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  1. Article: Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.

    Miolo, Gianmaria / Marus, Wally / Buonadonna, Angela / Da Ros, Lucia / Della Puppa, Lara / Corona, Giuseppe

    Diagnostics (Basel, Switzerland)

    2024  Volume 14, Issue 9

    Abstract: The immunohistochemical assessment of mismatch repair (MMR) proteins represents a pivotal screening tool for identifying Lynch syndrome (LS)-related cancers, as the loss of their expression often indicates MMR dysfunction associated with genetic or ... ...

    Abstract The immunohistochemical assessment of mismatch repair (MMR) proteins represents a pivotal screening tool for identifying Lynch syndrome (LS)-related cancers, as the loss of their expression often indicates MMR dysfunction associated with genetic or epigenetic alterations. Frequently, LS-related colorectal cancers present germline pathogenic variants in the
    Language English
    Publishing date 2024-04-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics14090888
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  2. Article: Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in

    Miolo, Gianmaria / Colavito, Davide / Della Puppa, Lara / Corona, Giuseppe

    Molecular syndromology

    2023  Volume 15, Issue 2, Page(s) 167–174

    Abstract: Introduction: SETBP1: Case presentation: In this report, we present the case of a 6-year-old male patient exhibiting fine and global motor skill impairments along with expressive language delay. The patient carried a novel germline, heterozygous, de ... ...

    Abstract Introduction: SETBP1
    Case presentation: In this report, we present the case of a 6-year-old male patient exhibiting fine and global motor skill impairments along with expressive language delay. The patient carried a novel germline, heterozygous, de novo nonsense variant in the
    Conclusion: Given the limited number of ADR29 cases reported to date, it is critical to focus attention on the phenotypic features of each new individual and seek out previously undocumented defects. The clinical findings found in our patient align with current knowledge on the correlation between the genotypes characterized by loss-of-function variants in
    Language English
    Publishing date 2023-12-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000535057
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  3. Article: Pharmacometabolomics of trabectedin in metastatic soft tissue sarcoma patients.

    Corona, Giuseppe / Di Gregorio, Emanuela / Buonadonna, Angela / Lombardi, Davide / Scalone, Simona / Steffan, Agostino / Miolo, Gianmaria

    Frontiers in pharmacology

    2023  Volume 14, Page(s) 1212634

    Abstract: Objective: ...

    Abstract Objective:
    Language English
    Publishing date 2023-08-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2587355-6
    ISSN 1663-9812
    ISSN 1663-9812
    DOI 10.3389/fphar.2023.1212634
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  4. Article ; Online: Novel metabolomics-biohumoral biomarkers model for predicting survival of metastatic soft-tissue sarcomas.

    Vignoli, Alessia / Miolo, Gianmaria / Tenori, Leonardo / Buonadonna, Angela / Lombardi, Davide / Steffan, Agostino / Scalone, Simona / Luchinat, Claudio / Corona, Giuseppe

    iScience

    2023  Volume 26, Issue 10, Page(s) 107678

    Abstract: Soft tissue sarcomas (STSs) are rare malignant tumors that are difficult to prognosticate using currently available instruments. Omics sciences could provide more accurate and individualized survival predictions for patients with metastatic STS. In this ... ...

    Abstract Soft tissue sarcomas (STSs) are rare malignant tumors that are difficult to prognosticate using currently available instruments. Omics sciences could provide more accurate and individualized survival predictions for patients with metastatic STS. In this pilot, hypothesis-generating study, we integrated clinicopathological variables with proton nuclear magnetic resonance (
    Language English
    Publishing date 2023-08-19
    Publishing country United States
    Document type Journal Article
    ISSN 2589-0042
    ISSN (online) 2589-0042
    DOI 10.1016/j.isci.2023.107678
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  5. Article: The Riddle of Cetuximab-Related Skin Toxicity:

    Saorin, Asia / Di Gregorio, Emanuela / Buonadonna, Angela / Miolo, Gianmaria / Corona, Giuseppe

    Cancers

    2022  Volume 14, Issue 21

    Abstract: The epidermal growth factor receptor inhibitor (EGFRIs) treatments are commonly associated with the development of adverse skin effects. This study aims to investigate the lipid composition change in sebum during cetuximab-based treatment in an attempt ... ...

