Unequivocal submucosal ganglion cell hyperplasia (ganglioneuromatosis
) is often encountered in humans with hamartomatous genetic disorders, such as multiple endocrine neoplasia type 2B (MEN 2B), neurofibromatosis type 1, and PTEN-hamartoma syndromes.
MEN2B is associated with an aggressive form of MTC (100.0%; usually incurable if diagnosed [greater than or equal to] 13 yo), PHEO (58.0%), marfanoid habitus, and ganglioneuromatosis
of the gut and oral mucosa [57, 59-61].
They are of three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis
Joanne was given drugs to manage the pain and it wasn't until April 2016 that a doctor in Edinburgh finally diagnosed the tumour as ganglioneuromatosis
Her condition, ganglioneuromatosis
, causes overgrowth of nerve tissue in the walls of the upper gastrointestinal tract.
Peripheral nerve sheath tumors such as neurofibroma, diffuse neurofibromatosis, and ganglioneuromatosis
are much less common [5, 6].
MEN2B is characterized with MTC, pheochromocytoma, mucosal neuromas, ganglioneuromatosis
of the gut, and marfanoid habitus.
and neurofibromatosis are the pathologic forms of gastrointestinal involvement.
Multiple mucosal neuromas are pathognomonic for MEN2B (Mucosal Neuroma Syndrome), an autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromoctyoma, and gastrointestinal ganglioneuromatosis
. A marfanoid body habitus and peculiar facies with everted eyelids, flat nasal bridge, and enlarged nodular lips are characteristic.
refers to masslike intramural or transmural expansions of the myenteric plexus and nerve tracts by neural, glial, and stromal elements and are associated with neurofibromatosis 1 and multiple endocrine neoplasia type IIb.
Patients with MEN 2 B also develop medullary thyroid carcinoma (100%) and may also have intestinal ganglioneuromatosis
. Although medullary thyroid cancer and pheochromocytoma account for most of the morbidity and mortality associated with MEN 2B, the nonendocrine physical findings are important in identifying at-risk individuals early in life .
: mucosal and transmural types--a clinicopathologicand immunohistochemical study of six cases.