Faculty Opinions recommendation of Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

2008 ◽  
Author(s):  
Gilbert Cote
Keyword(s):  
Cell Membrane ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A ◽  
Exon 10

scholarly journals Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10

2009 ◽  
Vol 16 (1) ◽  
pp. 171-177 ◽  
Author(s):  
Andreas Machens ◽  
Steffen Hauptmann ◽  
Henning Dralle
Keyword(s):  
Lymph Node ◽  
Lymph Node Metastasis ◽  
Multiple Endocrine Neoplasia ◽  
Germ Line ◽  
Node Metastasis ◽  
Endocrine Neoplasia ◽  
Germ Line Mutations ◽  
Multiple Endocrine Neoplasia 2A ◽  
Exon 11 ◽  
Exon 10

Rearranged during transfection (RET) germ-line mutations in exon 10 are peculiar because they produce both gain-of-function multiple endocrine neoplasia 2A and loss-of-function Hirschsprung's disease phenotypes. Drawing on 38 medullary thyroid cancer patients harboring germ-line mutations in codon 620 (n=8), 618 (n=19), 611 (n=10), and 609 (n=1), this study aimed to test the hypothesis that closer proximity of RET germ-line mutations in exon 10 to the cell membrane may translate into earlier or more advanced disease. The closer mutations in codon 620, 618, and 611 were located to the transmembrane domain (codons 657–636) of the RET receptor, the greater were mean primary tumor diameters (23.5, 18.7, and 7.5 mm, P=0.020), the frequency of lymph node metastasis (75, 68, and 30%, P=0.11) and pheochromocytoma (38, 16, and 0%, P=0.11). Periods of observation were broadly comparable for these groups (mean age 33.4–39.3 years; P=0.71). When mutations in adjoining codons were collapsed (codons 620/618 vs 611/609), the differences in mean primary tumor diameter (20.1 vs 7.4 mm, P=0.005) and lymph node metastasis (70 vs 36%; P=0.07) were accentuated. Compared with 80 carriers of exon 11 mutations (codon 634, n=78; codon 630, n=2), the 38 carriers of exon 10 mutations, which are rarer and confer a weaker transforming activity in vitro than exon 11 mutations, required significantly more time to develop fewer tumors. Although limited in numbers, these data suggested that membrane proximity is an important determinant of tumor development in carriers of RET mutations in exon 10.

scholarly journals First Description of Parathyroid Disease in Multiple Endocrine Neoplasia 2A Syndrome

2008 ◽  
Vol 19 (4) ◽  
pp. 289-293 ◽  
Author(s):  
James C. Sisson ◽  
Thomas J. Giordano ◽  
Victoria M. Raymond ◽  
Gerard M. Doherty ◽  
Stephen B. Gruber
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A ◽  
Parathyroid Disease

Multiple endocrine neoplasia-2A-revisited

2015 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Rashmi Patnayak ◽  
Vaikkakara Suresh ◽  
Alok Sachan ◽  
Bodagala Vijaylaxmi ◽  
Banoth Manilal ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A

scholarly journals Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation

2019 ◽  
Vol 12 (8) ◽  
pp. e229904
Author(s):  
Olivia R Wood ◽  
Tobias Else ◽  
Matthew G Sampson
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Multicystic Dysplastic Kidney ◽  
Pathogenic Variants ◽  
Endocrine Neoplasia ◽  
Dysplastic Kidney ◽  
Multiple Endocrine Neoplasia 2A ◽  
Unique Association

Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, RET variants have never been reported to cause MEN2A and CAKUT together. This child’s family history prompted RET sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of RET (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.

RET Proto-Oncogene Mutations Are Restricted to Codon 634 and 618 in Korean Families with Multiple Endocrine Neoplasia 2A

Thyroid ◽  
2004 ◽  
Vol 14 (10) ◽  
pp. 813-818 ◽  
Author(s):  
Yun Jae Chung ◽  
Hyung-Hoon Kim ◽  
Hyun-Jin Kim ◽  
Yong-Ki Min ◽  
Myung-Shik Lee ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Korean Families ◽  
Multiple Endocrine Neoplasia 2A

Composite Pheochromocytoma/Ganglioneuroma of the Adrenal Gland Associated with Multiple Endocrine Neoplasia 2A

1997 ◽  
Vol 21 (1) ◽  
pp. 102-108 ◽  
Author(s):  
Stephen Brady ◽  
Ronald M. Lechan ◽  
S. D. Schwaitzberg ◽  
Yogeshwar Dayal ◽  
Jeffrey Ziar ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A ◽  
Composite Pheochromocytoma

Abstract #417 Adrenal Adenoma Masking Multiple Endocrine Neoplasia 2A

2019 ◽  
Vol 25 ◽  
pp. 197
Author(s):  
Daise Vieira ◽  
Arelys Ramos ◽  
Suzanne Martinez ◽  
Sondra O’Callaghan
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Adrenal Adenoma ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A

Disseminated Medullary Thyroid Carcinoma Despite Early Thyroid Surgery in the Multiple Endocrine Neoplasia-2A Syndrome

Thyroid ◽  
2005 ◽  
Vol 15 (5) ◽  
pp. 485-488 ◽  
Author(s):  
H.M. van Santen ◽  
D.C. Aronson ◽  
A.S.P. van Trotsenburg ◽  
F.J.W. ten Kate ◽  
M.D. van de Wetering ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Thyroid Surgery ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A

scholarly journals Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study

2018 ◽  
Vol Volume 10 ◽  
pp. 1479-1487 ◽  
Author(s):  
Jes Sloth Mathiesen ◽  
Jens Peter Kroustrup ◽  
P Vestergaard ◽  
Kirstine Stochholm ◽  
Per Løgstrup Poulsen ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Nationwide Study ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A
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