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B- and T-Lymphoblastic Leukemia/Lymphoma
Published in Dongyou Liu, Tumors and Cancers, 2017
B-lymphoblastic leukemia/lymphoma encompasses (i) B-lymphoblastic leukemia/lymphoma not otherwise specified (NOS); (ii) B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalities; (iii) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)—BCR-ABL1; (iv) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)—KMT2A rearranged; (v) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)—ETV6-RUNX1; (vi) B-lymphoblastic leukemia/lymphoma with hyperdiploidy; (vii) B-lymphoblastic leukemia/lymphoma with hypodiploidy; (viii) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)—IL3-IGH; (ix) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)—TCF3-PBX1; (x) provisional entity—B-lymphoblastic leukemia/lymphoma BCR-ABL1–like; and (xi) provisional entity—B-lymphoblastic leukemia/lymphoma with iAMP21 [2].
Leukaemias
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2014
Structural abnormalities involving chromosome 11q23, with fusion of the MLL gene, account for approximately 6% of children and adults with ALL but are the most frequent genetic abnormalities observed in infants. The t(4;11) (q21;q23) translocation is associated with MLL-AFFI fusion gene and the t(11;19)(q23;p13) with MLL-ELL fusion gene; both usually carry a dire prognosis. Interestingly, as many as 20% of MLL-rearranged ALL patients also have various mutations involving the receptor tyrosine kinase FLT3 gene. Translocations involving t(1;19)(q23;p13), found in 5% of children and 3% of adults with ALL, result in a TCF3-PBX1 fusion gene and are associated with a realtively good prognosis. An uncommon translocation, t(17;19)(q22;p13) results in the fusion gene TCF3-HLF, which is known to inhibit apoptosis and is associated with a very poor outcome. Approximatel 5% of children have t(X;14)(p22;q32) or t(Y;14)(p11;q32) resulting from translocations between IGH@ and CRLF2, located within the pseudoautosomal region of the sex chromosomes, leading to upregulation of CRLF2. Alternatively, the fusion P2RY8-CRLF2, arising from a deletion within the pseudoautosomal region also upregulates CRLF2. In certain studies of high-risk disease, these rearrangments have been linked to poor-risk disease.68
B-Lymphoblastic Leukemia/Lymphoma
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
The t(1;19)(q23;q13) translocation can present as either a balanced or an unbalanced translocation with der(19)t(1;19). The balanced t(1;19) is associated with fusion of the TCF3 (E2A) gene on chromosome 19 and PBX1 gene on chromosome 1. It is present in 20%–30% of pre-B-ALLs [60] and used to be associated with poor prognosis and CNS relapse [61, 62]. It does not show predilection to any particular age group. On contemporary treatment protocols that include intensive intrathecal therapy, pediatric patients with t(1;19) B-ALL have intermediate to good prognosis [63, 64].
BRD4 PROTAC degrader MZ1 exhibits anti-B-cell acute lymphoblastic leukemia effects via targeting CCND3
Published in Hematology, 2023
Li Ma, Jianwei Wang, Yang Yang, Jun Lu, Jing Ling, Xinran Chu, Zimu Zhang, Yanfang Tao, Xiaolu Li, Yuanyuan Tian, Zhiheng Li, Yongping Zhang, Xu Sang, Lihui Lu, Xiaomei Wan, Kunlong Zhang, Yanling Chen, Juanjuan Yu, Ran Zhuo, Shuiyan Wu, Jian Pan, Xiuxia Zhou, Yixin Hu, Shaoyan Hu
B-ALL is a prevalent hematologic cancer that arises from the abnormal proliferation of precursor B (pre-B) or transformed progenitor B (pro-B) lymphocytes [3], affecting both pediatric and adult populations [20]. This cancer encompasses over 20 subtypes, including TCF3/PBX1 and MLL-AF4, each exhibiting distinct genetic alterations associated with chromatin regulation, kinase signaling, cell-cycle regulation, and lymphoid progressio [23]. The prognosis for B-ALL is typically unfavorable in cases involving mixed lineage leukemia rearrangements (MLLr) and patients under the age of one year [24]. However, advancements in standard chemotherapy, risk stratification, supportive care, and minimal residual disease (MRD) monitoring have led to notable improvements in the overall 5-year survival rate of childhood ALL, exceeding 90% in recent studies [23,25]. In contrast, adult B-ALL is characterized by a cure rate below 50% [26].
A comprehensive analysis of Wnt/β-catenin signaling pathway-related genes and crosstalk pathways in the treatment of As2O3 in renal cancer
Published in Renal Failure, 2018
Yan-Lei Li, Yu-Fen Jin, Xiu-Xia Liu, Hong-Jun Li
TCF7L1 (also known as TCF3) encodes a member of the T-cell factor/lymphoid enhancer factor family of TFs, which are activated by β-catenin and mediate the Wnt signaling pathway [41]. A previous study has demonstrated that the expression of TCF1 that is the homolog of TCF7L1 is significantly higher in clear cell RCC than in normal tissue [42]. Besides, in the transcriptional regulatory network, TCF7L1 regulated other TFs, such as SMAD3 and NFATC3. Taken together, the Wnt signaling pathway may be affected by As2O3 in renal cancer via the reduced expression of TCF7L1.
Rare variant association study of veteran twin whole-genomes links severe depression with a nonsynonymous change in the neuronal gene BHLHE22
Published in The World Journal of Biological Psychiatry, 2022
Daniel Hupalo, Christopher W. Forsberg, Jack Goldberg, William S. Kremen, Michael J. Lyons, Anthony R. Soltis, Coralie Viollet, Robert J. Ursano, Murray B. Stein, Carol E. Franz, Yan V. Sun, Viola Vaccarino, Nicholas L. Smith, Clifton L. Dalgard, Matthew D. Wilkerson, Harvey B. Pollard
BHLHE22 is primarily expressed in the brain, yet its mechanism of influence on MDD is not fully understood. However, multiple lines of evidence relate the BHLHE22 gene to psychiatric disease. These include being a risk factor for schizophrenia (Hennig et al. 2017), PTSD (Gelernter et al. 2019), familial depression (Subaran et al. 2016) and risk-taking-behavior (Karlsson Linner et al. 2019). In particular, the imputed association of rs13279074 with schizophrenia within the Finngen2 database demonstrates the impact that changes in this gene and base pair can have on psychiatric disease. Functionally, BHLHE22 drives neocortical arealization, the process by which individual areas of the neocortex develop their own cytoarchitecture, connectivity and function (Alfano and Studer 2013). BHLHE22 also differs from other members of the class of Basic Helix-Loop-Helix genes in that it cannot bind directly to DNA and must have a binding partner that allows the complex to bind target regions. One such binding partner is the BHLH gene TCF4, and its paralog TCF3. The BHLHE22/TCF4 complex has been shown to drive oligodendrocyte differentiation and CNS myelinisation (Wedel et al. 2020). TCF4 has also recently been shown to be a schizophrenia risk gene on its own (Hennig et al. 2017). Thus the enhanced risk for schizophrenia associated with BHLHE22 could be related to the influence or interaction with TCF4, and its downstream targets. BHLHE22 also forms a transcriptional repressor complex with PRDM8, a member of a conserved family of methyltransferases that affects neuronal circuit assembly but whose influence on disease is unknown (Ross et al. 2012). This evidence suggests the mechanism of BHLHE22 in causing psychiatric disease is through transcriptional regulation via partner genes which alters neuronal architecture. The downstream effects of these transcriptional regulators are many, and provide a plausible mechanism by which BHLHE22 may contribute to a causal genetic determinate for severe MDD.