PMC4630200_01
External appearance of a 15-year-old boy.. Note: NF1 skin findings, including cafe au lait spots and peripheral neurofibromas, are seen throughout his body.. Abbreviation: NF1, neurofibromatosis type 1.
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There were typical NF1 skin findings such as cafe au lait spots and peripheral neurofibromas all over the body (Figure 1).
MRI appearance of a 13x9 cm mass at the anteromedial thigh.. Notes: (A) Isointense in T1W images, (B) heterogeneously iso- to hyperintense in T2W images, and (C) diffusely contrast enhancing except cystic areas, with posterior extension in postcontrast images.. Abbreviations: MRI, magnetic resonance imaging; T1W, T1 weighted; T2W, T2 weighted.
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Magnetic resonance imaging (MRI) revealed a 13x9 cm mass at the anteromedial thigh with posterior extension, which was isointense in T1 weighted (T1W) images, heterogeneously iso- to hyperintense in T2 weighted (T2W) images, and diffusely contrast enhancing except the central cystic areas in the postcontrast images (Figure 2).
Macroscopic appearance of the mass after surgical excision.
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Histopathological evaluation revealed a smooth-surfaced, grayish-brown 13x9x9 cm solid mass weighing 610 g, which appears nodular and heterogeneous (Figure 3).
Appearance after histopathological and immunochemical staining.. Notes: (A) Immunohistochemical staining; S-100 positivity in tumor cells, (B) cellular tumoral area (H&E staining; original magnification: x100), (C) pleomorphic (red arrows) and multinuclear (yellow arrows) tumor cells (H&E staining; original magnification: x200).. Abbreviation: H&E, hematoxylin and eosin.
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CD-56, CD-99, and P-53, as well as 80% positivity for Ki-67 staining (Figure 4). Considering these data, the lesion was diagnosed as MPNST (Grade-3; Federation Nationale des Centres de Lutte Contre le Cancer).