PMID- 21358189
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20211203
IS  - 0065-3071 (Print)
IS  - 0065-3071 (Linking)
VI  - 70
DP  - 2011
TI  - Multiple endocrine neoplasia: types 1 and 2.
PG  - 84-90
LID - 10.1159/000322479 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN 1) and type 2 (MEN 2) are 
      autosomal-dominantly inherited syndromes where highly penetrant germline 
      mutations predispose patients to the development of tumours in hormone-secreting 
      cells. In the case of MEN 1, loss-of-function germline mutations in the tumour 
      suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and 
      pancreatic islet tumours, and less commonly thymic carcinoids, lipomas and benign 
      adrenocortical tumours. In the case of MEN 2, gain-of-function germline mutations 
      clustered in specific codons of the RET proto-oncogene increase the risk of 
      developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid 
      tumours. Offering RET testing is best practice for the clinical management of 
      patients at-risk of MEN 2, and MEN 2 has become a classic model for the 
      integration of molecular medicine into patient care. Prophylactic thyroidectomy 
      in an asymptomatic RET mutation carrier to address the risk of developing MTC can 
      prevent or cure this malignancy. No similar preventative strategies can be 
      employed to prevent or cure MEN 1-associated tumours. Genetic testing for MEN 1 
      is therefore both more complex due to a general lack of mutational hotspots, and 
      the benefit to patients is less straight forward. While a number of 
      genotype-phenotype correlations exist in MEN 2, providing further rationale for 
      performing genetic testing in this condition, these correlations are absent in 
      MEN 1. This review summarises our current knowledge of these two syndromes with 
      emphasis on those aspects with specific relevance to the otorhinolaryngologist.
CI  - Copyright (c) 2011 S. Karger AG, Basel.
FAU - Marsh, Deborah J
AU  - Marsh DJ
FAU - Gimm, Oliver
AU  - Gimm O
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20110224
PL  - Switzerland
TA  - Adv Otorhinolaryngol
JT  - Advances in oto-rhino-laryngology
JID - 0242534
RN  - 0 (Codon)
RN  - 0 (MAS1 protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (RET protein, human)
SB  - IM
MH  - Codon
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Germ-Line Mutation
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology/therapy
MH  - Multiple Endocrine Neoplasia Type 2a/*genetics/pathology/therapy
MH  - Neoplasms/*genetics
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins/genetics
MH  - Proto-Oncogene Proteins c-ret/genetics
MH  - Thyroid Neoplasms/genetics/surgery
EDAT- 2011/03/02 06:00
MHDA- 2011/06/01 06:00
CRDT- 2011/03/02 06:00
PHST- 2011/03/02 06:00 [entrez]
PHST- 2011/03/02 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
AID - 000322479 [pii]
AID - 10.1159/000322479 [doi]
PST - ppublish
SO  - Adv Otorhinolaryngol. 2011;70:84-90. doi: 10.1159/000322479. Epub 2011 Feb 24.