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Congenital Central Hypoventilation Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Expressed during neural development in the nuclei of brainstem areas that contain pathways controlling breathing and auditory functions [5], PHOX2B is regulated transcriptionally by itself, as well as E2a and Hand2 at specific sympathetic and enteric nervous system developmental stages. Other proteins that may play a possible role in the regulation of PHOX2B are SOX10, PHOX2A, and HASH1. Further, by forming trimer with Pbx1 and Meis1, Hoxb1 and Hoxb2 also contribute to the regulation of PHOX2B transcription.
Introduction to Human Cytochrome P450 Superfamily
Published in Shufeng Zhou, Cytochrome P450 2D6, 2018
The regulation of the CYP17A1 gene is complex. Induction of CYP17A1 has been found to be cAMP mediated and testosterone can suppress the induction of the enzyme. It has been shown that the regulation of homeodomain protein Pbx1 and protein kinase A interaction at −250/−241 is cAMP dependent. The 5′-flanking region of the CYP17A1 gene contains three functional SF1 elements that collectively mediate 25-fold or greater induction of promoter activity by SF1 (Hanley et al. 2001). In constructs containing all three functional SF1 elements, DAX1 inhibited this activation by at least 55%. In the presence of only one or two SF1 elements, DAX1 inhibition was lost although SF1 transactivation persisted.
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].
Analysis of core mutation and TET2/ASXL1 mutations DNA methylation profile in myelodysplastic syndrome
Published in Hematology, 2023
Yue Feng, Haiping Liang, Xingchun Luo, Yu Zhu, Bei Liu, Meining Han
The top 10 hub genes of hypomethylated DMGs included AR, CACNA1C, PBX1, HPGDS, GFI1, CPE, RBFOX3, DLX2, PARP1 and SPIB. PBX1 has been shown to play a role in oncogenesis by regulating multiple biological processes, including proliferation, invasion, metastasis and angiogenesis [43], and it is associated with myeloid leukaemia [44]. GFI1 is a transcription factor with essential roles in controlling the differentiation of myeloid and lymphoid cells [45]. Studies have suggested associations of GFI1 expression levels with the prediction of survival outcomes and response to treatment of patients with AML, MDS and MM [46–48]. PARP1 is a proto-oncogene that encodes a DNA-dependent poly (ADP-ribosyl) transferase associated with DNA repair, transcription, cell proliferation and apoptosis. PARP1 is known to play critical roles in DNA damage detection and repair [49]. PARP1 was reported to be a novel therapeutic target in patients with AML and MDS [50].
PPARG, GNG12, and CD19 are potential independent predictors of central nerve recurrence in childhood acute lymphoblastic leukemia
Published in Hematology, 2023
Shan Zhang, Yansong Tu, Hurong Lai, Huijun Chen, Huaijun Tu, Jian Li
Studies have reported that sex, hepatomegaly, central nervous system status and age [6–8], neuronal-glial antigen-2 (NG2) expression [9], and CNS microenvironment [10] are all associated with CNS relapse of childhood ALL. Another study showed that the up-regulation of the PBx1 gene in B-cell leukemia in mouse CNS microenvironment could enhance the chemotherapy-resistance and self-renewal characteristics of leukemia cells [11]. Organomegaly at diagnosis was a highly significant clinical predictor for relapse [12]. In addition, acute leukemia patients with CNSL, which showed positive CD19 expression in tumor cell immunotyping and remission after anti-CD19 CAR T cell therapy [13]. It could also be a potential predictor. However, as these studies were based only on clinical data or animal experiments, there is still no independent predictor and lack of a corresponding prediction model for CNS relapse in childhood ALL.
Genomic landscape of B-other acute lymphoblastic leukemia in an adult retrospective cohort with a focus on BCR-ABL1-like subtype
Published in Acta Oncologica, 2021
Stepan Hrabovsky, Zuzana Vrzalova, Jiri Stika, Hana Jelinkova, Marie Jarosova, Veronika Navrkalova, Jiri Martenek, Frantisek Folber, Cyril Salek, Jan M. Horacek, Sarka Pospisilova, Jiri Mayer, Michael Doubek
Besides well-established B-cell precursor acute lymphoblastic leukemia (BCP-ALL) subtypes with recurrent genetic aberrations (BCR-ABL1, KMT2A rearrangements, ETV6-RUNX1, TCF3-PBX1, iAMP21), gene expression profile studies have identified several novel B-other ALL subtypes in recent years, including BCR-ABL1-like ALL, ALL with DUX4, ZNF384, or MEF2D rearrangements, ETV6-RUNX1-like ALL or ALL with PAX5 alterations [7–11]. BCR-ABL1-like ALL (or Philadelphia chromosome-like, Ph-like ALL) is one of the novel B-other ALL subtypes defined by unique gene expression profile and associated with a poor prognosis [12–19]. Despite the absence of t(9;22) translocation and BCR-ABL1 fusion, the gene expression profile is similar to BCR-ABL1-positive ALL in this subtype.