Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2)

被引:0
作者
Stanescu, Laura-Semonia [1 ,2 ]
Ghemigian, Adina [2 ,3 ]
Ciobica, Mihai-Lucian [4 ,5 ]
Nistor, Claudiu [6 ,7 ]
Ciuche, Adrian [6 ,7 ]
Radu, Andreea-Maria [8 ,9 ]
Sandru, Florica [8 ,9 ]
Carsote, Mara [2 ,3 ]
机构
[1] Carol Davila Univ Med & Pharm, PhD Doctoral Sch, Bucharest 0505474, Romania
[2] CI Parhon Natl Inst Endocrinol, Dept Clin Endocrinol 5, Bucharest 011863, Romania
[3] Carol Davila Univ Med & Pharm, Dept Endocrinol, Bucharest 020021, Romania
[4] Carol Davila Univ Med & Pharm, Dept Internal Med & Gastroenterol, Bucharest 020021, Romania
[5] Dr Carol Davila Cent Mil Univ, Dept Internal Med & Rheumatol 1, Emergency Hosp, Bucharest 010825, Romania
[6] Carol Davila Univ Med & Pharm, Dept Cardiothorac Pathol 4, Thorac Surg Discipline 2, Bucharest 0505474, Romania
[7] Dr Carol Davila Cent Emergency Univ Mil Hosp, Thorac Surg Dept, Bucharest 010825, Romania
[8] Elias Univ Emergency Hosp, Dept Dermatovenerol, Bucharest 011461, Romania
[9] Carol Davila Univ Med & Pharm, Dept Dermatovenerol, Bucharest 020021, Romania
关键词
thyroid; RET; amyloidosis; neuroendocrine; multiple endocrine neoplasia; skin; thyroid malignancy; lichen; codon; gene; CONTRAST-ENHANCED ULTRASOUND; PROTOONCOGENE MUTATIONS; ASSOCIATION GUIDELINES; HIRSCHSPRUNGS-DISEASE; NOTALGIA PARESTHETICA; MOLECULAR-MECHANISMS; MACULAR AMYLOIDOSIS; CLINICAL-FEATURES; TRANSFORMING GENE; RECEPTOR RET;
D O I
10.3390/ijms25189765
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
We aimed to provide an updated narrative review with respect to the RET pathogenic variants and their implications at the clinical and molecular level in the diagnosis of medullary thyroid cancer (MTC)/multiple endocrine neoplasia (MEN) type 2, particularly with respect to the presence of cutaneous lichen amyloidosis (CLA). We searched English-language, in extenso original articles with no timeline nor study design restriction that were published on PubMed. A traditional interplay stands for CLA and MTC in MEN2 (not MEN3) confirmation. While the connection has been reported for more than three decades, there is still a large gap in understanding and addressing it. The majority of patients with MEN2A-CLA have RET pathogenic variants at codon 634; hence, it suggests an involvement of this specific cysteine residue in both disorders (most data agree that one-third of C634-positive subjects have CLA, but the ranges are between 9% and 50%). Females seem more prone to MEN2-CLA than males. Non-C634 germline RET pathogenic variants included (at a low level of statistical evidence) the following: RET V804M mutation in exon 14 for MTC-CLA (CLA at upper back); RET S891A mutation in exon 15 binding OSMR variant G513D (familial MTC and CLA comprising the lower legs to thighs, upper back, shoulders, arms, and forearms); and C611Y (CLA at interscapular region), respectively. Typically, CLA is detected at an early age (from childhood until young adulthood) before the actual MTC identification unless RET screening protocols are already applied. The time frame between CLA diagnosis and the identification of RET pathogenic variants was between 5 and 60 years according to one study. The same RET mutation in one family is not necessarily associated with the same CLA presentation. In MTC/MEN2 subjects, the most affected CLA area was the scapular region of the upper back. Alternatively, another hypothesis highlighted the fact that CLA is secondary to long-term prurit/notalgia paresthetica (NP) in MTC/MEN2. OSMR p. G513D may play a role in modifying the evolutionary processes of CLA in subjects co-harboring RET mutations (further studies are necessary to sustain this aspect). Awareness in CLA-positive patients is essential, including the decision of RET testing in selected cases.
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页数:21
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