    Abstract The epidermal growth factor receptor inhibitor (EGFRIs) treatments are commonly associated with the development of adverse skin effects. This study aims to investigate the lipid composition change in sebum during cetuximab-based treatment in an attempt to identify specific metabolic signatures useful in predicting the occurrence of severe skin toxicity. Sebum from 30 metastatic colorectal cancer (mCRC) patients was collected at three time points during the targeted therapy by the application of Sebutape
    Language English
    Publishing date 2022-10-28
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers14215308
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  6. Article ; Online: Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.

    Garutti, Mattia / Foffano, Lorenzo / Mazzeo, Roberta / Michelotti, Anna / Da Ros, Lucia / Viel, Alessandra / Miolo, Gianmaria / Zambelli, Alberto / Puglisi, Fabio

    Genes

    2023  Volume 14, Issue 5

    Abstract: Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar ... ...

    Abstract Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.
    MeSH term(s) Adult ; Humans ; Genetic Predisposition to Disease ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Genetic Testing
    Language English
    Publishing date 2023-04-30
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14051025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: 1

    Corona, Giuseppe / Di Gregorio, Emanuela / Vignoli, Alessia / Muraro, Elena / Steffan, Agostino / Miolo, Gianmaria

    Cancers

    2021  Volume 13, Issue 22

    Abstract: The lipid tumour demand may shape the host metabolism adapting the circulating lipids composition to its growth and progression needs. This study aims to exploit the ... ...

    Abstract The lipid tumour demand may shape the host metabolism adapting the circulating lipids composition to its growth and progression needs. This study aims to exploit the straightforward
    Language English
    Publishing date 2021-11-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers13225845
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  8. Article: Metabolic Clues to Bile Acid Patterns and Prolonged Survival in Patients with Metastatic Soft-Tissue Sarcoma Treated with Trabectedin.

    Miolo, Gianmaria / Buonadonna, Angela / Scalone, Simona / Lombardi, Davide / Della Puppa, Lara / Steffan, Agostino / Corona, Giuseppe

    Metabolites

    2023  Volume 13, Issue 10

    Abstract: Metastatic soft-tissue sarcomas (mSTS) encompass a highly heterogeneous group of rare tumours characterized by different clinical behaviours and outcomes. Currently, prognostic factors for mSTS are very limited, posing significant challenges in ... ...

    Abstract Metastatic soft-tissue sarcomas (mSTS) encompass a highly heterogeneous group of rare tumours characterized by different clinical behaviours and outcomes. Currently, prognostic factors for mSTS are very limited, posing significant challenges in predicting patient survival. Within a cohort of 39 mSTS patients undergoing trabectedin treatment, it was remarkable to find one patient who underwent 73 cycles of trabectedin achieving an unforeseen clinical outcome. To identify contributing factors to her exceptional long-term survival, we have explored circulation metabolomics and biohumoral biomarkers to uncover a potential distinct host biochemical phenotype. The long-term survival patient compared with the other mSTS patients exhibited a distinctive metabolic profile characterized by remarkably higher levels of ursodeoxycholic acid (UDCA) derivatives and vitamin D and lower levels of lithocholic acid (LCA) derivatives, as well as reduced levels of inflammatory C-Reactive Protein 4 (C-RP4) biomarker. Despite its exploratory nature, this study reveals a potential association between specific bile acid metabolic profiles and mSTS patients' prognosis. Enhanced clinical understanding of the interplay between bile acid metabolism and disease progression could pave the way for new targeted therapeutic interventions which may improve the overall survival of mSTS patients.
    Language English
    Publishing date 2023-09-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662251-8
    ISSN 2218-1989
    ISSN 2218-1989
    DOI 10.3390/metabo13101035
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  9. Article ; Online: From Metabolism to Genetics and Vice Versa: The Rising Role of Oncometabolites in Cancer Development and Therapy.

