A Novel Constitutional t(3;8)(p26;q21) and and Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications.

Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the and variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution.

Case Presentation: A 4-year-old girl showed repeated infections and severe neutropenia.

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Several studies have demonstrated the cost-effectiveness of genetic testing for surveillance and treatment of carriers of germline pathogenic variants associated with hereditary breast/ovarian cancer syndrome (HBOC). In Brazil, seventy percent of the population is assisted by the public Unified Health System (SUS), where genetic testing is still unavailable. And few studies were performed regarding the prevalence of HBOC pathogenic variants in this context.

Can torque teno virus be a predictor of SARS-CoV-2 disease progression in cancer patients?

Introduction: Cancer patients with SARS-CoV-2 infection can experience a broad range of clinical manifestations and outcomes. Previous studies have demonstrated an association between torque teno virus (TTV) load and deficiencies of the immune system. The impact of SARS-CoV-2 and TTV viral loads in cancer patients is unknown.

KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia.

About 25% of the patients with the translocation t(11;19)(q23;p13.3)/KMT2A-MLLT1 present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional KMT2A fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19).

Twist1 Influences the Expression of Leading Members of the IL-17 Signaling Pathway in HER2-Positive Breast Cancer Cells.

Breast cancer (BC) is a heterogeneous disease composed of multiple subtypes with different molecular characteristics and clinical outcomes. The metastatic process in BC depends on the transcription factors (TFs) related to epithelial-mesenchymal transition (EMT), including the master regulator Twist1. However, its role beyond EMT in BC subtypes remains unclear.

NRIP1 is activated by C-JUN/C-FOS and activates the expression of PGR, ESR1 and CCND1 in luminal A breast cancer.

Using chip array assays, we identified differentially expressed genes via a comparison between luminal A breast cancer subtype and normal mammary ductal cells from healthy donors. In silico analysis confirmed by western blot and immunohistochemistry revealed that C-JUN and C-FOS transcription factors are activated in luminal A patients as potential upstream regulators of these differentially expressed genes. Using a chip-on-chip assay, we identified potential C-JUN and C-FOS targets.

Topological flat band, Dirac fermions and quantum spin Hall phase in 2D Archimedean lattices.

Materials with properties designed on-demand arise in a synergy between theoretical and experimental approaches. Here, we explore a set of Archimedean lattices, providing a guide to their electronic properties and topological phases. Within these lattices, a rich electronic structure emerges forming type-I and II Dirac fermions, topological flat bands and high-degeneracy points with linear and flat dispersions.

Quantum anomalous Hall effect in metal-bis(dithiolene), magnetic properties, doping and interfacing graphene.

The realization of the Quantum anomalous Hall effect (QAHE) in two dimensional (2D) metal organic frameworks (MOFs), (MC4S4)3 with M = Mn, Fe, Co, Ru and Rh, has been investigated based on a combination of first-principles calculations and tight binding models. Our analysis of the magnetic anisotropy energy (MAE) reveals that the out-of-plane (in-plane) magnetization is favored for M = Mn, Fe, and Ru (Co, and Rh). Therefore, we predict that the structural symmetry of (MC4S4)3 yields the QAHE only for M = Mn, Fe and Ru.

NF-kappaB Regulates Redox Status in Breast Cancer Subtypes.

Oxidative stress (OS) is an indispensable condition to ensure genomic instability in cancer cells. In breast cancer (BC), redox alterations have been widely characterized, but since this process results from a chain of inflammatory events, the causal molecular triggers remain to be identified. In this context, we used a microarray approach to investigate the role of the main pro-oxidant transcription factor, nuclear factor-kappa B (NF-κB), in gene profiles of BC subtypes.

Suppressed topological phase transitions due to nonsymmorphism in SnTe stacking.

We combine first principles calculations with a group theory analysis to investigate topological phase transitions in the stacking of SnTe monolayers. We show that distinct finite stacking yields different symmetry-imposed degeneracy, which dictates the hybridization properties of opposite surface states. For SnTe aligned along the [001] direction, an (even) odd number of monolayers yields a (non)symmorphic space group.

Molecular approaches identify a cryptic MECOM rearrangement in a child with a rapidly progressive myeloid neoplasm.

Myeloid neoplasms are a heterogeneous group of hematologic disorders with divergent patterns of cell differentiation and proliferation, as well as divergent clinical courses. Rare recurrent genetic abnormalities related to this group of cancers are associated with poor outcomes. One such abnormality is the MECOM gene rearrangement that typically occurs in cases with chromosome 7 abnormalities.

NF-kappaB: Two Sides of the Same Coin.

