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  1. Article: An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis: report of a new paediatric case and a review of the literature.

    Pellegrino, Francesco / Tirtei, Elisa / Divincenzo, Federico / Campello, Anna / Rubino, Carlotta / Augustoni, Elisabetta / Linari, Alessandra / Asaftei, Sebastian Dorin / Fagioli, Franca

    Frontiers in oncology

    2024  Volume 14, Page(s) 1320541

    Abstract: Introduction: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements.: Case presentation and review of the literature: Here we describe the case of a 6- ... ...

    Abstract Introduction: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements.
    Case presentation and review of the literature: Here we describe the case of a 6-months-old male, previously treated in another hospital for abdominal rhabdomyosarcoma (RMS). Histological re-examination demonstrated that the tumour had mesenchymal and neuroectodermal elements components, with a new diagnosis of abdominal-pelvic MEM. A Next-Generation Sequencing (NGS) analysis was performed on a surgical tumour specimen and revealed the presence of a somatic mutation, already reported in MEM cases. We carried out a review of the literature and we found 33 new cases of MEM since the last review. We reported the clinic-pathologic features of new cases of MEM, highlighting the role of molecular studies in supporting the diagnosis of this ambiguous tumours.
    Conclusion: We promote the importance of a diagnosis based on an integrative morpho-molecular approach, that routinely include molecular analysis and the use of bioinformatic mutation detection tools, to support diagnostic and therapeutical queries and to highlight tumour biology and behaviour.
    Language English
    Publishing date 2024-03-01
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2024.1320541
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Unresectable Clival Giant Cell Tumor, Tumor Control With Denosumab After Relapse: A Case Report and Systematic Review of the Literature.

    Pionelli, Maria Grazia / Asaftei, Sebastian D / Tirtei, Elisa / Campello, Anna / Di Rosa, Gianpaolo / Fagioli, Franca

    Journal of pediatric hematology/oncology

    2022  Volume 44, Issue 5, Page(s) 201–209

    Abstract: Giant cell tumors (GCTs) of the skull base are rare entities. Although considered histologically benign, GCTs are locally aggressive with a high rate of local recurrence. The present case describes a 14-year-old girl with a clival GCT who underwent long- ... ...

    Abstract Giant cell tumors (GCTs) of the skull base are rare entities. Although considered histologically benign, GCTs are locally aggressive with a high rate of local recurrence. The present case describes a 14-year-old girl with a clival GCT who underwent long-term therapy with denosumab after local relapse. To our knowledge, it is the second case described with a follow-up term >2 years from the start of denosumab and who did not receive any other adjuvant treatment besides denosumab. The patient achieved a local control of the disease. According to the few available data, radical excision with adjuvant therapy helps in long-term control in uncommon sites, such as the skull. However, the definitive treatment is still controversial because of their rarity and few follow-up data. The present case highlights the benefit of denosumab and its safety as long-term therapy and contributes to the existing literature with analysis and evaluation of the management strategies and prognosis.
    MeSH term(s) Adolescent ; Bone Neoplasms/drug therapy ; Bone Neoplasms/pathology ; Cranial Fossa, Posterior/pathology ; Denosumab/therapeutic use ; Female ; Giant Cell Tumor of Bone/drug therapy ; Giant Cell Tumor of Bone/pathology ; Humans ; Neoplasm Recurrence, Local/drug therapy ; Skull Base Neoplasms/drug therapy
    Chemical Substances Denosumab (4EQZ6YO2HI)
    Language English
    Publishing date 2022-05-09
    Publishing country United States
    Document type Case Reports ; Journal Article ; Systematic Review
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002477
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1537: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Precision Medicine in Osteosarcoma: MATCH Trial and Beyond.

    Tirtei, Elisa / Campello, Anna / Asaftei, Sebastian D / Mareschi, Katia / Cereda, Matteo / Fagioli, Franca

    Cells

    2021  Volume 10, Issue 2

    Abstract: Osteosarcoma (OS) is a rare bone malignant tumour with a poor prognosis in the case of recurrence. So far, there is no agreement on the best systemic therapy for relapsed OS. The availability of next generation sequencing techniques has recently ... ...

