booming medium in which more and more young people spend their leisure time. Quality standards in the video game industry are constantly increasing, but there are still many players who struggle to find a game that is exactly what they need to have a good time. As gamers we do not always need the same from a video game and there are times when video games can be somewhat rigid. The aim of this project is to design and develop a video game procedurally that is dynamically created based on the interests shown by the player to adapt to the player’s tastes in real time. To achieve this objective, it is essential to categorize the players in the six types of player of the HEXAD model and also take into account the monitoring of their interactions within the game. Mechanics associated with each type of player have been taken into account that will serve both to monitor the actions of the player and to allow the creation of a game more adapted to this. The game is structured in floors with different rooms. Based on the analysis of the behavior of the player in the current floor and in the previous ones, we will assign a score to the player in relation to each of the six types of player mentioned previously. This score has been taken into account to procedurally generate the next floor trying to adapt it as much as possible to the player

Mycosis Fungoides and Sézary Syndrome: An Integrative Review of the Pathophysiology, Molecular Drivers, and Targeted Therapy

Primary cutaneous T-cell lymphomas (CTCLs) constitute a heterogeneous group of diseases that affect the skin. Mycosis fungoides (MF) and Sézary syndrome (SS) account for the majority of these lesions and have recently been the focus of extensive translational research. This review describes and discusses the main pathobiological manifestations of MF/SS, the molecular and clinical features currently used for diagnosis and staging, and the different therapies already approved or under development. Furthermore, we highlight and discuss the main findings illuminating key molecular mechanisms that can act as drivers for the development and progression of MF/SS. These seem to make up an orchestrated constellation of genomic and environmental alterations generated around deregulated T-cell receptor (TCR)/phospholipase C, gamma 1, (PLCG1) and Janus kinase/ signal transducer and activator of transcription (JAK/STAT) activities that do indeed provide us with novel opportunities for diagnosis and therapy.This work was funded by grants from Instituto de Salud Carlos III (ISCIII), co-financed by FEDER: PI16/00156 and PI19/00204 to JPV, PI17/0957 to P.L.O.-R., J.P.V. and M.Á.P. also received private funding from the Asociación Luchamos Por La Vida (LPLV) and the Asociación Española Contra El Cancer (AECC), respectively. N.G.-D. was supported by a pre-doctoral contract from UC-IDIVAL

Genomic analyses of microdissected Hodgkin and Reed-Sternberg cells: mutations in epigenetic regulators and p53 are frequent in refractory classic Hodgkin lymphoma

This work was supported by grants from the Plan Nacional de I + D + I cofinanced by the ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER), PI12/1832, the Spanish Association for Cancer Research (AECC), and Programas para Grupos de Investigación de la Comunidad Autónoma de Madrid (Biomedicina 2017)

Analysis of the concentration of emissions from the Spanish fleet of tugboats

At present, the sensitivity of society towards emissions in commercial maritime ports is increasing, which is reflected in the large number of studies on the control of emissions in them, perhaps because the most important commercial ports are located in cities with high population density. The objective of this work was to determine the greenhouse gas emissions caused by the activity of the Spanish tugboat fleet, studying the tugboat fleet of the eleven autonomous coastal Spanish communities from 2004 to 2017 and their impact on the carbon footprint of the country?s shipping sector. To do this, the methodology used by the International Maritime Organization for merchant ships to estimate the emissions of a tugboat fleet is formalized, and Gini concentration index methodology was applied to the concentration of emissions from this fleet. This has made it possible to obtain results on the distribution of the concentration of emissions from Spanish ports by region, age, and size, as well as to establish the profile of the tugboat port that pollutes the most and its carbon footprint. One of the results is that in the period analyzed, the concentration of emissions from the Spanish tugboat fleet increased if we looked at its distribution by region, and decreased if we look at its distribution by age and size. This is because tugboat activity was very different by region; however, their characteristics related to age and size evolved in a more homogeneous way

DUSP22-rearranged anaplastic lymphomas are characterized by specific morphological features and a lack of cytotoxic and JAK/STAT surrogate markers

This work was supported by grants from the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Economy and Competence (MINECO, RTICC ISCIII and CIBERONC) (SAF2013-47416- R, RD06/0020/0107-RD012/0036/0060 and Plan Nacional I+D+I: PI16/01294 and PIE15/0081), AECC and the Madrid Autonomous Community

Overlap at the molecular and immunohistochemical levels between angioimmunoblastic T-cell lymphoma and a subgroup of peripheral T-cell lymphomas without specific morphological features

The overlap of morphology and immunophenotype between angioimmunoblastic T-cell lymphoma (AITL) and other nodal peripheral T-cell lymphomas (n-PTCLs) is a matter of current interest whose clinical relevance and pathogenic background have not been fully established. We studied a series of 98 n-PTCL samples (comprising 57 AITL and 41 PTCL-NOS) with five TFH antibodies (CD10, BCL-6, PD-1, CXCL13, ICOS), looked for mutations in five of the genes most frequently mutated in AITL (TET2, DNMT3A, IDH2, RHOA and PLCG1) using the Next-Generation-Sequencing Ion Torrent platform, and measured the correlations of these characteristics with morphology and clinical features. The percentage of mutations in the RHOA and TET2 genes was similar (23.5% of cases). PLCG1 was mutated in 14.3%, IDH2 in 11.2% and DNMT3A in 7.1% of cases, respectively. In the complete series, mutations in RHOA gene were associated with the presence of mutations in IDH2, TET2 and DNMT3A (p < 0.001, p = 0.043, and p = 0.029, respectively). Fourteen cases featured RHOA mutations without TET2 mutations. A close relationship was found between the presence of these mutations and a TFH-phenotype in AITL and PTCL-NOS patients. Interestingly, BCL-6 expression was the only TFH marker differentially expressed between AITL and PTCL-NOS cases. There were many fewer mutated cases than there were cases with a TFH phenotype. Overall, these data suggest alternative ways by which neoplastic T-cells overexpress these proteins. On the other hand, no clinical or survival differences were found between any of the recognized subgroups of patients with respect to their immunohistochemistry or mutational profile.This work was supported by grants from the Instituto de Salud Carlos III, from the Ministerio de Economía, Industria y Competitividad (RTICC RD06/0020/0107, RD12/0036/0060, PI 12/1682, PT13/0010/0007, PI16/ 01294, SAF2013-47416-R, CIBERONC-ISCIII, PIE15/ 0081, ISCIII-MINECO AES-FEDER (Plan Estatal I+D+I 2013–2016): PI14/00221, PIE14/0064, PIE15/0081 and PIE16/01294)) and the Asociación Española Contra el Cáncer, Spain. JG-R is a recipient of an iPFIS predoctoral fellowship (IFI14/00003) from ISCIII-MINECO-AESFEDER (Plan Estatal I+D+I 2013–2016). MSB was supported by a Miguel Servet contract (CP11/00018) from the ISCIII-MINECO-AES-FEDER (Plan Nacional I+D+I 2008–2011), and currently holds a Miguel Servet II contract (CPII16/00024), supported by ISCIII-MINECOAES- FEDER (Plan Estatal I+D+I 2013–2016) and the Fundación de Investigación Biomédica Puerta de Hierro.S