scholarly journals Multiple endocrine neoplasia 2A (MEN 2A) syndrome

2018 ◽  
Vol 119 (02) ◽  
pp. 120-125
Author(s):  
J. Breza ◽  
J. Breza
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia 2A ◽  
Men 2A

scholarly journals Multiple Endocrine Neoplasia 2a Presenting with Pheochromocytoma and Pituitary Macroadenoma

ISRN Oncology ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Jonathan E. Heinlen ◽  
David D. Buethe ◽  
Daniel J. Culkin ◽  
Gennady Slobodov
Keyword(s):  
Pituitary Adenoma ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Multiple Endocrine Neoplasia Type ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Endocrine Organs ◽  
Multiple Endocrine Neoplasia 2A ◽  
Asymptomatic Pheochromocytoma ◽  
Men 2A

Multiple Endocrine Neoplasia type 2A (MEN-2a) is a rare disease associated with tumors of endocrine organs. Presentation most commonly is with medullary thyroid cancer and infrequently with other complaints. Pituitary adenoma has been seen coincidentally with this disease very rarely. Presented is a case of coincident MEN-2a with a symptomatic pituitary adenoma and an asymptomatic pheochromocytoma. A brief review is also provided.

scholarly journals Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634)

2014 ◽  
Vol 142 (1-2) ◽  
pp. 72-74 ◽  
Author(s):  
Maja Jesic ◽  
Milina Tancic-Gajic ◽  
Milos Jesic ◽  
Vladan Zivaljevic ◽  
Silvija Sajic ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Prophylactic Thyroidectomy ◽  
Urinary Catecholamines ◽  
Serum Calcitonin ◽  
Long Term Outcome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Men 2A

Introduction. The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. Case Outline. This is a case report of 3-year-old boy from the MEN 2A family (the boy?s father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is <2 pg/ml (normal <13 pg/ml), has normal serum calcium and parathyroid hormone levels and negative urinary catecholamines. Long-term follow-up of this patient is required to determine whether very early thyroidectomy improves the long-term outcome of PHPT. Conclusion. Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.

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.

scholarly journals Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations.

1995 ◽  
Vol 15 (3) ◽  
pp. 1613-1619 ◽  
Author(s):  
N Asai ◽  
T Iwashita ◽  
M Matsuyama ◽  
M Takahashi
Keyword(s):  
Cell Surface ◽  
Multiple Endocrine Neoplasia ◽  
Simian Virus 40 ◽  
Simian Virus ◽  
3T3 Cells ◽  
Endocrine Neoplasia ◽  
Transforming Activity ◽  
Nih 3T3 ◽  
Men 2A ◽  
Nih 3T3 Cells

Transforming activity of the c-ret proto-oncogene with multiple endocrine neoplasia (MEN) 2A mutations was investigated by transfection of NIH 3T3 cells. Mutant c-ret genes driven by the simian virus 40 or cytomegalovirus promoter induced transformation with high efficiencies. The 170-kDa Ret protein present on the cell surface of transformed cells was highly phosphorylated on tyrosine and formed disulfide-linked homodimers. This result indicated that MEN 2A mutations induced ligand-independent dimerization of the c-Ret protein on the cell surface, leading to activation of its intrinsic tyrosine kinase. In addition to the MEN 2A mutations, we further introduced a mutation (lysine for asparaginic acid at codon 300 [D300K]) in a putative Ca(2+)-binding site of the cadherin-like domain. When c-ret cDNA with both MEN 2A and D300K mutations was transfected into NIH 3T3 cells, transforming activity drastically decreased. Western blot (immunoblot) analysis revealed that very little of the 170-kDa Ret protein with the D300K mutation was expressed in transfectants while expression of the 150-kDa Ret protein retained in the endoplasmic reticulum was not affected. This result also demonstrated that transport of the Ret protein to the plasma membrane is required for its transforming activity.

scholarly journals A Novel Case of Multiple Endocrine Neoplasia Type 2A Associated with Two de Novo Mutations of the RETProtooncogene*

1999 ◽  
Vol 84 (10) ◽  
pp. 3522-3527 ◽  
Author(s):  
Alessandra Tessitore ◽  
Antonio A. Sinisi ◽  
Daniela Pasquali ◽  
Monica Cardone ◽  
Domenico Vitale ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
De Novo ◽  
Multiple Endocrine Neoplasia Type ◽  
Pcr Analysis ◽  
De Novo Mutations ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
A Cell ◽  
Glycine Substitution ◽  
Men 2A

Abstract We report a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET. One affects codon 634 and causes a cysteine to arginine substitution; the second at codon 640 causes an alanine to glycine substitution in the transmembrane region. The two mutations were present on the same RET allele and were detected in germline and tumor DNA. Both mutations were de novo, i.e. they were not found in the DNA of the parents or relatives. Immunohistochemical and RT-PCR analysis showed that the pheochromocytoma expressed calcitonin as well as both RET alleles. A cell line established from the tumor and propagated in culture sustained the expression of RET and calcitonin, as did the original pheochromocytoma. Because the patient presented with medullary thyroid carcinoma and pheochromocytoma without parathyroid gland involvement, we speculate that this clinical picture could be correlated with the two RET mutations and to the unusual calcitonin production. This is the first report of a MEN 2A case due to two mutations of the RET gene and associated with a calcitonin-producing pheochromocytoma.

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