Literature DB >> 27617149

Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes.

M Cristina Pacheco1.   

Abstract

Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in RET, and MEN4 is caused by mutations in CDKNB1. All are inherited in an autosomal dominant pattern, but de novo cases do arise. While all subtypes are associated with neuroendocrine tumors, each has characteristic organ involvement. Identifying patients with the syndrome can aid in proper screening and treatment.

Entities:  

Keywords:  MEN1; MEN2; MEN4; familial cancer syndrome; multiple endocrine neoplasia; neuroendocrine tumors

Year:  2016        PMID: 27617149      PMCID: PMC4918697          DOI: 10.1055/s-0036-1579758

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  64 in total

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Authors:  Terry C Lairmore; Cara M Govednik; Courtney E Quinn; Benjamin R Sigmond; Cortney Y Lee; Daniel C Jupiter
Journal:  Surgery       Date:  2014-09-26       Impact factor: 3.982

2.  Activation of a novel human transforming gene, ret, by DNA rearrangement.

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Journal:  Cell       Date:  1985-09       Impact factor: 41.582

Review 3.  Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Authors:  Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack
Journal:  Thyroid       Date:  2015-06       Impact factor: 6.568

4.  Differences between sporadic and multiple endocrine neoplasia type 2A phaeochromocytoma.

Authors:  F J Pomares; R Cañas; J M Rodriguez; A M Hernandez; P Parrilla; F J Tebar
Journal:  Clin Endocrinol (Oxf)       Date:  1998-02       Impact factor: 3.478

5.  Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.

Authors:  Donatella Malanga; Silvia De Gisi; Miriam Riccardi; Marianna Scrima; Carmela De Marco; Mercedes Robledo; Giuseppe Viglietto
Journal:  Eur J Endocrinol       Date:  2011-11-30       Impact factor: 6.664

6.  MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d'étude des Tumeurs Endocrines.

Authors:  P Goudet; A Dalac; M Le Bras; C Cardot-Bauters; P Niccoli; N Lévy-Bohbot; H du Boullay; X Bertagna; P Ruszniewski; F Borson-Chazot; B Vergès; J L Sadoul; F Ménégaux; A Tabarin; J M Kühn; P d'Anella; O Chabre; S Christin-Maitre; G Cadiot; C Binquet; B Delemer
Journal:  J Clin Endocrinol Metab       Date:  2015-01-16       Impact factor: 5.958

7.  RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.

Authors:  Rossella Elisei; Cristina Romei; Barbara Cosci; Laura Agate; Valeria Bottici; Eleonora Molinaro; Mariangela Sculli; Paolo Miccoli; Fulvio Basolo; Lucia Grasso; Furio Pacini; Aldo Pinchera
Journal:  J Clin Endocrinol Metab       Date:  2007-09-25       Impact factor: 5.958

8.  Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage.

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Journal:  Nature       Date:  1987 Aug 6-12       Impact factor: 49.962

9.  Primary lymph node gastrinoma or occult duodenal microgastrinoma with lymph node metastases in a MEN1 patient: the need for a systematic search for the primary tumor.

Authors:  Martin Anlauf; Tetsuji Enosawa; Tobias Henopp; Anja Schmitt; Oliver Gimm; Michael Brauckhoff; Henning Dralle; Anette Musil; Steffen Hauptmann; Aurel Perren; Günter Klöppel
Journal:  Am J Surg Pathol       Date:  2008-07       Impact factor: 6.394

10.  Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.

Authors:  Demet Etit; William C Faquin; Randall Gaz; Gregory Randolph; Ronald A DeLellis; Ben Z Pilch
Journal:  Arch Pathol Lab Med       Date:  2008-11       Impact factor: 5.534

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  10 in total

1.  Multiple Oral Mucosal Hamartomas in a 34-Year Old Female.

Authors:  Jeffrey A Elo; Ho-Hyun Sun; Joel M Laudenbach; Hardev M Singh
Journal:  Head Neck Pathol       Date:  2017-01-10

2.  Identification of diverse target RNAs that are functionally regulated by human Pumilio proteins.

Authors:  Jennifer A Bohn; Jamie L Van Etten; Trista L Schagat; Brittany M Bowman; Richard C McEachin; Peter L Freddolino; Aaron C Goldstrohm
Journal:  Nucleic Acids Res       Date:  2018-01-09       Impact factor: 16.971

3.  Patients' perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group.

Authors:  Karl Philipp Drewitz; Jo Grey; Petra Brügmann; Josef Pichl; Martina Sammarco; Monique Aarts; Dirk van Genechten; Maria-Luisa Brandi; Ludwig Schaaf
Journal:  Endocrine       Date:  2021-02-03       Impact factor: 3.633

4.  Case of Recurrent Primary Hyperparathyroidism, Congenital Granular Cell Tumor, and Aggressive Colorectal Cancer.

Authors:  Samina Afreen; Lee S Weinstein; William F Simonds; Smita Jha
Journal:  J Endocr Soc       Date:  2022-06-24

5.  Multiple endocrine neoplasia-like syndrome in 24 baboons (Papio spp.).

Authors:  Alexandra Confer; Michael A Owston; Shyamesh Kumar; Edward J Dick
Journal:  J Med Primatol       Date:  2018-09-06       Impact factor: 0.667

Review 6.  Parathyroid Pathology.

Authors:  Julie Guilmette; Peter M Sadow
Journal:  Surg Pathol Clin       Date:  2019-09-27

Review 7.  Inherited lung cancer syndromes targeting never smokers.

Authors:  Hiromasa Yamamoto; Yasushi Yatabe; Shinichi Toyooka
Journal:  Transl Lung Cancer Res       Date:  2018-08

8.  Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Authors:  Samuel Guan Wei Ow; Pei Yi Ong; Soo-Chin Lee
Journal:  PLoS One       Date:  2019-03-15       Impact factor: 3.240

9.  Cryo-EM structure of the activated RET signaling complex reveals the importance of its cysteine-rich domain.

Authors:  Janna M Bigalke; Shintaro Aibara; Robert Roth; Göran Dahl; Euan Gordon; Sarah Dorbéus; A Amunts; Jenny Sandmark
Journal:  Sci Adv       Date:  2019-07-31       Impact factor: 14.136

10.  Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.

Authors:  Minghao Li; Cikui Wang; Peihua Liu; Lin Qi; Xiang Chen; Benyi Fan; Xiangyang Zhang; Bo Zhang; Qiao Xiao; Anze Yu; Longfei Liu
Journal:  Transl Androl Urol       Date:  2020-04
  10 in total

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