PMC2881068_01
Clinical manifestations of NF1: multiple cutaneous neurofibromas and cafe-au-lait spots.
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F1
He had no family history and had developed multiple neurofibromas and cafe-au-lait spots on his body (Figure 1).
Hematoxylin and eosin and S-100 staining of the tumors of the thigh treated surgically in 1990 (A, B), recurrent tumor operated in 1995 (C, D) and metastatic tumor in heart (E, F) and lung (G, H) at autopsy in 2007. A, C, E, G: Hematoxylin and eosin staining; B, D, F, H: S-100 immunohistochemistry. Histological factors such as cellularity, degree of nuclear atypia, mitotic counts, and S-100 immunoreactivity were similar among the specimens.
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F2
Wide resection was performed in November 1990 (Figure 2). Histological images of cardiac and pulmonary tumor were similar to those of the tumor of the right leg that was amputated in 2005 (Figure 2).
Magnetic resonance imaging showed a large tumor in the inferior-posterior wall of the heart. (A) Frontal cross section. Size: 7.5 cm. (B) Horizontal cross section. Size: 9 cm. (C) Sagittal cross section. Size: 6.5 cm.
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F3
Magnetic resonance imaging showed the presence of a large tumor (9 cm) in the inferior-posterior wall of the heart (Figure 3).
Autopsy specimen showing a tumor in the heart.
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F4
At autopsy, the cardiac mass was confirmed histologically as MPNST (Figure 4).