Melanotic Neuroectodermal Tumor of Infancy with a Negative VMA: A Case Report and Review of the Presentation, Etiology, and Management

Abstract

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare rapidly growing tumor, which although benign, it is locally aggressive and destructive to the surrounding structures. The maxilla is the most commonly involved site, and MNTI is known to be locally aggressive if left untreated. Neural crest cells differentiate into sympathetic neurons that produce catecholamines. These catecholamines degrade, leaving the residual products homovanillic acid and vanillylmandelic acid (VMA). Because of this, patients with MNTI may have high levels of VMA in their urine and should be tested for this if MNTI is suspected. This is a presentation of a healthy 6-month-old girl with a 1-month history of swelling in the anterior maxilla. A computed tomography (CT) scan revealed a radiolucent lesion of the anterior maxilla, which following biopsy, was histologically diagnosed as MNTI, although the patient had normal levels of VMA. A three-dimensional model was reconstructed from the CT scan and used in planning surgical excision. A differential diagnosis of MNTI should be included in cases of infants presenting with fast growing expansile swelling in the head and neck region.

The recurrence of the melanotic neuroectodermal tumour of infancy: an unusual presentation of a rare tumour

“…The fact that there are only a few studies in the literature relating the tumour with radiological findings may complicate or confuse the investigative process [3].Regarding biological markers, there was no study of metabolites in this patient, once their usage is questionable in the literature. The VMA can be defined as a tumour marker since its urinary levels decrease after tumour resection [13]; however, it is not essential to define conducts, because even though the disease is present, the urinary analysis can be negative [14,15]. No molecular tests were performed on the tumour tissue sample, except for immunohistochemical markers.…”

Melanotic neuroectodermal tumor of infancy: A narrative review of dental aspects

“…The patients showed some similar manifestations such as no history of medications in the mothers during pregnancy ( Agrawal et al, 2020 , Chaudhary et al, 2014 ), bleeding ( Han et al 2019 ), swollen face, face deformity ( Wang et al, 2022 , Han et al, 2019 ), no fever or pain ( Cui et al 2015 ), some born with the MNTI, while some developed it a few months later. The problems caused by these projecting masses interfere with breathing and feeding, causing difficulties in breastfeeding and problems while eating; some patients had irritabilities ( Sailukar et al 2007 ); some of them had no history of airway feeding difficulties [14].…”

“…According to the findings and explanation presented, the treatment of MNTI relies primarily on surgical procedures, with a commitment to conservative ones. Most clinicians prefer two ways of treatment, either surgical excision (local excision) or curettage ( Moreau et al, 2018 , Cui et al, 2015 , Krishnamurthy et al, 2011 , Selim et al, 2008 ), while some clinicians advocate surgical resection, en-bloc excision ( Han et al, 2019 , Béogo et al, 2013 ), enculation ( Pinheiro et al 2013 ), and dissection ( Wang et al 2022 ), with all procedures performed under general anesthesia ( Cui et al, 2015 , Krishnamurthy et al, 2011 ). Previous treatment modalities included the use of chemotherapy and radiotherapy, but proved to be ineffective in preventing tumor recurrence ( Agrawal et al 2020 ); further, they are not suitable for surgical patients or to be used as adjuvant therapies before or after surgery ( Wang et al 2022 ).…”