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

scholarly journals Primary Hyperparathyroidism Focused on Molecular Pathogenesis

2014 ◽  
Vol 10 (2) ◽  
pp. 153
Author(s):  
José Manuel Gómez Sáez ◽  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Chromosome 1 ◽  
Endocrine Neoplasia ◽  
Parathyroid Adenomas ◽  
Multiple Endocrine Neoplasia 2A ◽  
Parathyroid Disease

Primary hyperparathyroidism (PHPT) is a common cause of hypercalcaemia. The most common lesion found in patients is the solitary benign parathyroid adenoma. Multiple parathyroid adenomas have also been reported. Parathyroid carcinomas are an uncommon cause of PHPT. In 15% of patients, all four parathyroid glands are involved and it may be associated with a familial hereditary syndrome, such as multiple endocrine neoplasia, types 1, 2A and 4. PHPT jaw tumour syndrome is associated with fibromas in the mandible and tumours can also be present in the kidneys and the uterus. No predisposing germline DNA variants in parathyroid adenomas have been demonstrated and only a few clonally altered genes that drive parathyroid tumorigenesis have been identified. Frequently parathyroid adenomas haveHRPT2gene mutations that are likely to be of pathogenetic importance. Mutations in theMEN1gene (localised to 11q13) are responsible for multiple endocrine neoplasia 1. Multiple endocrine neoplasia 2A, which can be associated with medullary thyroid cancer, is due to a germline mutation of theRETproto-oncogene located on chromosome 10. In MEN1-like negative patients some of the germline mutations in this new susceptibility gene were due to gene CDKN1B (12p13). This new syndrome was classified as multiple endocrine neoplasia 4. In PHPT jaw tumour syndrome,HRPT2, the gene on the long arm of chromosome 1, is responsible for the syndrome. It is suggested to perform genetic testing in patients with PHPT below the age of 30 years, but at any age in patients presenting with multigland 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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