Publications by authors named "Simona Sala"

Rearrangement of NUTM1 gene (NUTM1r) is one of the most frequent aberrations occurring in infants (younger than 1 year at diagnosis) with B-cell precursor Acute Lymphoblastic Leukaemia (BCP-ALL). In this study we had the unique opportunity to analyze the umbilical cord blood (UCB) sample from one infant patient with NUTM1r BCP-ALL. Herein we reported for the first time that NUTM1r infant ALL arise prenatally, as both the patient-specific CUX1::NUTM1 fusion gene, as well as two IG/TR leukaemic markers were already present and detectable in the patient's UCB at birth.

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T-lineage acute lymphoblastic leukemia (T-ALL) accounts for about 15% of pediatric and about 25% of adult ALL cases. Minimal/measurable residual disease (MRD) assessed by flow cytometry (FCM) is an important prognostic indicator for risk stratification. In order to assess the MRD a limited number of antibodies directed against the most discriminative antigens must be selected.

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Article Synopsis
  • - Monitoring minimal residual disease (MRD) through flow cytometry (FCM) is essential for predicting outcomes in acute lymphoblastic leukemia (ALL), but requires skilled laboratory personnel and ongoing quality checks.
  • - The international Berlin-Frankfurt-Münster (I-BFM) consortium created a comprehensive training and quality control program to standardize FCM-MRD practices across multiple reference labs.
  • - Key elements of this program include a twinning maturation program, mandatory external quality assessments, regular data trials, and independent survey evaluations, resulting in significantly improved accuracy and consistency in MRD detection in pediatric ALL patients.
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  • Specialized ribonucleoprotein (RNP) granules are crucial for regulating mRNA activity in polarized cells, influencing embryonic development.
  • The study identifies Hecw, a Drosophila ubiquitin ligase, as a significant regulator of RNPs in both oogenesis and neuronal function.
  • Depleting Hecw leads to enlarged granules, defective egg development, premature aging, and neuronal issues due to impaired protein ubiquitination, affecting the activity of translational repressors like Fmrp.
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Background: Regorafenib, a multitargeted tyrosine kinase inhibitor, proved to be active in patients with soft tissue sarcomas (STS).

Methods: We conducted an open-label, non-randomized, single-center phase II study in advanced pretreated STS patients. Patients received regorafenib 160 mg daily on days 1 enrule 21 of a 28-day cycle.

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Regorafenib may be active in different cancer types. This Phase II trial included patients with various refractory cancer types treated with regorafenib. Here, we report the results of the pancreatic adenocarcinoma cohort.

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Cellular plasticity is, by definition, the ability of cells to adapt to a dynamic micro-environment by changing their phenotype. E-cadherin is the key organizer of the epithelial cell barrier, and it is required at the cell surface to preserve epithelial tissue integrity and homeostasis, since it not only organizes the adherens junctions, but also transfers intracellular signals that provide cues to regulate cell survival, morphology and polarity. As such, de-regulation of E-cadherin has deleterious effects on cells and whole tissues.

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Background: Flow cytometric analysis of leukemia-associated immunophenotypes and polymerase chain reaction-based amplification of antigen-receptor genes rearrangements are reliable methods for monitoring minimal residual disease. The aim of this study was to compare the performances of these two methodologies in the detection of minimal residual disease in childhood acute lymphoblastic leukemia.

Design And Methods: Polymerase chain reaction and flow cytometry were simultaneously applied for prospective minimal residual disease measurements at days 15, 33 and 78 of induction therapy on 3565 samples from 1547 children with acute lymphoblastic leukemia enrolled into the AIEOP-BFM ALL 2000 trial.

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Metastatic brain tumors from colorectal cancer are relatively rare. In previous reports the incidence ranged from 1.9 to 3.

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Article Synopsis
  • Neural stem cells can be sourced from both adult and embryonic nervous systems, but distinguishing them is challenging due to undefined markers.
  • Researchers have identified various endothelial and hematopoietic receptors on embryonic human neural stem cells, which are partly retained as these cells differentiate.
  • This finding implies that neural stem cells possess a broader capability than assumed, enabling them to respond to diverse environmental signals and potentially influencing stem cell fate conversion.
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