Frequent association between MEN 2A and cutaneous lichen amyloidosis

Verga, Uberta; Fugazzola, Laura; Cambiaghi, Stefano; Pritelli, Chiara; Alessi, Elvio; Cortelazzi, Donatella; Gangi, Emanuela; Beck‐Peccoz, Paolo

doi:10.1046/j.1365-2265.2003.01782.x

Cited by 124 publications

(105 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…MTC is the common feature in MEN2A patients (100%), PC is observed in 50% of patients and HPT in 15-30% of the cases (Sipple 1984). Occasionally, MEN 2A can be associated with cutaneous lichen amyloidosis (a pruritic and pigmented papular lesion of the skin on the upper back) (Verga et al 2003).…”

Section: Clinical Subtypes Associated To Men2mentioning

confidence: 99%

Structure and function of RET in multiple endocrine neoplasia type 2

Plaza-Menacho¹

2018

Endocrine-Related Cancer

View full text Add to dashboard Cite

Correspondence should be addressed to I Plaza-Menacho: iplaza@cnio.esThis paper is part of a thematic review section on 25 Years of RET and MEN2. The guest editors for this section were Lois Mulligan and Frank Weber. AbstractIt has been twenty-five years since the discovery of oncogenic germline RET mutations as the cause of multiple endocrine neoplasia type 2 (MEN2). Intensive work over the last two and a half decades on RET genetics, signaling and cell biology has provided the current bases for the genotype-phenotype and functional correlations within this cancer syndrome. On the contrary, the structural and molecular basis for RET tyrosine kinase domain activation and oncogenic deregulation has remained largely elusive. Recent studies with a strong crystallographic and biochemical focus have started to elucidate key insights into such molecular and atomic details revealing unexpected and private mechanisms of actions and molecular determinants not previously envisioned. This review focuses on the structure and function of the RET receptor, and in particular, on what a more detailed view of the protein itself and what the current structural and molecular information tell us about the genotype and phenotype relationships in the cancer syndrome MEN2.

show abstract

Section: Clinical Subtypes Associated To Men2mentioning

confidence: 99%

Structure and function of RET in multiple endocrine neoplasia type 2

Plaza-Menacho¹

2018

Endocrine-Related Cancer

View full text Add to dashboard Cite

show abstract

“…Clinical history determines if the family has FMTC, since some RET mutations exhibit interfamily heterogeneity and can result in either the FMTC or MEN2A phenotype [Berndt et al, 1998;Brandi et al, 2001;Hansford and Mulligan, 2000]. Some additional clinical features or diseases reported in a few MEN2 families, such as cutaneous lichen amyloidosis (CLA), Hirschsprung disease (HSCR; MIM 142623), and CNT, are associated with specific RET mutations and exhibit variable or reduced penetrance Eng et al, 1996;Verga et al, 2003;Yip et al, 2003]. A more in-depth review of the MEN2 RET literature is available in the Supporting Information, Online Appendix (available in the online version of this article).…”

Section: Introduction Multiple Endocrine Neoplasia Type 2 and The Retmentioning

confidence: 99%

Multiple endocrine neoplasia type 2RETprotooncogene database: Repository of MEN2-associatedRETsequence variation and reference for genotype/phenotype correlations

et al. 2009

View full text Add to dashboard Cite

Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RETexons 10, 11, and 13-16. Our group has developed the publicly available, searchable MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome Variation Society recommendations for sequence variation nomenclature and database content. The MEN2 RET database catalogs all RET sequence variation relevant to the MEN2 syndromes, with associated clinical information. Each database entry lists a RET sequence variation's location within the RET gene, genotype, pathogenicity classification, MEN2 phenotype, first literature reference, and comments (which may contain information on other clinical features, complex genotypes, and additional literature references). The MEN2 phenotype definitions were derived from the International RET Mutation Consortium guidelines for classification of MEN2 disease phenotypes. Although nearly all of the 132 RET sequence variation entries initially cataloged in the database were from literature reports, novel sequence variation and updated phenotypic information for any existing database entry can be submitted electronically on the database website. The database website also contains links to selected MEN2 literature reviews, gene and protein information, and RET reference sequences. The MEN2 RET database (www.arup.utah.edu/database/MEN2/ MEN2_welcome.php) will serve as a repository for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 phenotype correlations.

show abstract

“…That seems to be proved by our results with the presence of a MTC on our patients of this family presenting this mutation subject to a single patient who didn't receive clinical, biological and radiological investigations. In the contrary, cutaneous manifestations during MEN 2A like lichen amyloid that might be more common on individuals with a mutation of codon 634 were not rec-Open Journal of Endocrine and Metabolic Diseases orded in our patients [12].…”

Section: Discussionmentioning

confidence: 64%

Management of Multiple Endocrine Neoplasia Type 2A (MEN 2A): Diagnostic and Therapeutic Concerns with the First Documented Senegalese Family

Leye¹,

Diack²,

Ndour³

et al. 2018

OJEMD

View full text Add to dashboard Cite

Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on

show abstract

Frequent association between MEN 2A and cutaneous lichen amyloidosis

Cited by 124 publications

References 19 publications

Structure and function of RET in multiple endocrine neoplasia type 2

Structure and function of RET in multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2RETprotooncogene database: Repository of MEN2-associatedRETsequence variation and reference for genotype/phenotype correlations

Management of Multiple Endocrine Neoplasia Type 2A (MEN 2A): Diagnostic and Therapeutic Concerns with the First Documented Senegalese Family

Contact Info

Product

Resources

About