Multiple endocrine neoplasia type 2 causes: Difference between revisions

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**The [[protein]] produced by the ''RET'' [[proto-oncogene]] gene normally plays an important role in signaling cells to respond to their environment, for example by [[cell division|dividing]] or maturing. Mutations in this [[gene]] cause an overactivation of the [[protein]]'s signaling function, which can lead to an overgrowth of [[cell]]s and the formation of [[tumor]]s characteristic of multiple endocrine neoplasia type 2.
**The [[protein]] produced by the ''RET'' [[proto-oncogene]] gene normally plays an important role in signaling cells to respond to their environment, for example by [[cell division|dividing]] or maturing. Mutations in this [[gene]] cause an overactivation of the [[protein]]'s signaling function, which can lead to an overgrowth of [[cell]]s and the formation of [[tumor]]s characteristic of multiple endocrine neoplasia type 2.
**MEN2A [[Patient|patients]] with [[cutaneous]] [[lichen]] [[amyloidosis]] have mutation in codon 634.<ref name="QiPeng2018">{{cite journal|last1=Qi|first1=Xiao-Ping|last2=Peng|first2=Jian-Zhong|last3=Yang|first3=Xiao-Wei|last4=Cao|first4=Zhi-Lie|last5=Yu|first5=Xiu-Hua|last6=Fang|first6=Xu-Dong|last7=Zhang|first7=Da-Hong|last8=Zhao|first8=Jian-Qiang|title=The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis|journal=Endocrine Connections|volume=7|issue=9|year=2018|pages=998–1005|issn=2049-3614|doi=10.1530/EC-18-0220}}</ref>
**MEN2A [[Patient|patients]] with [[cutaneous]] [[lichen]] [[amyloidosis]] have mutation in codon 634.<ref name="QiPeng2018">{{cite journal|last1=Qi|first1=Xiao-Ping|last2=Peng|first2=Jian-Zhong|last3=Yang|first3=Xiao-Wei|last4=Cao|first4=Zhi-Lie|last5=Yu|first5=Xiu-Hua|last6=Fang|first6=Xu-Dong|last7=Zhang|first7=Da-Hong|last8=Zhao|first8=Jian-Qiang|title=The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis|journal=Endocrine Connections|volume=7|issue=9|year=2018|pages=998–1005|issn=2049-3614|doi=10.1530/EC-18-0220}}</ref>
**Patients with MEN2A and Hirschsprung disease observed mutations involving ''RET'' exon 10.<ref name="MooreZaahl2012">{{cite journal|last1=Moore|first1=SW|last2=Zaahl|first2=M|title=The Hirschsprung's–multiple endocrine neoplasia connection|journal=Clinics|volume=67|issue=S1|year=2012|pages=63–67|issn=18075932|doi=10.6061/clinics/2012(Sup01)12}}</ref>


==References==
==References==

Latest revision as of 20:53, 6 July 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Multiple endocrine neoplasia type 2 is caused by a mutation in the RET gene.

Causes

  • Mutations in the RET proto-oncogene cause multiple endocrine neoplasia type 2.[1]
    • The protein produced by the RET proto-oncogene gene normally plays an important role in signaling cells to respond to their environment, for example by dividing or maturing. Mutations in this gene cause an overactivation of the protein's signaling function, which can lead to an overgrowth of cells and the formation of tumors characteristic of multiple endocrine neoplasia type 2.
    • MEN2A patients with cutaneous lichen amyloidosis have mutation in codon 634.[2]
    • Patients with MEN2A and Hirschsprung disease observed mutations involving RET exon 10.[3]

References

  1. Marquard, Jessica; Eng, Charis (September 27, 1999). "Multiple Endocrine Neoplasia Type 2". GeneReviews® [Internet].
  2. Qi, Xiao-Ping; Peng, Jian-Zhong; Yang, Xiao-Wei; Cao, Zhi-Lie; Yu, Xiu-Hua; Fang, Xu-Dong; Zhang, Da-Hong; Zhao, Jian-Qiang (2018). "The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis". Endocrine Connections. 7 (9): 998–1005. doi:10.1530/EC-18-0220. ISSN 2049-3614.
  3. Moore, SW; Zaahl, M (2012). "The Hirschsprung's–multiple endocrine neoplasia connection". Clinics. 67 (S1): 63–67. doi:10.6061/clinics/2012(Sup01)12. ISSN 1807-5932.

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