ReviewWorld journal of surgery2007
Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma.
Review in World journal of surgery, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Article
- Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?Cancers · 2024Article
- Surgical approaches in hereditary endocrine tumors.Updates in surgery · 2017Review
- The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.Endocrine pathology · 2017Article
- Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case.Surgery today · 2014Article
- Interest of sentinel node biopsy in apparently intrathyroidal medullary thyroid cancer: a pilot study.Journal of endocrinological investigation · 2014Article
- RET mutations in a large indian family with medullary thyroid carcinoma.Indian journal of endocrinology and metabolism · 2014Article
- Timing and extent of thyroid surgery for gene carriers of hereditary C cell disease--a consensus statement of the European Society of Endocrine Surgeons (ESES).Langenbeck's archives of surgery · 2014Article
- An unusual presentation of MEN2A.BMJ case reports · 2013Article
- Pediatric thyroid disease: when is surgery necessary, and who should be operating on our children?Journal of clinical research in pediatric endocrinology · 2013Review
- RET codon 609 mutations: a contribution for better clinical managing.Clinics (Sao Paulo, Brazil) · 2012Review
- Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study.World journal of surgery · 2010Article
- A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.Journal of Korean medical science · 2010Article
- RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.Endocrine · 2009Article
- [Surgery of thyroid carcinoma].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2009Article
- Determination of calcitonin levels in C-cell disease: clinical interest and potential pitfalls.Nature clinical practice. Endocrinology & metabolism · 2009Review
- [Hereditary thyroid cancer].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2008Review
- Evidence-based approach to the management of sporadic medullary thyroid carcinoma.World journal of surgery · 2007Review
- New developments in the diagnosis and treatment of thyroid cancer.CA: a cancer journal for cliniciansReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSince DNA tests have enabled reliable identification of asymptomatic RET (rearranged during transfection) gene carriers, myriads of publications have appeared on genotype-phenotype relationships. A comprehensive appraisal of this body of evidence using evidence-based methodology is pending.
methodsThis study was based on systematic evaluation of the literature using evidence-based criteria.
results(1) There is a distinct age-related progression of hereditary medullary thyroid carcinoma (MTC) in carriers of RET mutations (grade C). (2) Among the high-risk RET mutations, those in codon 634 cause higher penetrance rates of the multiple endocrine neoplasia 2A phenotype (MTC, pheochromocytoma, and parathyroid hyperplasia/adenoma) than mutations in codons 609, 611, 618, and 620, irrespective of the amino acid substituting for cysteine (grade C). (3) DNA-based screening is superior to calcitonin-based screening in asymptomatic RET carriers (grade C). (4) Using a worst-case scenario, i.e., considering the earliest finding of MTC in asymptomatic RET carriers, pre-emptive thyroidectomy should be performed before that time (grade C) to be truly prophylactic. Specifically, for carriers of highest-risk mutations (codon 918): within the first year of life; for carriers of high-risk mutations (codon 609, 611, 618, 620, 630, and 634): before the age of 5 years; and for carriers of least-high risk mutations (codon 768, 790, 791, 804, and 891): before the age of 5-10 years. Strict adherence to these grade C recommendations can result in undertreatment of the former (codon 634) and overtreatment of the latter.
conclusionsThese genotype-phenotype correlations provide a solid foundation on which to base surgical concepts, leaving little room for randomized controlled clinical trials.
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What OpenQuestion holds
Registered trials
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.