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Melanotic neuroectodermal tumour of infancy (MNTI) is an uncommon tumour, predominantly occurring in head and neck, mostly maxilla, but also in skull and mandible. Although a benign lesion, it is known to recur in 15%-27% of cases, and rarely, may undergo malignant transformation. We present a case of a 5-month-old female patient, who presented with a gradually progressive swelling in the right thigh. On imaging, an osteolytic lesion was seen, involving the metadiaphysis of shaft of right femur. A biopsy was performed, on which diagnosis of MNTI was made. MNTI is rarely seen in extremities. To the best of our knowledge, only six cases have been reported in femur, the present case being the seventh. The tumour showed spontaneous regression on follow-up in our patient, which has rarely been described. A knowledge of characteristic morphology and immunohistochemistry is the key to differentiate it from other tumours.

Melanotic neuroectodermal tumour of infancy presenting as a lytic lesion in femur: a rare tumour at a rare site with an unusual behaviour