An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis : report of a new paediatric case and a review of the literature
Copyright © 2024 Pellegrino, Tirtei, Divincenzo, Campello, Rubino, Augustoni, Linari, Asaftei and Fagioli..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:14 |
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| Enthalten in: |
Frontiers in oncology - 14(2024) vom: 29., Seite 1320541 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Pellegrino, Francesco [VerfasserIn] |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Revised 19.03.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.3389/fonc.2024.1320541 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369864417 |
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| 245 | 1 | 3 | |a An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis |b report of a new paediatric case and a review of the literature |
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| 500 | |a Date Revised 19.03.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2024 Pellegrino, Tirtei, Divincenzo, Campello, Rubino, Augustoni, Linari, Asaftei and Fagioli. | ||
| 520 | |a Introduction: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a malignant ectomesenchymoma | |
| 650 | 4 | |a morpho-molecular analysis | |
| 650 | 4 | |a next generation sequencing | |
| 650 | 4 | |a pediatric oncology | |
| 650 | 4 | |a soft tissue tumor | |
| 700 | 1 | |a Tirtei, Elisa |e verfasserin |4 aut | |
| 700 | 1 | |a Divincenzo, Federico |e verfasserin |4 aut | |
| 700 | 1 | |a Campello, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Rubino, Carlotta |e verfasserin |4 aut | |
| 700 | 1 | |a Augustoni, Elisabetta |e verfasserin |4 aut | |
| 700 | 1 | |a Linari, Alessandra |e verfasserin |4 aut | |
| 700 | 1 | |a Asaftei, Sebastian Dorin |e verfasserin |4 aut | |
| 700 | 1 | |a Fagioli, Franca |e verfasserin |4 aut | |
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