Melanotic neuroectodermal tumor of infancy: a case report / Tumor neuroectodérmico melanocítico de la infancia: reporte de caso

Abstract Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare neoplasm originating from neural crest cells, which generally affects pediatric patients, most frequently during the first year of life. The behavior of MNTIs is benign, locally aggressive, with a recurrence of 10-15% and eventually malignant in 6.97%. This study describes the clinical, imaging, histopathological, immunohistochemical characteristics and the management of MNTI in a 5-month-old girl, whose lesion was resected and monitored. The present case illustrates the benefits of multidisciplinary integration for a correct diagnosis to ensure adequate therapeutic management, in addition to providing a report on this rare and understudied pathology.

Resumen El Tumor Neuroectodérmico Melanocítico de la Infancia (TNEMI) es una neoplasia infrecuente derivada de las células de la cresta neural, que afecta generalmente pacientes pediátricos y se presenta con mayor frecuencia durante el primer año de vida. Su comportamiento es benigno, localmente agresivo, con una recurrencia de 10% a 15% y eventualmente maligno en un 6.97%. En este estudio se describen las características clínicas, imagenológicas, histopatológicas, inmunohistoquímicas y el manejo del TNEMI en una niña de 5 meses de edad, a la cual se le realizó resección de la lesión y seguimiento. El presente caso ilustra el beneficio de la integralidad multidisciplinaria que permite establecer un diagnóstico correcto para asegurar un manejo terapéutico adecuado, además de aportar un reporte sobre esta patología poco frecuente y estudiada.

Melanotic neuroectodermal tumor of infancy: a clinicopathological case report

Abstract Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm that affects mainly children under 1 year of age. A 4-month-old boy was referred for evaluation of a lesion with 1 month of evolution. Intra-oral examination detected a firm upon palpation submucosal nodular mass, measuring 1.5 cm in diameter, affecting the anterior maxillary alveolar ridge and covered by a slightly blue mucosa with evident telangiectasia. The patient underwent an incisional biopsy and histological and immunohistochemical analyses revealed nests of AE1/AE3 positive epithelioid cells with abundant melanin pigmentation. Other cell types, resembling neuroblasts, were also present and positive for CD56, synaptophysin and enolase. The diagnosis of MNTI was established and the patient was referred for treatment. Conservative surgical resection was performed along with 3 adjacent teeth under general anesthesia. The patient is in follow-up for 1,5 year without recurrence. Conservative surgical management of MNTI may be an alternative to maxillectomy, contributing to the patient´s quality of life.

Resumo Tumor neuroectodérmico melanótico da infância (TNMI) é um neoplasma raro que afeta principalmente crianças com idade abaixo de 1 ano. Um menino de 4 meses foi referenciado para avaliação de uma lesão com 1 mês de evolução. O exame intra-oral detectou uma massa nodular submucosa firme à palpação, medindo 1,5 cm de diâmetro, afetando rebordo alveolar anterior da maxila e recoberta por mucosa de coloração levemente azulada com telangiectasia evidente. O paciente foi submetido à biopsia incisional e as análises histológica e imunohistoquímica revelaram ninhos compostos por células com abundante pigmento de melanina, positivas para AE1/AE3. Outro tipo celular, semelhante à neuroblastos, também estava presente e foram positivas para CD56, sinaptofisina e enolase. O diagnóstico de TNMI foi estabelecido e o paciente encaminhado para tratamento. Ressecção cirúrgica conservadora sob anestesia geral ao longo de 3 dentes adjacentes foi realizada. O paciente está em acompanhamento há 1 ano e meio sem sinais de recorrência. O tratamento cirúrgico conservador do TNMI pode ser uma alternativa à maxilectomia, contribuindo para a qualidade de vida do paciente.

Clinical and immunohistochemical study of melanotic neuroectodermal tumor of infancy in the maxilla / Estudo clínico e imuno-histoquímico de tumor neuroectodérmico melanocítico da infância em maxila

ABSTRACT Melanotic neuroectodermal tumor of infancy is a rare and fast-growing neoplasm. In this study, we describe the case of a 6-month-old female patient, who presented swelling in the anterior maxilla. Tomographic reconstruction showed an unilocular hypodense and expansive area associated with the upper right central primary incisor. The presumptive diagnoses were dentigerous cyst, adenomatoid odontogenic tumor, melanotic neuroectodermal tumor of infancy and rhabdomyosarcoma, and an incisional biopsy was performed. Microscopically, the lesion revealed a biphasic cell population, consisting of small, ovoid, neuroblastic-like cells and epithelioid cells containing melanin. Immunohistochemically, the melanocyte-like component was strongly and diffusely positive for HMB-45 and Melan-A, but weakly positive for S100. Based on these findings, definitive diagnosis of melanotic neuroectodermal tumor of infancy was established. Then, enucleation of the lesion was performed by careful curettage. After 2 year follow-up, no clinical or radiographical evidence of recurrence was verified. The present case highlights the importance of early diagnosis and therapeutic intervention at the appropriate time to achieve a favorable outcome for the patient.

