Images (4)
MEN 3D44.8
Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare, autosomal dominantly inherited tumor disease considered to be a variant of multiple endocrine neoplasms (MEN) with multiple mucosaneuromas and endocrine polyadenomatosis.
EtiopathogenesisThis section has been translated automatically.
Autosomal dominant mutation of the RET prooncogene, a gene encoding a transmembrane tyrosine kinase mapped to chromosome 10q11.2. The mutation causes autonomous growth stimulation (see RET oncogene below). Sporadic cases are explained by new mutations.
Clinical featuresThis section has been translated automatically.
Marfanoid habitus (in some patients), multiple skin and mucous membrane neuromas (in 100% of cases: nodular affection of the lips (tapir snout - bumpy lips), buccal mucosa, palate and pharynx), medullary thyroid carcinomas (95% of cases: aggressive course!) and pheochromocytoma (50%), skeletal anomalies, possible parathyroid dysfunction (hyperparathyroidism), lentiginosis centrofacialis, neurological disorders, hyperplastic corneal nerves. Intestinal ganglioneuromatosis may cause severe constipation and/or diarrhea.
Remarkably, this syndrome is characterized by a high incidence of total paraesthetica. The pathogenetic relationship is unclear.
HistologyThis section has been translated automatically.
The histological picture corresponds to the "palisaded and encapsulated neuroma". Well defined, smaller and larger, nodular or strand-like tumor proliferations which can penetrate the entire dermis. The tumor convolutions are encapsulated by a delicate connective tissue envelope. The tumor parenchyma consists of interwoven strands with spindle cells that are cut in different directions. The nuclei show an undulating or comma-shaped pattern. Often perinuclear halo formations are detectable, so that the cytoplasm takes on a honeycombed aspect.
DiagnosisThis section has been translated automatically.
Complication(s)This section has been translated automatically.
Described is the development of myelodysplastic syndrome after chemotherapeutic treatment of a pat. with MEN 3 (Mull JL et al. 2016).
ProphylaxisThis section has been translated automatically.
Note(s)This section has been translated automatically.
The designation MEN 3 has recently been introduced instead of the original designation MEN 2b.
LiteratureThis section has been translated automatically.
- Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
- Burgdorf WHC, Worret WI (1988) Carcinoma-associated genodermatoses. Dermatologist 39: 413-418
- Gorlin RJ, Sedano HO, Vickers RA, Cervenka J (1968) Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid: A Syndrome: Cancer 22: 293-299.
- Hand JL et al (2003) Oral manifestations of genodermatoses. Dermatol Clin 21: 183-194
- Lee NC et al (2000) Multiple endocrine neoplasia type 2B--genetic basis and clinical expression. Surg Oncol 9: 111-118
- Mull JL et al (2016) Myelodysplastic syndrome Occurring in a patient with Gorlin syndrome. Pediatr Dermatol 33:e256-7.
- Qi XP et al. (2021) Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation. Endocr Metab Immune Disord Drug Targets 21:554-560.
- Sipple JH (1961) The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 31: 163-166
- Williams ED, Pollock DJ (1966) Multiple mucosal neuromata with endocrine tumours: A syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol 91: 71-80
- Yip L et al (2003) Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg 138: 409-416