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Case report
Melanotic neuroectodermal tumour of infancy presenting as a lytic lesion in femur: a rare tumour at a rare site with an unusual behaviour
  1. Nishu Bhardwaj1,
  2. Rajni Yadav1,
  3. Venkatesan Sampath Kumar2 and
  4. Shah Alam Khan2
  1. 1 Pathology, All India Institute of Medical Sciences, New Delhi, India
  2. 2 Orthopaedics, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Rajni Yadav; drrajniyadav{at}gmail.com

Abstract

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.

  • Pathology
  • Orthopaedics
  • Oncology
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Footnotes

  • Contributors NB, VSK: acquisition of data, analysis and interpretation of data, drafting of the article. RY, SAK: conception and design, review of literature, critical revision of article for intellectual content. All authors have approved the final version of the article and agree to be accountable for the article and ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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