RESUMO O tumor neuroectodérmico melanocítico da infância é uma neoplasia rara e de crescimento rápido. Neste estudo, relata-se o caso de uma paciente do sexo feminino de 6 meses de idade, que apresentou tumefação na região anterior de maxila. A reconstrução tomográfica revelou área unilocular hipodensa e expansiva associada ao incisivo central superior direito decíduo. Realizou-se biópsia incisional, considerando as hipóteses diagnósticas de cisto dentígero, tumor odontogênico adenomatoide, tumor neuroectodérmico melanocítico da infância e rabdomiossarcoma. Microscopicamente, a lesão revelou população celular bifásica, consistindo de células pequenas, ovoides, de aparência neuroblástica, e de células epitelioides, contendo melanina. A análise imuno-histoquímica demonstrou que o componente celular contendo melanina era positivo de forma intensa e difusa para HMB-45 e Melan-A, mas levemente positivo para S100. Com base nestes achados, foi estabelecido o diagnóstico definitivo de tumor neuroectodérmico melanocítico da infância. Em seguida, foi realizada a enucleação da lesão com curetagem cuidadosa. Após 2 anos de acompanhamento, não foram verificadas evidências clínicas ou radiográficas de recorrência. O presente caso destaca a importância do diagnóstico precoce e da intervenção terapêutica no momento apropriado, a fim de alcançar um desfecho favorável para o paciente.

Abordagem odontológica com obturador palatino imediato em um paciente portador de tumor neuroectodérmico melanótico da infância: relato de caso / Dental strategy with immediate palatal obturator in a patient with melanotic neuroectodermal tumor of infancy: case report

O objetivo do presente artigo é relatar a abordagem odontológica com obturador palatino imediato diferenciado em um caso clínico de tumor neuroectodérmico melanótico da infância, ocorrido no Instituto Nacional de Câncer José Alencar Gomes da Silva, realizando uma revisão da literatura e abordando o atendimento multidisciplinar como garantia do cuidado integral ao paciente. Lactente, 4 meses, sexo masculino, tumoração em maxila esquerda, foi encaminhado à seção de Odontologia para confecção de obturador palatino com projeção maxilar. O paciente que é submetido a um tratamento mutilador na tentativa de cura de alguma neoplasia de cabeça e pescoço necessita de conforto, bem-estar e um cuidado integral da equipe multidisciplinar, sendo o cirurgião-dentista parte dessa equipe.

The aim of this paper is to report a dental strategy with a differentiated immediate palatal obturator in a case of melanotic neuroectodermal tumor of infancy, held at the National Cancer Institute José Alencar Gomes da Silva, by performing a literature review and addressing the multidisciplinary treatment as a guarantee of integral care for the patient. Infant, 4 months, male, tumor in the left maxilla, was referred to the Odontology section for a palatal obturator confection with maxillary projection. The patient who is submitted to a mutilating treatment in an attempt to cure any head and neck neoplasm needs comfort, wellness and integral care from the multidisciplinary team, being the dentist part of it.

Tumor neuroectodermal melanótico de la infancia en los maxilares: reporte de dos casos / Melanotic neuroectodermal tumor of infancy on the jaws report of two cases

El Tumor Neuroectodermal Melanótico de la Infancia (TNMI) es un tumor raro que se presenta en infantes antes de un año de edad. Es un tumor de crecimiento rápido, que afecta el maxilar. En la mayoría de los casos es benigno. Reportamos dos casos atendidos en el Instituto Nacional de Enfermedades Neoplásicas. Los pacientes fueron 2 Infantes, de 4 a 7 meses de edad, en el maxilar inferior y superior respectivamente. En ambos casos se realizó resección quirúrgica del Tumor. El diagnóstico se corrobora con Inmunohistoquímica marcadores S-100 y Sinaptofísina y Panqueratina. La evolución fue favorable y ambos pacientes viven.

Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare neoplasm occurring in infants before one year of age. It is a neoplasm of fast growth that affects maxilla. In most of the cases it is benign. We reported two cases attended at the Instituto Nacional de Enfermedades Neoplásicas. The patients were two infants, of 4 and 7 months old, in the mandible and maxilla respectively. In both cases the treatment was surgical excision. The diagnosis is corroborated with Inmunohistochemestry markers, S-100, Sinaptofisin and Pankeratin. The evolution was favorable and both patients are alive.

Multicentric melanotic neuroectodermal tumor of infancy: a case report

A melanotic neuroectodermal tumor of infancy (MNTI) is a uncommon osteolytic pigmented neoplasm that primarily affects the jaws of newborn infants. Most patients (> 90%) present with the tumor in the first year of life. Approximately 65% form in the maxilla, 11% in the mandible, 5% in the brain and elsewhere. MNTI is normally benign, but up to 15% may recur and a few have metastasized. Approximately 200 cases of MNTI have been reported but only 2 of them presented as multifocal. A case of MNTI in a 7 month old boy was encountered. The chief complaint was maxillary anterior ridge swelling. The incisional biopsy findings were MNTI. Two months after the first operation, mild swelling of another site was observed. The infant was examined periodically since undergoing two procedures with no recurrence. This case demonstrates the possibility of a multicentric MNTI. We report a multicentric MNTI with a review of the relevant literature.

Melanotic neuroectodermal tumour of infancy: a case report.

A case of melanotic neuroectodermal tumor of infancy occurring in the maxilla in a 13 day old neonate is described. Computed tomography and histopathology confirmed the diagnosis and a submucosal excision was carried out when the infant was 30 days old. But three weeks later the patient reported back with a recurrence and a wide surgical excision was performed. The recurrence may have been caused by incomplete removal of the tumor cells and the initial surgical procedure may have stimulated tumour cell proliferation. Fortunately, 6 month follow up of the patient showed no recurrence.

Melanotic neuroectodermal tumor of infancy: case report

O tumor melanótico neuro-ectodérmico da infância é raro, localmente agressivo, originado da maxila ou da mandíbula, raramente originando-se da calota craniana. Relatamos o caso de um menino de 4 meses de idade que apresentava lesão abaulada com crescimento progressivo no couro cabeludo. O exame neurológico apresentava desenvolvimento neuro-psicomotor adequado. A tomografia computadorizada e a ressonância magnética do encéfalo mostravam lesão que impregnava pelo contraste, deslocando anterior e inferiormente o seio sagital superior. Com o objetivo de prevenir o risco do sangramento excessivo, o procedimento foi realizado em três tempos, com remoção completa da lesão. Baseados na ausência de recidiva do tumor, acreditamos no bom prognóstico neurológico e na possibilidade de cura, embora o paciente não tenha sido submetido a nenhum tratamento adjuvante.

Recurrent melanotic neuroectodermal tumour of infancy of the epididymis and testis: a case report.

Melanotic neuroectodermal tumor of infancy or melanotic progonoma is an uncommon tumor, presenting in infants. The epididymis and testis are rare sites of occurrence. This tumor can be confused with round cell tumor (RCT). Since the treatment modality and prognosis of melanotic progonoma and RCT are very different, it is imperative to make a correct diagnosis.

Tumor neuroectodérmico melanocítico da infância (progonoma): relato de caso enfatizando os aspectos tomográficos e revisão da literatura / Melanotic neuroectodermal tumor of infancy (progonoma): a case report emphasizing the computed tomography findings and literature review

O tumor neuroectodérmico melanocítico da infância, também conhecido como progonoma, é uma enfermidade rara, benigna, originária da crista neural e que aparece no primeiro ano de vida, acometendo preferencialmente a maxila. Os autores relatam um caso raro deste tumor na maxila de uma criança de dez meses de idade, dando ênfase aos aspectos diagnósticos na tomografia computadorizada, e fazem uma revisão da literatura.

A Case of Melanotic Neuroectodermal Tumor of Infancy / 대한이비인후과학회지

The melanotic neuroectodermal tumor of infancy (MNTI) is a rare osteolytic pigmented neoplasm that most frequently arises from the anterior maxillary alveolar ridge. It presents in the first few months of life, and usually follows a benign course. We present a 5-month-old girl with a melanotic neuroectodermal tumor of infancy of maxilla.

Melanotic Neuroectodermal Tumor of Infancy in the Epididymis: A Case Report / 소아과

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm known by a variety of names including melanotic progonoma and retinal anlage tumor, and currently thought to be neural crest derivation. The vast majority develop within the first year of life. The behavior is generally benign, but recurrent and metastatic cases have been documented. It arises in the head and neck in over 90%, mainly in the maxilla, but is extremely rare in the epididymis. We report a case of MNTI together with a review of literature, which occurred in the right epididymis of a 6-month-old boy who presented with a painless, slowly growing, scrotal mass and was treated with radical orchiectomy.

