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 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

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.

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

scholarly journals Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiao-Ping Qi ◽  
Jian-Qiang Zhao ◽  
Xu-Dong Fang ◽  
Bi-Jun Lian ◽  
Feng Li ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Targeted Sequencing ◽  
Current Evidence ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Uncertain Significance ◽  
Exon 11 ◽  
Double Base

Abstract Background Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients. Methods Targeted sequencing detected germline RET variants in 697 individuals, including 245 MEN2, 120 sporadic medullary thyroid cancer (MTC), and 15 pheochromocytoma (PHEO) patients and their 493 relatives. In silico analyses and classifications following ACMG-2015 were performed. Demographic, clinical variant types, and endocrine neoplasia molecular diagnosis records were also analyzed. Results Nineteen different RET mutations (18 point and 1 del/ins mutations) in 214 patients with MEN2A (97.7%) or MEN2B (2.3%) were found, of which exon 11/10 mutations accounted for 79% (169/214). Nineteen compound mutations were found in 31 patients with MEN2A. Twenty-three variants (18 single and 5 double base substitution/compound variants) non-classification were also found. Of these, 17 (3 of pathogenic, 10 of uncertain significance, 2 of likely benign and 2 as benign) were found in 31 patients with MTC/PHEO. The remaining 6 variants (4 of uncertain significance and 2 of likely benign) found in 8 carriers had no evidence of MEN2. The entire cohort showed MEN2A-related PHEO, all occurring in exons 11/10, particularly at C634. Kaplan-Meier curves showed age-dependent penetration rates of MTC and PHEO, and occurrence rates of PHEO in patients with exon 11 mutations were all higher than those within exon 10; these bilateral PHEO were always associated with exon 11 mutations (all P < 0.05). While patient offspring had PHEO, parents with MEN2A had none, the frequency was approximately 10%. Interestingly, at least 6.8% of families were adoptive. Also, 3 non-hotspot RET variants (R114H, T278N, and D489N) appeared with high frequency. Conversely, polymorphism S836S was absent. Conclusions These data are largely consistent with current evidence-based recommendations in the clinical practice guidelines. Diversity of RET variants or carriers may involve a different natural disease course. Further large-scale targeted sequencing studies will serve as an accurate and cost-effective approach to investigating MEN2 genotype-phenotype correlations for discovery of rare or unknown variants of RET.

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

scholarly journals Spectrum of Germline RET Variants Identified by Targeted Sequencing and Associated Multiple Endocrine Neoplasia Type 2 Susceptibility in China

2021 ◽  
Author(s):  
Xiaoping Qi ◽  
Jianqiang Zhao ◽  
Xudong Fang ◽  
Bijun Lian ◽  
Feng Li ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Targeted Sequencing ◽  
Current Evidence ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Uncertain Significance ◽  
Exon 11 ◽  
Double Base

Abstract Background: Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients. Methods: Targeted sequencing detected germline RET variants in 697 individuals, including 245 MEN2, 120 sporadic medullary thyroid cancer (MTC), and 15 pheochromocytoma (PHEO) patients and their 493 relatives. In silico analyses and classifications following ACMG-2015 were performed. Demographic, clinical variant types, and endocrine neoplasia molecular diagnosis records were also analyzed. Results: Nineteen different RET mutations (18 point and 1 del/ins mutations) in 214 patients with MEN2A (97.7%) or MEN2B (2.3%) were found, of which exon 11/10 mutations accounted for 79% (169/214). Nineteen compound mutations were found in 31 patients with MEN2A. Twenty-three variants (18 single and 5 double base substitution/compound variants) non-classification were also found. Of these, 17 ( 3 of pathogenic, 10 of uncertain significance, 2 of likely benign and 2 as benign) were found in 31 patients with MTC/PHEO. The remaining 6 variants (4 of uncertain significance and 2 of likely benign) found in 8 carriers had no evidence of MEN2. The entire cohort showed MEN2A-related PHEO, all occurring in exons 11/10, particularly at C634. Kaplan-Meier curves showed age-dependent penetration rates of MTC and PHEO, and occurrence rates of PHEO in patients with exon 11 mutations were all higher than those within exon 10; these bilateral PHEO were always associated with exon 11 mutations (all P < 0.05). While patient offspring had PHEO, parents with MEN2A had none, the frequency was approximately 10%. Interestingly, at least 6.8% of families were adoptive. Also, 3 non-hotspot RET variants (R114H, T278N, and D489N) appeared with high frequency. Conversely, polymorphism S836S was absent. Conclusions: These data are largely consistent with current evidence-based recommendations in the clinical practice guidelines. Diversity of RET variants or carriers may involve a different natural disease course. Further large-scale targeted sequencing studies will serve as an accurate and cost-effective approach to investigating MEN2 genotype-phenotype correlations for discovery of rare or unknown variants of RET.

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

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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