    Abstract Osteosarcoma (OS) is a rare bone malignant tumour with a poor prognosis in the case of recurrence. So far, there is no agreement on the best systemic therapy for relapsed OS. The availability of next generation sequencing techniques has recently revolutionized clinical research. The sequencing of the tumour and its matched normal counterpart has the potential to reveal a wide landscape of genetic alterations with significant implications for clinical practice. The knowledge that the genomic profile of a patient's tumour can be precisely mapped and matched to a targeted therapy in real time has improved the development of precision medicine trials (PMTs). PMTs aiming at determining the effectiveness of targeted therapies could be advantageous for patients with a tumour refractory to standard therapies. Development of PMTs for relapsed OS is largely encouraging and is in its initial phase. Assessing OS features, such as its rarity, its age distribution, the technical issues related to the bone tissue origin, and its complex genomic landscape, represents a real challenge for PMTs development. In this light, a multidisciplinary approach is required to fully exploit the potential of precision medicine for OS patients.
    MeSH term(s) Humans ; Osteosarcoma/genetics ; Precision Medicine/methods
    Language English
    Publishing date 2021-01-31
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells10020281
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Management of Unresectable Metastatic Primitive Myxoid Mesenchymal Tumor of Infancy: A Case Report and Systematic Review of the Literature.

    Asaftei, Sebastian D / Campello, Anna / Tirtei, Elisa / Colombo, Sara / Vallero, Stefano / Boffano, Michele / Fagioli, Franca

    Journal of pediatric hematology/oncology

    2020  Volume 42, Issue 3, Page(s) 163–169

    Abstract: Primitive myxoid mesenchymal tumor of infancy is a rare soft tissue tumor. The present case is one of the most invasive primitive myxoid mesenchymal tumor of infancy reported to date. To our knowledge, it is the first case described with extensive ... ...

    Abstract Primitive myxoid mesenchymal tumor of infancy is a rare soft tissue tumor. The present case is one of the most invasive primitive myxoid mesenchymal tumor of infancy reported to date. To our knowledge, it is the first case described with extensive involvement of pelvis and the third described developing metastasis and with an invasion of the spinal canal without evidence of transformation into undifferentiated sarcoma. The patient failed to respond to chemotherapy (CHT). According to the few available data, CHT seems to be more effective in the presence of metastatic disease or increased cellularity. However, CHT, including high-dose ifosfamide, resulted ineffective even after lung metastasis development with pathologic evidence of increased mitotic rate. The management of this case and the data in the literature confirm surgery as the gold standard treatment in this pathology.
    MeSH term(s) Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Fatal Outcome ; Humans ; Infant ; Male ; Soft Tissue Neoplasms/drug therapy ; Soft Tissue Neoplasms/pathology ; Soft Tissue Neoplasms/surgery
    Language English
    Publishing date 2020-03-02
    Publishing country United States
    Document type Case Reports ; Journal Article ; Systematic Review
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000001764
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1537: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article: Front-Line Window Therapy with Temozolomide and Irinotecan in Patients with Primary Disseminated Multifocal Ewing Sarcoma: Results of the ISG/AIEOP EW-2 Study.

    Asaftei, Sebastian Dorin / Puma, Nadia / Paioli, Anna / Petraz, Marco / Morosi, Carlo / Podda, Marta / Tamburini, Angela / Palmerini, Emanuela / Coccoli, Luca / Grignani, Giovanni / Manzitti, Carla / Bertulli, Rossella / De Leonardis, Francesco / Rabusin, Marco / Campello, Anna / Tirtei, Elisa / Picci, Piero / Prete, Arcangelo / Longhi, Alessandra /
    Fagioli, Franca / Luksch, Roberto

    Cancers

    2021  Volume 13, Issue 12

    Abstract: Purpose: The main objective was to evaluate the activity and tolerability of TEMIRI as a front-line treatment in primary disseminated Ewing sarcoma (PDMES) using the RECIST 1.1 criteria. The secondary objectives included the assessment of toxicity and ... ...

    Abstract Purpose: The main objective was to evaluate the activity and tolerability of TEMIRI as a front-line treatment in primary disseminated Ewing sarcoma (PDMES) using the RECIST 1.1 criteria. The secondary objectives included the assessment of toxicity and the performance status/symptom changes.
    Methods: Between 2012 and 2018, patients with PDMES received two courses of temozolomide 100 mg/sqm/day + irinotecan 50 mg/sqm/day for 5 days every 3 weeks as an amendment to the Italian Sarcoma Group/Associazione Italiana EmatoIogia ed Oncologia Pediatrica (ISG/AIEOP) EW-2 protocol (EUDRACT#2009-012353-37, Vers. 1.02).
    Results: Thirty-four patients were enrolled. The median age at diagnosis was 19 years (range 3-55). After TEMIRI, the RECIST response was as follows: a partial response in 20 (59%) patients, stable disease in 11 (32%), and disease progression in 3 (9%). The ECOG/Lansky score was improved in 25/34 (73.5%) cases, and a reduction or disappearance of pain was observed in 31/34 patients (91%). The incidence of grade 3-4 toxicity was 3%. The 3-year event-free survival (EFS) and overall survival (OS) were 21% (95% CI 6-35%) and 36% (95% CI: 18-54%), respectively.
    Conclusion: the smooth handling and encouraging activity demonstrated by up-front TEMIRI did not change the EFS in PDMES, so this result suggests the need for the further evaluation of the efficacy of TEMIRI in combination with conventional treatments in non-metastatic patients.
    Language English
    Publishing date 2021-06-18
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers13123046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Predictors of Endovascular Treatment Among Stroke Codes Activated Within 6 Hours From Symptom Onset.