Melanotic neuroectodermal tumour in an infant.

Most jaw swellings in infancy are benign odontogenic cysts or tumours. The encounter with an unusual melanotic neuroectodermal tumour of the jaw in a young infant is described in this report. There has been no recurrence, after complete surgical excision, in a follow-up period of six months.

Tumor Neuroectodérmico primitivo melanótico de la infancia: reporte de un Caso / Neuroectodermal tunmor melanotic

El tumor neuroectodérmico primitivo melanótico de la infancia es una neoplasia poco común, originada en la cresta neural. Se presenta frecuentemente en los huesos orofaciales, pero se ha informado en múltiples localizaciones. La mayoría de las veces afecta a lacatantes menores de 12 meses de edad. Tiene un curso benigno, por lo cual el tratamiento es fundamentalmente la resección completa de la lesión. Se describe el caso de un niño de 4 meses de edad con un tumor orbitario con extensión intracraneana manejado quirúrgicamente con buena evolución.

Melanotic neuroectodermal tumor of infancy / 대한구강악안면방사선학회지

The melanotic neuroectodermal tumor of infancy is a rare neoplasm arising in the first year of life. A 33-day-old female infant had an enlarged alveolar ridge on the right anterior maxilla. Intraoral examination revealed a nonulcerative swelling at the site. An intraoral radiograph showed an ill-defined radiolucency on the right anterior maxilla and displacement of primary incisors from their alveolar sockets. CT scans revealed an expansion of the surrounding bone and partial destruction of the anterior wall of the premaxilla. Histopathologic examination showed the cytoplasm of neuroblastic cells and eosinophilic, epithelioid cells frequently contained a dark brown granular pigment that stained positively to vimentin and HMB45, focally positive to NSE and cytokeratin. Four weeks after the operation, CT scans showed a rapidly growing soft tissue mass occupying right maxillary sinus encroaching to the orbit and nasal cavity. The final diagnosis was made as a malignant melanotic neuroectodermal tumor of infancy.

Melanotic neuroectodermal tumor of infancy / 대한구강악안면방사선학회지

The melanotic neuroectodermal tumor of infancy is a rare neoplasm arising in the first year of life. A 33-day-old female infant had an enlarged alveolar ridge on the right anterior maxilla. Intraoral examination revealed a nonulcerative swelling at the site. An intraoral radiograph showed an ill-defined radiolucency on the right anterior maxilla and displacement of primary incisors from their alveolar sockets. CT scans revealed an expansion of the surrounding bone and partial destruction of the anterior wall of the premaxilla. Histopathologic examination showed the cytoplasm of neuroblastic cells and eosinophilic, epithelioid cells frequently contained a dark brown granular pigment that stained positively to vimentin and HMB45, focally positive to NSE and cytokeratin. Four weeks after the operation, CT scans showed a rapidly growing soft tissue mass occupying right maxillary sinus encroaching to the orbit and nasal cavity. The final diagnosis was made as a malignant melanotic neuroectodermal tumor of infancy.

Melanotic neuroectodermal tumour of infancy: a case report.

Melanotic Neuroectodermal Tumour of Infancy is a rare tumour. Prompt recognition of such a case is essential for the Pediatric Dentist Presented here is a case of a four and a half month old child who reported in the dental out patient department of Guru Teg Bahadur Hospital with a swelling in the right anterior maxillary ridge region.

Pineal Anlage Tumor: A case report

The term "pineal anlage tumor" has been recently proposed and few cases have been reported. We report the first Korean case of pineal anlage tumor in a 6-year-old girl who complained of headache and vomiting for 2 months. Brain MRI revealed a well defined, lobulated, calcifying mass in the pineal region. Tumor was totally removed. Pathological examination revealed a primitive pineal parenchymal tumor with melanotic epithelial component that was similar to histologic findings of melanotic neuroectodermal tumor of infancy, so-called retinal anlage tumor and of the developing pineal gland. The tumor was composed mostly of small, undifferentiated cells, Flexner-Wintersteiner rosettes, and ganglionic differentiation. The tumor also contained the cartilage and skeletal muscle cells.

Malignant melanotic neuroectodermal tumour of infancy affecting the occipital squama.

An unusual case of a melanotic neuroectodermal tumour of the occipital squama, which underwent malignant transformation in a nine-month-old infant is reported and pertinent literature reviewed.