Literature DB >> 30314660

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.

Angeliki Makri1, Srivandana Akshintala2, Claudia Derse-Anthony3, Brigitte Widemann4, Constantine A Stratakis5, John Glod4, Maya Lodish5.   

Abstract

We describe the presenting symptoms and signs of multiple endocrine neoplasia type 2B in a cohort of children. Improved awareness of the early nonendocrine signs of multiple endocrine neoplasia type 2B could lead to earlier diagnosis before the development of medullary thyroid cancer and possibly its metastasis.
Copyright © 2018. Published by Elsevier Inc.

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Year:  2018        PMID： 30314660      PMCID： PMC6707507          DOI： 10.1016/j.jpeds.2018.08.022

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

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Authors:  Frederic Castinetti; Jeffrey Moley; Lois Mulligan; Steven G Waguespack
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Review 2.  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

3.  Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis.

Authors:  Michael Brauckhoff; Andreas Machens; Sören Hess; Kerstin Lorenz; Oliver Gimm; Katrin Brauckhoff; Carsten Sekulla; Henning Dralle
Journal:  Surgery       Date:  2008-12       Impact factor: 3.982

4.  Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.

Authors:  O Gimm; D J Marsh; S D Andrew; A Frilling; P L Dahia; L M Mulligan; J D Zajac; B G Robinson; C Eng
Journal:  J Clin Endocrinol Metab       Date:  1997-11       Impact factor: 5.958

5.  A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

Authors:  R M Hofstra; R M Landsvater; I Ceccherini; R P Stulp; T Stelwagen; Y Luo; B Pasini; J W Höppener; H K van Amstel; G Romeo
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962

6.  Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

Authors:  K M Carlson; S Dou; D Chi; N Scavarda; K Toshima; C E Jackson; S A Wells; P J Goodfellow; H Donis-Keller
Journal:  Proc Natl Acad Sci U S A       Date:  1994-02-15       Impact factor: 11.205

7.  Surgical curability of medullary thyroid cancer in multiple endocrine neoplasia 2B: a changing perspective.

Authors:  Michael Brauckhoff; Andreas Machens; Kerstin Lorenz; Trine Bjøro; Jan Erik Varhaug; Henning Dralle
Journal:  Ann Surg       Date:  2014-04       Impact factor: 12.969

8.  Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

Authors:  Ira L Kraft; Srivandana Akshintala; John W Glod; Jack F Shern; Brigitte C Widemann; Yuelin Zhu; Haiyan Lei; Claudia Derse-Anthony; Eva Dombi; Seth M Steinberg; Maya Lodish; Steven G Waguespack; Oxana Kapustina; Elizabeth Fox; Frank M Balis; Maria J Merino; Paul S Meltzer
Journal:  Clin Cancer Res       Date:  2017-11-29       Impact factor: 12.531
  8 in total
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2.  Exome sequencing for structurally normal fetuses-yields and ethical issues.

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Journal:  Eur J Hum Genet       Date:  2022-09-07       Impact factor: 5.351

3.  Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.

Authors:  Medard F M van den Broek; Ester B G Rijks; Peter G J Nikkels; Victorien M Wolters; Robert J J van Es; Hanneke M van Santen; Bernadette P M van Nesselrooij; Menno R Vriens; Rachel S van Leeuwaarde; Gerlof D Valk; Annemarie A Verrijn Stuart
Journal:  Endocrine       Date:  2021-01-21       Impact factor: 3.633

4.  Thyroid Paraganglioma With Medullary Carcinoma: A Unique Combination in a Patient in Association With Multiple Endocrine Neoplasia Type 2B Syndrome With Prolonged Survival.

Authors:  Eleni Thodou; Theodossia Choreftaki; Theodora Kounadi; Labrini Papanastasiou; George Kontogeorgos
Journal:  Cureus       Date:  2022-08-26

Review 5.  Review of Pediatric Head and Neck Neoplasms that Raise the Possibility of a Cancer Predisposition Syndrome.

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  5 in total

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