Frontiers in Oncology (Mar 2024)

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

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

DOI
https://doi.org/10.3389/fonc.2024.1320541
Journal volume & issue
Vol. 14

Abstract

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IntroductionMalignant 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 literatureHere 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.ConclusionWe 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.

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