Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation

Thyroid ◽  
2017 ◽  
Vol 27 (10) ◽  
pp. 1332-1334
Author(s):  
Naykky Singh Ospina ◽  
Spyridoula Maraka ◽  
Diane Donegan ◽  
John C. Morris
Keyword(s):  
Clinical Features ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Ret Mutation ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Utility of RET Mutation Analysis in Multiple Endocrine Neoplasia Type 2

1999 ◽  
Vol 123 (11) ◽  
pp. 1047-1049 ◽  
Author(s):  
Walter W. Noll
Keyword(s):  
Mutation Analysis ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Specific Test ◽  
Ret Mutation ◽  
Men 2 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
The Individual

Abstract Objective.—To review the role of RET mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) and in presymptomatic screening for this disorder. Data Sources.—Review of the medical literature and current clinical practice. Conclusions.—RET mutation analysis is a sensitive and specific test for MEN 2. It plays a pivotal role in the diagnosis and management of patients and families with MEN 2 and in the individual who presents with an apparently sporadic medullary thyroid carcinoma or pheochromocytoma. These disorders may first come to the attention of either the anatomic or clinical pathologist, who has the opportunity to see that appropriate testing is done. As with any familial disease, professional genetic counseling is an important part of the care of these patients.

A complex case of Multiple Endocrine Neoplasia type 1 with Metastatic Parathyroid Carcinoma

Open Medicine ◽  
2010 ◽  
Vol 5 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Shyam Kalavalapalli ◽  
Indrajit Talapatra ◽  
Ian Connell
Keyword(s):  
Clinical Features ◽  
Parathyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Somatostatin Analogues ◽  
Complex Case ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Gut Hormone

AbstractWe describe below a patient with Multiple Endocrine Neoplasia type 1 (MEN type 1) who presented with features of Primary Hyperparathyroidism. However, the actual diagnosis of Parathyroid Carcinoma was delayed until metastases to the lung were discovered. She was also found to have Pituitary Macro adenoma with Silent Acromegaly, with no clinical features whatsoever. She underwent transphenoidal hypophysectomy with postoperative radiotherapy. However, the disease process remained biochemically active necessitating commencement of somatostatin analogues. There is also a tumour at the head of the pancreas which at present is non functional with normal gut hormone profile and normal 24 hour urinary 5-hydroxyl indole acetic acid (5-HIAA) excretion assay. Our case highlights the pitfalls in diagnosing the parathyroid carcinoma due to lack of initial proper histological features. The diagnosis of parathyroid carcinoma was based on histologically confirmed metastases to the lungs. We also discuss below the entity called Silent Acromegaly where patients have biochemically and/or histologically confirmed growth Hormone (GH) excess with no clinical features suggesting Acromegaly. We discuss the benefits of somatostatin analogues in indirectly controlling the rest of the tumours in MEN1 and hypothesise the same for metastatic parathyroid carcinoma. Metastatic parathyroid carcinoma with multiple endocrine neoplasia type 1 is extremely rare. Our case highlights the complexities of managing MEN1 with metastatic parathyroid carcinoma and the dilemmas in dealing with the various aspects of the care.

scholarly journals Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of the database of the MEN Consortium of Japan

2012 ◽  
Vol 59 (10) ◽  
pp. 859-866 ◽  
Author(s):  
Akihiro Sakurai ◽  
Masanori Yamazaki ◽  
Shinichi Suzuki ◽  
Toshihiko Fukushima ◽  
Tsuneo Imai ◽  
...  
Keyword(s):  
Clinical Features ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians

2008 ◽  
Vol 52 (8) ◽  
pp. 1393-1398 ◽  
Author(s):  
Cleber P. Camacho ◽  
Ana O. Hoff ◽  
Susan C. Lindsey ◽  
Priscila S. Signorini ◽  
Flávia O. F. Valente ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Late Diagnosis ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
History Of

BACKGROUND: The hereditary form of medullary thyroid carcinoma may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician. In the infant none of the MEN2B characteristics are present, except by early gastrointestinal dysfunction caused by intestinal neuromas. When available, genetic analysis confirms the diagnosis and guides pre-operative evaluation and extent of surgery. Here we report four cases of MEN2B in which the late diagnosis had a significant impact in clinical evolution and, potentially, in overall survival. CASE REPORT: We report four cases, 2 men and 2 women, with differences in their phenotypes and with a late diagnosis. The first case has a history of severe gastrointestinal obstruction requiring a surgery intervention two days after his birth. The second told had nodules in the oral mucosa and constipation since childhood. The third case referred a history of constipation from birth until 5 months of life. The fourth has had a history of chronic constipation since childhood. DISCUSSION: New concepts have emerged since the RET oncogene was identified in 1993 as the responsible gene for hereditary medullary thyroid carcinoma. The majority of MEN2B individuals have M918T mutation in the exon 16 of RET, with a few cases having a mutation A883F or the association of V804M with E805K, Y806C or S904C mutations. The consensus classifies the RET mutation in codon 918 as of highest risk and recommends total thyroidectomy and central lymph node dissection until 6 months after birth. A fast and precise diagnosis is essential to reach these goals. The identification of early manifestations such as intestinal ganglioneuromatosis and oral mucosal neuromas should prompt the physician to initiate an investigation for multiple endocrine neoplasia type 2B. CONCLUSION: The diagnosis of MEN2B is very important to allow appropriate investigation of associated diseases and to allow counseling and appropriate screening of relatives for a RET mutation. Even patients with MEN2B, which often have typical physical features, may not be properly recognized and be followed as a sporadic case. Based on this, all suspicious cases of multiple endocrine neoplasia should undergo a molecular genetic test.

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