Evidence map›Paper›PMID 34905813›Full record

ArticleThe Korean journal of internal medicine2022

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

Ji-Young Lee, Su Yeon Kim, Kwan Hoon Jo, Eun Yeong Mo, Eun Sook Kim, Hye Soo Kim, Je Ho Han, Sung-Dae Moon

Abstract read
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In one paragraph

Article in The Korean journal of internal medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Genes · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Ji-Young LeeDepartment of Biomedicine and Health Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Su Yeon KimDivision of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Kwan Hoon JoDivision of Endocrinology and Metabolism, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Eun Yeong MoDivision of Endocrinology and Metabolism, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Eun Sook KimDivision of Endocrinology and Metabolism, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Hye Soo KimDivision of Endocrinology and Metabolism, Department of Internal Medicine, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Daejeon, Korea.
Je Ho HanDivision of Endocrinology and Metabolism, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea.
Sung-Dae MoonDepartment of Biomedicine and Health Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Funding

Ministry of Science and ICTNational Research Foundation of Korea 2016R1A2B4008830
6 · The paper itself

Abstract

BACKGROUND/

aimsGermline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences.

methodsWe analyzed the clinical characteristics of a total of 34 D631Y variant MEN2 individuals from seven families. We also constructed wild-type and mutant C630Y, D631Y, and C634R/W expression vectors and investigated their effects on signaling pathways and ability to correct the phenotypes of RET mutant cells.

resultsThe median ages at diagnosis of pheochromocytoma and medullary thyroid carcinoma (MTC) were higher in patients with RET D631Y variant MEN2 than in those with the C634R/W variant (49:53.5 years vs. 33.5:27 years, respectively), and the penetration of the D631Y mutation with respect to MTC was lower than that of the C634R/W mutation (32.3% vs. 90%). The effects of the mutant vectors on phosphorylation of RET signaling molecules and focus formation were significantly different from those of wild type, but there were no significant differences between the mutants. D631Y scored significantly higher for chemotaxis and wound healing than C630Y, but lower than C634R and C634W.

conclusionWe suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.

Indexed as

Adrenal Gland NeoplasmsMultiple Endocrine Neoplasia Type 2aPheochromocytomaThyroid NeoplasmsCarcinoma, NeuroendocrineHumansProto-Oncogene Proteins c-retProto-Oncogene Proteins c-retRET protein, humanHyperparathyroidism, primaryMultiple endocrine neoplasiaPheochromocytomaThyroid neoplasms

Identifiers

PMID34905813
PMCPMC8925960

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.