MEN 3 D44.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 24.11.2022

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Synonym(s)

Gorlin-Vickers syndrome; Gorlin-Vickers Syndrome; MEN 2b; MEN-2b syndrome; MEN 3; MEN-3 syndrome; MEN type IIb; MEN Type IIb; Mucosal neuroma; Multiple endocrine neoplasia type IIb; Williams-Pollock syndrome

History
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Sipple, 1961; Williams and Pollock, 1966; Gorlin et al., 1968

Definition
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Rare, autosomal dominantly inherited tumor disease considered to be a variant of multiple endocrine neoplasms (MEN) with multiple mucosaneuromas and endocrine polyadenomatosis.

Etiopathogenesis
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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 features
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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.

Histology
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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.

Diagnosis
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Clinic with detection of neuromas, detection of the gene mutation.

Complication(s)
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Described is the development of myelodysplastic syndrome after chemotherapeutic treatment of a pat. with MEN 3 (Mull JL et al. 2016).

Prophylaxis
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Close-meshed sonographic examination of the thyroid gland; if necessary, prophylactic thyroidectomy. Exclusion of a pheochromocytoma.

Note(s)
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The designation MEN 3 has recently been introduced instead of the original designation MEN 2b.

Literature
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  1. Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
  2. Burgdorf WHC, Worret WI (1988) Carcinoma-associated genodermatoses. Dermatologist 39: 413-418
  3. 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.
  4. Hand JL et al (2003) Oral manifestations of genodermatoses. Dermatol Clin 21: 183-194
  5. Lee NC et al (2000) Multiple endocrine neoplasia type 2B--genetic basis and clinical expression. Surg Oncol 9: 111-118
  6. Mull JL et al (2016) Myelodysplastic syndrome Occurring in a patient with Gorlin syndrome. Pediatr Dermatol 33:e256-7.
  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.
  8. Sipple JH (1961) The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 31: 163-166
  9. 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
  10. Yip L et al (2003) Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg 138: 409-416

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Last updated on: 24.11.2022