scholarly journals A Family of Multiple Endocrine Neoplasia Type 2A (MEN 2A) with Cys630Tyr RET Germline Mutation: Report of a Case

2007 ◽  
Vol 54 (4) ◽  
pp. 531-535 ◽  
Author(s):  
Hiroyuki YONEKAWA ◽  
Iwao SUGITANI ◽  
Yoshihide FUJIMOTO ◽  
Masami ARAI ◽  
Noriko YAMAMOTO
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Men 2A

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 A Germline Mutation, 1001delC, of the Multiple Endocrine Neoplasia Type 1 (MEN 1) Gene in a Japanese Family.

2001 ◽  
Vol 40 (6) ◽  
pp. 499-505 ◽  
Author(s):  
Seiki WADA ◽  
Masaki WATANABE ◽  
Toshihiko TSUKADA ◽  
Shigemitsu YASUDA ◽  
Ken YAMAGUCHI ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Japanese Family ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals A Novel Germline Mutation of Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in a Japanese MEN1 Patient and Her Daughter.

1999 ◽  
Vol 46 (2) ◽  
pp. 325-329 ◽  
Author(s):  
HIDEMI OHYE ◽  
MAKOTO SATO ◽  
SHUJI MATSUBARA ◽  
AKIRA MIYAUCHI ◽  
KEIKO KISHI-IMAI ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

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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