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Primary Leiomyosarcoma of the Hand in a Patient with Neurofibromatosis Type 1

Vishal Shwetal Desai, Rafael Kakazu, Alvin H Crawford, Amy Sheil, Joel Sorger

Abstract


Indroduction: NF1 is an autosomal dominant disorder that reduces the effectiveness of the neurofibromin tumor suppressor, resulting in an increased risk for benign and malignant soft tissue tumors. Leiomyosarcoma, a type of soft tissue sarcoma, has been infrequently observed in NF1 patients. This study adds to the limited number of leiomyosarcomas reported in NF1 patients. This particular malignancy presented in a highly unusual location. To our knowledge, this is the first report of an NFI patient who developed a primary leiomyosarcoma of the hand.

Case Presentation: We report an NF1 patient who presented with a 4-month history of pain and swelling of his right fifth finger. Initial imaging revealed a soft tissue mass measuring 3.1x2.9x3.5 cm with destruction of the fifth proximal phalanx. A radical ray excision was carried out to the distal two-thirds of the metacarpal. Pathology review yielded a diagnosis of leiomyosarcoma. Imaging studies including MRI performed at 6 weeks and 18 months post-operatively were normal. The patient has reported constant, subclinical dull pain to the right hand since the resection.

Conclusion: While the final diagnosis of the mass was not anticipated, we encourage a high degree of suspicion for malignancy in any patient with NF1 presenting with a mass following skeletal maturity regardless of its location.


Keywords


leiomyosarcoma; neurofibromatosis type 1; hand; resection

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References


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