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Management of MEN2 patients includes thyroidectomy including cervical central and bilateral lymph nodes dissection for MTC, unilateral adrenalectomy for unilateral pheochromocytoma or bilateral adrenalectomy when both glands are involved and selective resection of pathologic parathyroid glands for
154:
occurs in 33-50% of MEN2 cases. In MEN2A, primary hyperparathyroidism occurs in 10–50% of cases and is usually diagnosed after the third decade of life. Rarely, it may present in childhood or be the sole clinical manifestation of this syndrome.MEN2A associates medullary thyroid carcinoma with
166:
In familial isolated medullary thyroid carcinoma the other components of the disease are absent. In a review of 85 patients 70 had MEN2A and 15 had MEN2B. The initial manifestation of MEN2 was medullary thyroid carcinoma in 60% of patients, medullary thyroid carcinoma synchronous with
196:(transforming growth factor beta) signaling system. Because the TGF-beta system operates in nervous tissues throughout the body, variations in the RET gene can have effects in nervous tissues throughout the body. MEN2 generally results from a gain-of-function variant of a
495:
Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, Gagel RF, Cote G, Waguespack SG, Habra MA, Jimenez C (2013) The characterization of pheochromocytoma and its impact on overall survival in
Multiple Endocrine Neoplasia type 2. J Clin Endocrinol
653:
638:
358:
primary hyperparathyroidism. Familial genetic screening is recommended to identify at risk subjects who will develop the disease, permitting early management by performing prophylactic thyroidectomy, giving them the best chance of cure.
246:
Diagnosis is suspected when a patient with family history of two of the three classical tumors (medullary thyroid cancer, pheochromocytoma, parathyroid adenoma) or MEN2 presents with one of the classical tumors. It is confirmed by
775:
587:
Donovan DT, Levy ML, Furst EJ, Alford BR, Wheeler T, Tschen JA, Gagel RF (1989) Familial cutaneous lichen amyloidosis in association with multiple endocrine neoplasia type 2A: a new variant. Henry Ford Hosp Med J
768:
155:
pheochromocytoma in about 20–50% of cases and with primary hyperparathyroidism in 5–20% of cases. MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with
120:) and itself has sub-types, as discussed below. Variants in MEN2A have been associated with Hirschsprung disease. Screening for this condition can begin as young as eight years old for
308:
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop.
761:
895:
232:
pattern, which means affected people have one affected parent, and possibly affected siblings and children. Some cases, however, result from spontaneous new mutations in the
349:
A variant of MEAs 2A was described in 1989. This variant also has patches of cutaneous amyloidosis in the mid/upper back and is inherited in an autosomal dominant fashion.
1265:
1260:
185:, and are specific for cells of neural crest origin. A database of MEN-implicated RET mutations is maintained by the University of Utah Department of Physiology.
545:
Wray CJ, Rich TA, Waguespack SG, Lee JE, Perrier ND, Evans DB (January 2008). "Failure to recognize multiple endocrine neoplasia 2B: more common than we think?".
88:(codons 630 and 634) and amyloid producing medullary thyroid carcinoma", "PTC syndrome," and "Sipple syndrome") is a group of medical disorders associated with
238:. These cases occur in people with no family history of the disorder. In MEN2B, for example, about half of all cases arise as spontaneous new mutations.
998:
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133:
1219:
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Prognosis of MEN2 is mainly related to the stage-dependant prognosis of MTC indicating the necessity of a complete thyroid surgery for
881:
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336:
327:
article compares the various MEN syndromes. MEN2 and MEN1 are distinct conditions, despite their similar names. MEN2 includes
1078:
925:
862:
116:), but may also occur in endocrine tissues of organs not classically thought of as endocrine. MEN2 is a sub-type of MEN (
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818:
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176:
117:
145:
137:
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332:
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article lists the genes involved in the various MEN syndromes. Most cases of MEN2 derive from a variation in the
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pheochromocytoma in 34% and pheochromocytoma alone in 6%. 72% had bilateral pheochromocytomas.
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The common feature among the three sub-types of MEN2 is a high propensity to develop
113:
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Jabbour SA, Davidovici BB, Wolf R (2006) Rare syndromes. Clin
Dermatol 24(4):299-316
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Bilateral pheochromocytomas associated with
Multiple endocrine neoplasia type 2
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MEN2 can present with a sign or symptom related to a tumor or, in the case of
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When inherited, multiple endocrine neoplasia type 2 is transmitted in an
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Most cases of multiple endocrine neoplasia type 2 are inherited in an
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with MTC and the early thyroidectomy for screened at risk subjects.
17:
140:(MTC) represents the most frequent initial diagnosis. Occasionally
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215:
419:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
673:
205:
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GeneReview/NIH/UW entry on
Multiple Endocrine Neoplasia Type 2
277:
MEN2B is additionally characterized by the presence of
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MEN2A is additionally characterized by the presence of
620:
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1182:
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1102:
1017:
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911:
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104:). They generally occur in endocrine organs (e.g.
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37:
32:
446:"Multiple endocrine neoplasia type 2: an overview"
208:lists the syndromes associated with the RET gene.
