SynthesisFamilial cancer2016
MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.
Synthesis in Familial cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.International journal of dermatology · 2026Pooled it
- Cutaneous lichen amyloidosis in multiple endocrine neoplasia type 2A.JCEM case reports · 2026Article
- The Management of Medullary Thyroid Cancer: A Review.Annals of surgical oncology · 2026Review
- Generalized Cutaneous Lichen Amyloidosis in a Patient with an Ultra-Rare RET Y806C Variant Associated with MEN2A: A Case Report and Literature Review.Journal of clinical medicine · 2026Article
- Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Histopathology of C Cells and Medullary Thyroid Carcinoma.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Integrated Network-Based Analysis of Diseases Associated with Amyloid Deposition Through a Disease-Protein-Drug Network.Pharmaceuticals (Basel, Switzerland) · 2024Article
- Endocrine Perspective of Cutaneous Lichen Amyloidosis:Clinics and practice · 2024Article
- Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points AmidInternational journal of molecular sciences · 2024Review
- Primary Localized Cutaneous Amyloidosis in Central Europe: A Retrospective Monocentric Study on Epidemiology and Therapy.Journal of clinical medicine · 2023Article
- Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.Biomedicines · 2023Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- Dermatologic Manifestations of Endocrine Disorders.Cureus · 2021Review
- Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants.American journal of clinical dermatology · 2021Review
- Hereditary medullary thyroid carcinoma syndromes: experience from western India.Familial cancer · 2021Article
- Multiple endocrine neoplasia type 2A with cutaneous lichen amyloidosis.BMJ case reports · 2020Article
- 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.Frontiers in endocrinology · 2020Review
- The RET C611Y mutation causes MEN 2A and associated cutaneousEndocrine connections · 2018Article
- Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors.Endocrine-related cancer · 2018Review
- Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.Frontiers in endocrinology · 2018Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated. The median age at MEN2A diagnosis in our cohort was 25 (13-41) years, 68 % were women and all harbored codon 634 RET mutations. The literature search resulted in 20 publications that contributed with 25 MEN2A families and 214 individuals. The mean age of MEN2A diagnosis was 31 ± 17 years, with 77 % women. The mean age reported by patients to initial skin lesion suggestive to CLA was 20 ± 13 years. All but two kindred harbored mutations at codon 634: C634R 7 kindred (35 %), C634Y 5 kindred (25 %), C634W 3 kindred (15 %), C634G 1 kindred (5 %), V804M 1 kindred (5 %) and S891A 1 kindred (5 %). Most interesting, the standardized CLA prevalence was higher in women (2.3/1.0, P < 0.005). The overall reported prevalence of medullary thyroid carcinoma, CLA, pheochromocytoma and hyperparathyroidism was 94, 51, 30 and 16 %, respectively. SR of literature indicates that MEN2A-related CLA is more frequent in women and presents a high penetrance, being the second most frequent manifestation of the syndrome, preceded only by MTC.
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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.