scholarly journals Prophylactic Surgery for Multiple Endocrine Neoplasia Type IIa after Genetic Diagnosis: Is Parathyroid Transplantation Indicated?

1996 ◽  
Vol 20 (7) ◽  
pp. 814-821 ◽  
Author(s):  
Ruth A. Decker ◽  
James D. Geiger ◽  
Charles E. Cox ◽  
Marilyn Mackovjak ◽  
Minakshi Sarkar ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Prophylactic Surgery ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Parathyroid Transplantation

scholarly journals Multiple Endocrine Neoplasia Type 1: Latest Insights

2020 ◽  
Author(s):  
Maria Luisa Brandi ◽  
Sunita K Agarwal ◽  
Nancy D Perrier ◽  
Kate E Lines ◽  
Gerlof D Valk ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Diagnostic Tools ◽  
Surgical Approaches ◽  
Endocrine Tumors ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Basic Biology

Abstract Multiple Endocrine Neoplasia Type 1 (MEN1), a rare tumor syndrome that is inherited in an autosomal dominant pattern, is continuing to raise great interest for endocrinology, gastroenterology, surgery, radiology, genetics and molecular biology specialists. There have been two major clinical practice guidance papers that were published in the past two decades, with the most recent publication 8 years ago. Since then, several new insights on the basic biology and clinical features of MEN1 have appeared in the literature and those data are discussed in this review. The genetic and molecular interactions of the MEN1 encoded protein menin with transcription factors and chromatin modifying proteins in cell signaling pathways mediated by TGF-β/BMP, few nuclear receptors, Wnt/β-catenin and Hedgehog (Hh), and preclinical studies in mouse models have facilitated the understanding of the pathogenesis of MEN1-associated tumors and potential pharmacological interventions. The advancements in genetic diagnosis have offered a chance to recognize MEN1 related conditions in germline MEN1 mutation negative patients. There is a rapidly accumulating knowledge about clinical presentation in children, adolescents and pregnancy that is translatable into the management of these very fragile patients. The discoveries about the genetic and molecular signatures of sporadic neuro-endocrine tumors support the development of clinical trials with novel targeted therapies, along with advancements in diagnostic tools and surgical approaches. Finally, quality of life studies in patients affected by MEN1 and related conditions represent an effort necessary to develop a pharmacoeconomic interpretation of the problem. Because advances are being made both broadly and in focused areas, this timely review presents and discusses those studies collectively.

Prophylactic surgery in patients with multiple endocrine neoplasia type 2a

2001 ◽  
Vol 37 ◽  
pp. S136
Author(s):  
S. Wells ◽  
J. Moley ◽  
M. Skinner ◽  
M. DeBenedetti
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Prophylactic Surgery ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Preimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing

Thyroid ◽  
2018 ◽  
Vol 28 (3) ◽  
pp. 281-287 ◽  
Author(s):  
Songchang Chen ◽  
Shuyuan Li ◽  
Junyu Zhang ◽  
Lanlan Zhang ◽  
Yiyao Chen ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Targeted Sequencing ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Molecular-genetic diagnosis of a Bulgarian family with multiple Endocrine Neoplasia, type IIA

2015 ◽  
Vol 47 (2) ◽  
pp. 72
Author(s):  
Andrey Kirov ◽  
Tihomir Todorov ◽  
Lyudmila Angelova ◽  
Albena Todorova ◽  
Vaniyo Mitev
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Molecular Genetic Diagnosis

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing

2017 ◽  
Vol 42 (2) ◽  
pp. 209-218 ◽  
Author(s):  
Zhen-Fang Du ◽  
Peng-Fei Li ◽  
Jian-Qiang Zhao ◽  
Zhi-Lie Cao ◽  
Feng Li ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Whole Genome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Multiple Endocrine Neoplasia Type 1 Concomitant with Prader-Willi Syndrome: Case Report and Genetic Diagnosis

1999 ◽  
Vol 317 (5) ◽  
pp. 346 ◽  
Author(s):  
Koji Nakajima ◽  
Akihiro Sakurai ◽  
Takeo Kubota ◽  
Miyuki Katai ◽  
Jun-ichiro Mori ◽  
...  
Keyword(s):  
Case Report ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Prader Willi Syndrome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Multiple Endocrine Neoplasia Type 1 Concomitant with Prader-Willi Syndrome: Case Report and Genetic Diagnosis

1999 ◽  
Vol 317 (5) ◽  
pp. 346-349 ◽  
Author(s):  
Koji Nakajima ◽  
Akihiro Sakurai ◽  
Miyuki Katai ◽  
Jun-Ichiro Mori ◽  
Toru Aizawa ◽  
...  
Keyword(s):  
Case Report ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Prader Willi Syndrome ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a

2003 ◽  
Vol 29 (4) ◽  
pp. 331-335 ◽  
Author(s):  
T. Kahraman ◽  
J.W.B. de Groot ◽  
C. Rouwe ◽  
R.M.W. Hofstra ◽  
Th.P. Links ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Prophylactic Surgery ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report

2017 ◽  
Author(s):  
Aline DT Lima ◽  
Vanessa R Alves ◽  
Andressa R Rocha ◽  
Ana C Martinhago ◽  
Ciro Martinhago ◽  
...  
Keyword(s):  
Case Report ◽  
Preimplantation Genetic Diagnosis ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Genetic Diagnosis ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Multiple endocrine neoplasia type 1 presenting as rosacea

1996 ◽  
Vol 21 (2) ◽  
pp. 170-171
Author(s):  
J.D. CREAMER ◽  
S.J. WHITTAKER ◽  
W.A.D. GRIFFITHS
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type
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