Abstract
IntroductionThe neurofibromatoses are inherited tumor predisposition syndromes involving two major clinical phenotypes: neurofibromatosis type 1 (von Recklinghausen's disease) is linked to chromosome 17q, and tends to occur seven times more frequently than neurofibromatosis type 2. Neurofibromatosis type 1 entails a distinctive cutaneous manifestation prevailed upon by benign neurofibromas, which may vary in size, number and distribution. On the histological level, neurofibromas are composed of an admixture of neurilemmal cells, including Schwann cells, fibroblasts, and – to a lesser extent – perineurial cells.Case presentationThe case of a 39-year-old Caucasian man with a voluminous recurrent neurofibroma of 27×15cm extending from the left gluteal region to thoraco-lumbar levels Th6 through L4 is reported. Within the soft tissue tumor a pseudocyst of 7.3×9.3cm was found preoperatively.ConclusionHistopathological study of the excised mass was conspicuous for revealing a large number of multinucleated floret-like giant cells within an otherwise classical soft tissue neurofibroma.Previous reports on neurofibromas with multinucleated floret-like giant cells are distinctly scant. Available evidence from the literature does not suggest any consistent correlation of multinucleated floret-like giant cells in neurofibromas with gender, age, traumatic antecedents, size of the lesion, recurrence, or malignant transformation. Furthermore, the presence of such cells may not be specific for neurofibromatosis type 1, as they occasionally are encountered in some unrelated mesenchymal neoplasms as well.
Highlights
The neurofibromatoses are inherited tumor predisposition syndromes involving two major clinical phenotypes: neurofibromatosis type 1 is linked to chromosome 17q, and tends to occur seven times more frequently than neurofibromatosis type 2
Histopathological study of the excised mass was conspicuous for revealing a large number of multinucleated floret-like giant cells within an otherwise classical soft tissue neurofibroma
The presence of such cells may not be specific for neurofibromatosis type 1, as they occasionally are encountered in some unrelated mesenchymal neoplasms as well
Summary
Having discussed earlier that FMGCs are not specific for NF1, and may appear in other tissue, further studies are warranted to clarify the etiopathogenesis of FMGCs together with possible association of long-term risk of neoplastic changes in NF1 [5,11,12,13]. Consent Written informed consent was obtained from the patient for publication of this manuscript and accompanying images. Authors’ contributions All authors have contributed significantly to the manuscript. KS: Literature search, manuscript writing and submission, surgical procedure. SDK: Manuscript review and corrections, literature review. IV: Histopathological expertise, literature review, documentation, manuscript corrections. MC: Surgical procedure, patient treatment, manuscript concept and corrections. IV performed the histological examination of the tissue and MC was a major contributor in writing the manuscript. All authors read and approved the final manuscript. Author details 1Department of Plastic and Hand Surgery, University Hospital, Inselspital and University of Bern, Bern, Switzerland.
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