J Med Genet 37:146-150 doi:10.1136/jmg.37.2.146
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Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

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Figure 3
Figure 3

Intestinal neuronal dysplasia. Suction biopsies of the rectum, sigmoid, and left colon, and the subsequent colectomy specimen were routinely processed for histology and immunostained for neurone specific enolase (NSE), a marker of neurones, and protein S100, a marker of Schwann cells, in order to identify intrinsic nervous structures better. In addition, acetylcholinesterase activity could be ascertained from an archival frozen sample. (A) Abnormally increased density of the nervous structures (arrows) and Schwann cell hyperplasia are consistent with hyperplasia of the rectal submucosal plexuses; ganglion cells (double arrow) are occasionally visible at this magnification (haematoxylin, eosin, and saffron, scale=400 μm). (B) “Giant” submucosal sigmoid ganglion, that is, containing more than 10 neurones (arrows) with typical, large, amphophilic cytoplasm (haematoxylin, eosin, and saffron, scale=150 μm). Neurones of a myenteric plexus are visible after immunostaining with anti-NSE antibody (C, arrows) and are negative for antiprotein S100 antibody, which specifically stains the Schwann cells (D, arrows) (serial sections, immunoperoxidase, scale=150 μm). (E) A myenteric sigmoid plexus showing numerous neurones (arrows, haematoxylin, eosin, and saffron, scale=400 μm). (F) Acetylcholinesterase staining of the rectal muscular layer showing numerous, coarse, and undulating fibres (dark) (frozen section, scale=750 μm).

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