Nuclear Factor-kappa B (NF-κB) is a transcription factor family that regulates a large number of genes that are involved in important physiological processes, including survival, inflammation, and immune responses. More recently, constitutive expression of NF-κB has been associated with several types of cancer. In addition, microorganisms, such as viruses and bacteria, cooperate in the activation of NF-κB in tumors, confirming the multifactorial role of this transcription factor as a cancer driver.

Conductance and Kondo Interference beyond Proportional Coupling.

The transport properties of nanostructured systems are deeply affected by the geometry of the effective connections to metallic leads. In this work we derive a conductance expression for a class of interacting systems whose connectivity geometries do not meet the Meir-Wingreen proportional coupling condition. As an interesting application, we consider a quantum dot connected coherently to tunable electronic cavity modes.

Is there a role for epithelial-mesenchymal transition in adrenocortical tumors?

Purpose: Epithelial-mesenchymal transition (EMT) is a biological dynamic process by which epithelial cells lose their epithelial phenotype and acquire mesenchymal invasive and migratory characteristics. This has been postulated as an essential step during cancer progression and metastasis. Although this is well described in other tumors, the role of EMT in adrenocortical tumors (ACT) has yet to be addressed.

RpoS role in virulence and fitness in enteropathogenic Escherichia coli.

Enteropathogenic Escherichia coli (EPEC) is a diarrheagenic pathogen that afflicts infants in developing countries. The most important virulence trait of EPEC is its ability to intimately adhere to cells in the small intestine, and to elicit diarrhea. The alternative sigma factor RpoS is involved in the virulence of several bacterial species.

GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies.

Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age.

A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma.

Adrenocortical carcinomas (ACC) are very rare tumors related to TP53 mutations mostly in childhood onset cases. Epithelial-mesenchymal transition (EMT) transcription factors TWIST1 and Smad interacting protein 1 (SIP1) are related to poorer outcomes in other malignancies, but their role in ACC is unknown. We describe a case of an advanced metastatic ACC (Weiss-score of 9) in a patient at age 76.

NF-kappaB Is Involved in the Regulation of EMT Genes in Breast Cancer Cells.

The metastatic process in breast cancer is related to the expression of the epithelial-to-mesenchymal transition transcription factors (EMT-TFs) SNAIL, SLUG, SIP1 and TWIST1. EMT-TFs and nuclear factor-κB (NF-κB) activation have been associated with aggressiveness and metastatic potential in carcinomas. Here, we sought to examine the role of NF-κB in the aggressive properties and regulation of EMT-TFs in human breast cancer cells.

ABCB1 regulation through LRPPRC is influenced by the methylation status of the GC -100 box in its promoter.

One of the potential mechanisms of imatinib mesylate (IM) resistance in chronic myeloid leukemia (CML) is increased level of P-glycoprotein (Pgp). Pgp is an efflux pump capable of activating the multidrug resistance (MDR) phenotype. The gene encoding Pgp (ABCB1) has several binding sites in its promoter region, along with CpG islands and GC boxes, involved in its epigenetic control.

relA enhances the adherence of enteropathogenic Escherichia coli.

Enteropathogenic Escherichia coli (EPEC) is a known causative agent of diarrhea in children. In the process of colonization of the small intestine, EPEC synthesizes two types of adhesins, the bundle-forming pilus (BFP) and intimin. The BFP pilus is an adhesin associated with the initial stages of adherence of EPEC to epithelial cells, while the outer membrane protein intimin carries out the intimate adherence that takes place at the third stage of infection.

Forkhead box M1 (FoxM1) gene is a new STAT3 transcriptional factor target and is essential for proliferation, survival and DNA repair of K562 cell line.

The forkhead box (Fox) M1 gene belongs to a superfamily of evolutionarily conserved transcriptional regulators that are involved in a wide range of biological processes, and its deregulation has been implicated in cancer survival, proliferation and chemotherapy resistance. However, the role of FoxM1, the signaling involved in its activation and its role in leukemia are poorly known. Here, we demonstrate by gene promoter analysis, Electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP) assays that FoxM1 is a new target of the STAT3 transcriptional activator.

Many-body effects on the rho(xx) ringlike structures in two-subband wells.

The longitudinal resistivity rho(xx) of two-dimensional electron gases formed in wells with two subbands displays ringlike structures when plotted in a density-magnetic-field diagram, due to the crossings of spin-split Landau levels (LLs) from distinct subbands. Using spin density functional theory and linear response, we investigate the shape and spin polarization of these structures as a function of temperature and magnetic-field tilt angle. We find that (i) some of the rings "break" at sufficiently low temperatures due to a quantum Hall ferromagnetic phase transition, thus exhibiting a high degree of spin polarization (approximately 50%) within, consistent with the NMR data of Zhang et al.