    Di Gregorio, Emanuela / Miolo, Gianmaria / Saorin, Asia / Steffan, Agostino / Corona, Giuseppe

    International journal of molecular sciences

    2021  Volume 22, Issue 11

    Abstract: Over the last decades, the study of cancer metabolism has returned to the forefront of cancer research and challenged the role of genetics in the understanding of cancer development. One of the major impulses of this new trend came from the discovery of ... ...

    Abstract Over the last decades, the study of cancer metabolism has returned to the forefront of cancer research and challenged the role of genetics in the understanding of cancer development. One of the major impulses of this new trend came from the discovery of oncometabolites, metabolic intermediates whose abnormal cellular accumulation triggers oncogenic signalling and tumorigenesis. These findings have led to reconsideration and support for the long-forgotten hypothesis of Warburg of altered metabolism as oncogenic driver of cancer and started a novel paradigm whereby mitochondrial metabolites play a pivotal role in malignant transformation. In this review, we describe the evolution of the cancer metabolism research from a historical perspective up to the oncometabolites discovery that spawned the new vision of cancer as a metabolic disease. The oncometabolites' mechanisms of cellular transformation and their contribution to the development of new targeted cancer therapies together with their drawbacks are further reviewed and discussed.
    MeSH term(s) Cell Transformation, Neoplastic/metabolism ; Cell Transformation, Neoplastic/pathology ; Humans ; Metabolic Diseases/metabolism ; Metabolic Diseases/pathology ; Mitochondria/metabolism ; Mitochondria/pathology ; Neoplasms/metabolism ; Neoplasms/pathology ; Signal Transduction
    Language English
    Publishing date 2021-05-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22115574
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  10. Article ; Online: Novel method for fast trabectedin quantification using hydrophilic interaction liquid chromatography and tandem mass spectrometry for human pharmacokinetic studies.

    Di Gregorio, Emanuela / Miolo, Gianmaria / Steffan, Agostino / Corona, Giuseppe

    Journal of pharmaceutical and biomedical analysis

    2020  Volume 185, Page(s) 113261

    Abstract: Few time-consuming bioanalytical methods are currently available for trabectedin quantification in clinical investigations. Here we present a novel, fast and sensitive method for trabectedin determination in human plasma based on hydrophilic interaction ... ...

    Abstract Few time-consuming bioanalytical methods are currently available for trabectedin quantification in clinical investigations. Here we present a novel, fast and sensitive method for trabectedin determination in human plasma based on hydrophilic interaction liquid chromatography and tandem mass spectrometry (HILIC-MS/MS). Plasma samples are treated with acetonitrile-0.1 % formic acid and the solvent extract is directly injected into an Acquity BEH Amide column (2.1 × 100 mm, 1.7 μm) operating in HILIC mode at 0.2 mL/min with 80:20 acetonitrile-0.1 % formic acid in water. The analyte is separated by an organic solvent gradient and quantified by an Agilent Ultivo triple quadrupole mass spectrometer operating in multiple reaction monitoring (MRM) mode. The quantitative MRM transitions were m/z 762→234 and m/z 765→234 for trabectedin and its d
    MeSH term(s) Antineoplastic Agents, Alkylating/administration & dosage ; Antineoplastic Agents, Alkylating/blood ; Antineoplastic Agents, Alkylating/pharmacokinetics ; Chromatography, High Pressure Liquid/methods ; Drug Monitoring/methods ; High-Throughput Screening Assays/methods ; Humans ; Hydrophobic and Hydrophilic Interactions ; Limit of Detection ; Reproducibility of Results ; Sarcoma/blood ; Sarcoma/drug therapy ; Tandem Mass Spectrometry/methods ; Time Factors ; Trabectedin/administration & dosage ; Trabectedin/blood ; Trabectedin/chemistry ; Trabectedin/pharmacokinetics
    Chemical Substances Antineoplastic Agents, Alkylating ; Trabectedin (ID0YZQ2TCP)
    Language English
    Publishing date 2020-03-17
    Publishing country England
    Document type Journal Article ; Observational Study ; Validation Study
    ZDB-ID 604917-5
    ISSN 1873-264X ; 0731-7085
    ISSN (online) 1873-264X
    ISSN 0731-7085
    DOI 10.1016/j.jpba.2020.113261
    Database MEDical Literature Analysis and Retrieval System OnLINE

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