Challenges in the diagnosis of intestinal neuronal dysplasia type B: A look beyond the number of ganglion cells

Table 3 Immunohistochemical markers for the diagnosis of intestinal neuronal dysplasia type B

Immunohistochemical marker	Immunoexpression pattern
Bcl-2[54]	Positive expression in immature and mature ganglion cells
Calretinin[39,54]	Positive expression in mature ganglion cells in submucosal and myenteric plexuses
	Positive expression in intrinsic nerve fibers and ectopic neurons in the mucosa
c-kit[60-62]	Positive expression in Cajal cells in muscle layers and myenteric nerve plexuses
GAP43[63]	Absence of expression in muscularis mucosae and/or in the circular muscular and/or longitudinal muscular
	Positive expression in nerve plexuses
Hu C/D[38]	Positive expression in mature ganglion cells in submucosal and myenteric plexuses
NGF (mast cells)[64]	Expression of mast cells close to ganglia
NCAM (CD56)[60,61,63,65]	Positive expression in neurons of the muscular layers
	Variable expression in nerve fibers in muscle layers and mucosa
NO synthase[66]	Positive expression in ganglion cells
NSE[61]	Positive expression in nerve fibers in the muscle layers and mucosa
Peripherin[66,67]	Positive expression in ganglion cells
PGP9.5[60,68]	Positive expression in enlarged nerve trunks, hyperplastic nerve ganglia, and heterotopic nerve cells
	Positive expression in neurons of the inner intestinal muscle layer
PTEN[69]	Reduced expression in submucosal and myenteric nerve plexuses
RET[54,66]	Positive expression in mature and immature ganglion cells
S100[60,61,66]	Positive expression in ganglion cells
	Positive expression in nerve fibers in the muscular layers and mucosa
Synaptophysin[60,62,63,65,66,70]	Positive expression in synaptic vesicles in plexuses and nerve fibers
SMA (1a4)[61,71]	Positive expression in muscle fibers from muscular layers and muscularis mucosa
Sox10[46]	Positive expression in glial and ganglion cells in nerve plexuses

Bcl-2: B-cell lymphoma 2; c-kit: Transmembrane tyrosine kinase receptor; GAP43: Growth associated protein 43; Hu/CD: RNA binding protein Hu (HuC and HuD) - also referred to as type-1 anti-neuronal nuclear antibodies (ANNA-1); NGF: Nerve growth factor; NCAM: Neural cell adhesion molecule; NO: Nitric oxide; NSE: Neuron-specific enolase; PGP9.5: Protein gene product 9.5; PTEN: Phosphatase and tensin homologue deleted on chromosome 10; RET: Rearranged during transfection - immunohistochemical detection of RET proto-oncogene; SMA: Smooth muscle antibody; Sox10: SRY-box transcription factor 10.