Komplex molekuláris genetikai vizsgálati algoritmus myeloproliferativ neoplasiák diagnosztikájában

Introduction: Mutations in Janus kinase 2, calreticulin and thrombopoietin receptor genes have been identified in the genetic background of Philadelphia chromosome negative, "classic" myeloproliferative neoplasms. Aim: The aim of the authors was to identify driver mutations in a large myeloproliferative cohort of 949 patients. Method: A complex array of molecular techniques (qualitative and quantitative allele-specific polymerase chain reactions, fragment analyzes, high resolution melting and Sanger sequencing) was applied. Results: All 354 patients with polycythemia vera carried Janus kinase 2 mutations (V617F 98.6%, exon 12: 1.4%). In essential thrombocythemia (n = 468), the frequency of V617F was 61.3% (n = 287), that of calreticulin 25.2% (n = 118), and that of thrombopoietin receptor mutations 2.1% (n = 10), while 11.3% (n = 53) were triple-negative. Similar distribution was observed in primary myelofibrosis (n = 127): 58.3% (n = 74) V617F, 23.6% (n = 30) calreticulin, 6.3% (n = 8) thrombopoietin receptor mutation positive and 11.8% (n = 15) triple-negative. Conclusions: The recent discovery of calreticulin gene mutations led to definite molecular diagnostics in around 90% of clonal myeloproliferative cases. Orv. Hetil., 2014, 155(52), 2074-2081

The ALICE detector data link

The ALICE detector data link has been designed to cover all the needs for data transfer between the detector and the data-acquisition system. It is a 1 Gbit/s, full-duplex, multi-purpose fibre optic link that can be used as a medium for the bi-directional transmission of data blocks between the front-end electronics and the data- acquisition system and also for the remote control and test of the front-end electronics, In this paper the concept, the protocol, the specific test tools, the prototypes of the detector data link and the read-out receiver card, their application in the ALICE-TPC test system and the integration with the DATE software are presented. The test results on the performance are also shown. (14 refs)

The ALICE DAQ: Current Status and Future Challenges

Proposal of abstract for CHEP2000The ALICE DAQ system has been designed to support an aggregate eventr building bandwidth of up to 2.5 GByte/s and a storage capability o fup to 1.25 GByte/s to mass storage.A general framework called the ALICE Data Acquisition Test Environment (DATE) system has been developed as a basis for prototyping the components of the DAQ. DATE supports a wide spectrum of configurations from simple systems to more complex systems with multiple detectors and multiple event builders.Prototypes of several key components of the ALICE DAQ have been developed and integrated with the DATE system, such as the ALICE Detector Data Link, the online data monitoring from ROOT and the interface to the Mass Storage systems. Combined tests of several of these components are pursued during the ALICE Data Challenges.The architecture of the ALICE DAQ system will be presented together with the current status of the different prototypes. The recent addition of a Transition Radiation Detector (TRD) to ALICE has required a revision of the requirements and the architecture of the DAQ. This will allow a higher level of data selection. These new opportunities and implementation challenges will also be presented

Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study

Standardized monitoring of BCR::ABL1 mRNA levels is essential for the management of chronic myeloid leukemia (CML) patients. From 2016 to 2021 the European Treatment and Outcome Study for CML (EUTOS) explored the use of secondary, lyophilized cell-based BCR::ABL1 reference panels traceable to the World Health Organization primary reference material to standardize and validate local laboratory tests. Panels were used to assign and validate conversion factors (CFs) to the International Scale and assess the ability of laboratories to assess deep molecular response (DMR). The study also explored aspects of internal quality control. The percentage of EUTOS reference laboratories (n = 50) with CFs validated as optimal or satisfactory increased from 67.5% to 97.6% and 36.4% to 91.7% for ABL1 and GUSB, respectively, during the study period and 98% of laboratories were able to detect MR4.5 in most samples. Laboratories with unvalidated CFs had a higher coefficient of variation for BCR::ABL1(IS) and some laboratories had a limit of blank greater than zero which could affect the accurate reporting of DMR. Our study indicates that secondary reference panels can be used effectively to obtain and validate CFs in a manner equivalent to sample exchange and can also be used to monitor additional aspects of quality assurance.</p

ALICE Data Acquisition System Program of R&D Work

The purpose of this paper is to initiate several activities for the data-acquisition and reduction system of the Heavy Ion Experiment ALICE at the LHC. The purpose of the RD32 DRDC project is to develop a Time Projection Chamber (TPC) with a high double track resolution for ALICE. This detector will produce between 80 and 90% of the data volume of the whole ALICE experiment. The total data volume is expected to be in the order of 1 GBytes/sec. and, more severe, no on-line analysis or filtering could be envisaged yet. This will require a tremendous bandwidth from the front-end readout up to the storage device. Research and development has already started in RD32 on the applicability of SCI to the ALICE TPC data-acquisition and reduction system. We propose to extend this work and to view it in the global perspective of the future ALICE DAQ architecture. Another area of particular importance for the ALICE TPC is the data reduction. Work is going on in NA49 on new algorithms for data reduction. We will take this work into account and investigate the architectures that supports these new techniques. The development of the ALICE DAQ architecture in close cooperation with the groups working on the development of the TPC and of the data reduction algorithms is crucial to design a coherent system which fulfills the requirements