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<p>Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a rare recently described myofibroblastic tumor with intermediate aggressiveness, characterized by a high recurrence, rare metastasis and poor response to chemotherapy. The third reported case of Sinonasal PMMTI in a 3-year-old child with a three-month history of snoring and dyspnea following surgical recurrence. Medial maxillectomy using Rouge-Denker approach allowed en bloc resection through oropharynx. Detection of <i>BCOR</i> internal tandem duplication in the preoperative biopsy evaluation made the diagnosis of PMMTI and helped to differentiate it from the most closely associated diagnoses, especially Congenital infantile fibrosarcoma (CIFS). In contrast to CIFS, PMMTI is unresponsive to chemotherapy, making primary treatment difficult and establishing surgical excision as the gold standard. As molecular genetic techniques advance, diagnostic accuracy has become increasingly precise. Such is the case of PMMTI, which its target treatment is the surgical excision. This reminds the need for close collaboration between the pathologist, molecular biologist and the surgeon in managing such rare cases.</p>

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Sinonasal Primitive Myxoid Mesenchymal Tumor of Infancy: Molecular Genetic Diagnosis and Surgical Treatment

  • 期刊论文

  • 发表日期：

    2026年3月13日

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  • Gustavo Pedrosa Rocha,
  • Ana Hebe,
  • Ricardo Pacheco,
  • Miguel Magalhães,
  • Maria Manuel Lemos,
  • Carmo Martins

摘要

Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a rare recently described myofibroblastic tumor with intermediate aggressiveness, characterized by a high recurrence, rare metastasis and poor response to chemotherapy. The third reported case of Sinonasal PMMTI in a 3-year-old child with a three-month history of snoring and dyspnea following surgical recurrence. Medial maxillectomy using Rouge-Denker approach allowed en bloc resection through oropharynx. Detection of BCOR internal tandem duplication in the preoperative biopsy evaluation made the diagnosis of PMMTI and helped to differentiate it from the most closely associated diagnoses, especially Congenital infantile fibrosarcoma (CIFS). In contrast to CIFS, PMMTI is unresponsive to chemotherapy, making primary treatment difficult and establishing surgical excision as the gold standard. As molecular genetic techniques advance, diagnostic accuracy has become increasingly precise. Such is the case of PMMTI, which its target treatment is the surgical excision. This reminds the need for close collaboration between the pathologist, molecular biologist and the surgeon in managing such rare cases.