204:, result from loss-of-function variants. OMIM #
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8:
896:
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29:
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1266:Syndromes affecting the endocrine system
310:
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1261:Endocrine-related cutaneous conditions
521:"Multiple Endocrine Neoplasia Type 2"
7:
390:Multiple endocrine neoplasia type 2b
259:As noted, all types of MEN2 include
134:multiple endocrine neoplasia type 2b
742:Multiple Endocrine Neoplasia Type 2
385:Multiple endocrine neoplasia type 1
82:Multiple endocrine neoplasia type 2
281:, gastrointestinal symptoms (e.g.
25:
797:Autoimmune polyendocrine syndrome
337:familial medullary thyroid cancer
994:ACTH-secreting pituitary adenoma
611:MEN2 (RET) gene variant database
926:Pancreatic neuroendocrine tumor
192:plays an important role in the
159:and with mucosal and digestive
999:GH-secreting pituitary adenoma
148:may be the initial diagnosis.
1:
784:Disorders involving multiple
33:MEN type 2A (Sipple syndrome)
1256:Autosomal dominant disorders
819:Multiple endocrine neoplasia
463:10.1097/GIM.0b013e318216cc6d
380:Multiple endocrine neoplasia
325:multiple endocrine neoplasia
317:multiple endocrine neoplasia
315:Comparison of main types of
188:The protein produced by the
177:multiple endocrine neoplasia
118:multiple endocrine neoplasia
905:Tumours of endocrine glands
344:medullary thyroid carcinoma
265:medullary thyroid carcinoma
255:Differences in presentation
200:. Other diseases, such as
146:primary hyperparathyroidism
138:Medullary thyroid carcinoma
1282:
395:Multiple mucosal neuromata
251:for mutation in RET gene.
863:Woodhouse–Sakati syndrome
792:
559:10.1245/s10434-007-9665-4
421:Dermatology: 2-Volume Set
296:MEN2B can present with a
54:
45:
1122:Adrenocortical carcinoma
444:Moline J, Eng C (2011).
1079:Squamous-cell carcinoma
272:parathyroid hyperplasia
1117:Adrenocortical adenoma
320:
225:
509:. University of Utah.
314:
279:mucocutaneous neuroma
219:
1164:Parathyroid neoplasm
423:. St. Louis: Mosby.
202:Hirschsprung disease
96:. The tumors may be
1057:Parafollicular cell
814:Carcinoid syndrome
706:External resources
321:
291:muscular hypotonia
230:autosomal dominant
226:
222:autosomal dominant
182:RET proto-oncogene
128:Signs and symptoms
1238:
1237:
1004:Craniopharyngioma
985:Pituitary adenoma
921:Pancreatic cancer
871:
870:
751:
750:
430:978-1-4160-2999-1
175:The table in the
161:neurofibromatosis
157:marfanoid habitus
79:
78:
27:Medical condition
16:(Redirected from
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1251:Endocrine system
1134:Pheochromocytoma
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786:endocrine glands
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261:pheochromocytoma
152:Pheochromocytoma
142:pheochromocytoma
122:Pheochromocytoma
94:endocrine system
86:Pheochromocytoma
84:(also known as "
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588:37(3-4):147-150
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553:(1): 293–301.
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100:or malignant (
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1184:Pineal gland
1050:Hurthle cell
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989:Prolactinoma
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529:. Retrieved
527:. 2012-06-25
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283:constipation
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131:
81:
80:
1202:Pineocytoma
1156:Parathyroid
1009:Pituicytoma
935:Glucagonoma
737:GeneReviews
715:MedlinePlus
368:index cases
110:parathyroid
38:Other names
1245:Categories
1069:Anaplastic
1046:Follicular
962:Gastrinoma
944:Insulinoma
691:DiseasesDB
531:2018-01-15
525:Cancer.Net
450:Genet. Med
401:References
353:Management
287:flatulence
1192:Pinealoma
1174:Carcinoma
1062:Medullary
1041:Papillary
1036:carcinoma
977:Pituitary
856:Metageria
851:Acrogeria
726:eMedicine
362:Prognosis
300:habitus.
298:Marfanoid
242:Diagnosis
61:Specialty
1074:Lymphoma
913:Pancreas
841:Progeria
731:med/1520
567:17963006
480:22402472
472:21552134
374:See also
339:(FMTC).
235:RET gene
224:pattern.
212:Genetics
198:RET gene
194:TGF-beta
190:RET gene
114:adrenals
66:Oncology
1169:Adenoma
1129:Medulla
1083:Benign
1019:Thyroid
685:D018813
575:2564555
289:), and
106:thyroid
92:of the
1112:Cortex
967:VIPoma
720:000399
674:171400
663:258.02
573:
565:
478:
470:
427:
206:164761
171:Causes
112:, and
102:cancer
98:benign
90:tumors
68:
648:D44.8
571:S2CID
496:Metab
476:S2CID
333:MEN2B
329:MEN2A
807:APS2
802:APS1
696:7984
680:MeSH
669:OMIM
658:9-CM
563:PMID
468:PMID
425:ISBN
335:and
285:and
263:and
41:MEN2
18:MEN2
1212:MEN
654:ICD
639:ICD
555:doi
458:doi
144:or
1247::
1230:2B
1225:2A
987::
960::
951::
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933::
834:2B
829:2A
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777:e
770:t
763:v
656:-
641:-
631:D
577:.
557::
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460::
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319:.
20:)
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