    Requena, Manuel / Pérez de la Ossa, Natalia / Abilleira, Sonia / Cardona, Pere / Urra, Xabier / Martí-Fabregas, Joan / Rodríguez-Campello, Anna / Boned, Sandra / Rubiera, Marta / Tomasello, Alejandro / Molina, Carlos A / Ribo, Marc

    Stroke

    2018  Volume 49, Issue 9, Page(s) 2116–2121

    Abstract: Background and Purpose- Prehospital stroke code activations help reducing workflow times during in-hospital triage. We aim to identify predictors of endovascular treatment (EVT) among stroke codes (SC) activated within 6 hours from symptom onset. Methods- ...

    Abstract Background and Purpose- Prehospital stroke code activations help reducing workflow times during in-hospital triage. We aim to identify predictors of endovascular treatment (EVT) among stroke codes (SC) activated within 6 hours from symptom onset. Methods- CICAT (Codi Ictus Catalunya) is a prospective official mandatory registry of all SC in Catalunya. We studied all CICAT entries from 6 comprehensive stroke centers for 18 months. We recorded demographic, clinical, and imaging variables on admission. We explored the relationship between these variables and EVT Results- From 3944 SC, 2778 (70.4%) were admitted within 6 hours from symptom onset. Mean age was 72±15.3 years, median Rapid Arterial Occlusion Evaluation scale score 4 (interquartile range [IQR], 2-6), median onset-to-door time 89 minutes (IQR, 54-158), median National Institutes of Health Stroke Scale score 9 (IQR, 4-18), median Alberta Stroke Program Early CT Score 10 (IQR, 8-10). Final diagnosis was ischemic stroke in 1762 patients (63.4%), hemorrhagic stroke in 359 (13.0%), transient ischemic attack in 164 (5.9%), and stroke-mimic in 493 (17.7%). A large vessel occlusion was confirmed in 720 (25.6%) patients. Of all SC, 16% (n=444) received EVT, with a median door-to-groin time of 77 minutes (IQR, 55-102). Baseline variables associated with EVT were premorbid modified Rankin Scale score <2 ( P<0.001), prehospital Rapid Arterial Occlusion Evaluation scale score >4 ( P=0.003), and National Institutes of Health Stroke Scale on admission >8 ( P<0.001). National Institutes of Health Stroke Scale on admission was the only independent predictor of EVT. Although the rate of Alberta Stroke Program Early CT Score 10 progressively decreased over time (0-3 hours, 73.2% versus 3-6 hours, 57.1%; P<0.01), the rate of Alberta Stroke Program Early CT Score 6 remained >90% along time (0-3 hours, 95.1% versus 3-6 hours, 94.0%; P=0.25) and did not decrease over time. The chances to receive EVT and the presence of large vessel occlusion decreased over time. However, the rate of EVT was not different between patients admitted 0 to 3 hours (26.1%) and those admitted 3 to 6 hours (22.9%; P=0.2). Conclusions- Among SC within 6 hours from symptom onset, National Institutes of Health Stroke Scale on admission was the only factor independently associated with EVT. Only 5% of these patients show an Alberta Stroke Program Early CT Score <6 and this rate does not significantly increase over time. These data may be useful to generate direct transfer to angio-suite protocols based mainly on clinical severity.
    MeSH term(s) Aged ; Aged, 80 and over ; Emergency Medical Services/statistics & numerical data ; Endovascular Procedures/statistics & numerical data ; Female ; Humans ; Male ; Middle Aged ; Registries ; Severity of Illness Index ; Spain ; Stroke/physiopathology ; Stroke/surgery ; Time Factors ; Time-to-Treatment/statistics & numerical data ; Triage ; Workflow
    Language English
    Publishing date 2018-10-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80381-9
    ISSN 1524-4628 ; 0039-2499 ; 0749-7954
    ISSN (online) 1524-4628
    ISSN 0039-2499 ; 0749-7954
    DOI 10.1161/STROKEAHA.118.021316
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 448: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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