Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients

ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

“…On the other hand, the loss of functions of both EP300 and CREBBP has been reported to participate in tumorigenesis by means of epigenetic alterations mediated by reduced histone acetylation activities. [26][27][28][29] Recent reports also described the marked involvement of CREBBP mutations in the relapse of high hyperdiploid BCP-ALL. [27][28] Therefore, both the loss of function in CREBBP or EP300 and the gain of aberrant ZNF384 function could cooperatively affect leukemogenesis in ALL harboring these two fusion genes.…”

High hyperdiploid acute lymphoblastic leukemia (ALL)—A 25‐year population‐based survey of the Austrian ALL‐BFM (Berlin‐Frankfurt‐Münster) Study Group

“…These problems can only be overcome by systematic screening with objective ascertainment methods, such as DNA arrays, which will not only provide a clearer and unbiased picture of the entire chromosomal configuration in the respective HD ALL cases, but also reveal their genome‐wide fine structure copy number as well as copy‐neutral loss of heterozygosity abnormality patterns. In combination with the recent insights into the mutational spectrum of HD ALL cases, these parameters will provide a plethora of new possibilities that will not only refine the prognostic stratification, but perhaps also increase the success of therapy . In this regard, recent reports have highlighted the importance of alterations in the RAS pathway on relapse risk of HD ALL …”

“…In combination with the recent insights into the mutational spectrum of HD ALL cases, these parameters will provide a plethora of new possibilities that will not only refine the prognostic stratification, but perhaps also increase the success of therapy . In this regard, recent reports have highlighted the importance of alterations in the RAS pathway on relapse risk of HD ALL …”

“…In combination with the recent insights into the mutational spectrum of HD ALL cases, these parameters will provide a plethora of new possibilities that will not only refine the prognostic stratification, but perhaps also increase the success of therapy. 15,[30][31][32][33] In this regard, recent reports have highlighted the importance of alterations in the RAS pathway on relapse risk of HD ALL. 15,30,31 Given the increasing number of such novel parameters and especially taking into account the nowadays dominant role of MRD monitoring for prognostic stratification also in this particular subgroup of HD BCP-ALL, it seems unlikely that, even when statistically valid, any such simple information as the presence or absence of specific chromosomes will be valuable enough to be incorporated into prognostic stratification schemes in future ALL-BFM treatment trials.…”

HIF1A(rs11549465) andAKNA(rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren’s Syndrome

“…Particularly, AKNA upregulates the expression of two costimulatory molecules, CD40 and CD40L, in T and B-lymphocytes, as well as natural killer and dendritic cells [13]. To date, AKNA gene polymorphisms as well as its expression had been associated with other human pathologies in which the immune system plays an important role such as cervical cancer [14], leukemia [15], Vogt-Koyanagi-Harada's syndrome [16], and hepatitis C virus infection [17]. …”