Melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumor of infancy is a very rare oral cavity tumor that is seen in patients usually at or around birth. It must be removed to be cured. Definitions: A rare, biphasic, neuroblastic, and pigmented epithelial neoplasm of craniofacial sites, usually involving the oral cavity or gums. Melanotic neuroectodermal tumor of infancy is a very rare oral cavity tumor that is seen in patients usually at or around birth. It must be removed to be cured. Definitions: A rare, biphasic, neuroblastic, and pigmented epithelial neoplasm of craniofacial sites, usually involving the oral cavity or gums. Most patients present with a very rapidly growing mass that often gives a bluish appearance in the mouth. This is because the pigmentation in the cells appears blue through the overlying epithelium (mucosa). By imaging studies, there is usually a large expansive radiolucent (clear) mass without well defined borders. Calcifications within the mass may be seen. More than 70% involve the maxilla (usually maxillary anterior alveolar ridge), while the mandible and skull are affected less often. There is often an elevated vanilmandelic acid level. It is considered to be a developmental anomaly, and thus is congenital in presentation. It is thought to be derived from neural crest, which is one of the embryologic tissue types. The reason for this postulation is based on the expression of melanotransferrin (melanoma-specific peptide that may play role in iron metabolism). Usually there is a smooth, firm mass, with mottled white-gray to blue-black cut surfaces. The overall size ranges from 1–10 cm with a mean size 3.5 cm. The tumor is usually very well circumscribed but not encapsulated. There are two cell types present (biphasic), arranged in alveolar or tubular configurations. There are centrally located, small, darkly staining cells comprising the majority of cells. These cells have a fibrillary cytoplasm surrounding round nuclei with coarse and heavy nuclear chromatin. These cells are surrounded by much larger polygonal cells that have open nuclear chromatin and abundant opaque cytoplasm that has granular melanin pigment. There is usually no hemorrhage, necrosis or increased mitoses. The lesional cells will show cross reactivity with several different families of immunohistochemistry markers (polyphenotype), including neural, melanocytic, and epithelial. It is important in this age group to exclude other tumors that can have a similar appearance, such as rhabdomyosarcoma, lymphoma, Ewing sarcoma (primitive neuroectodermal tumor), or even a melanoma (although they are very very rare in infants).