Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2)
Abstract
:1. Introduction
2. Medullary Thyroid Carcinoma (MTC) and Multiple Endocrine Neoplasia (MEN) Harboring RET Pathogenic Variants
3. Insights into Lichen Amyloidosis (LA)
4. CLA in MTC/MEN2
4.1. Traditional Pathogenic Aspects in CLA in Patients Diagnosed with MEN2
4.2. Sample-Based Data in MTC/MEN2-Related CLA
5. Discussion
5.1. Unraveling Clinical CLA Insights
5.2. Integrating MTC/MEN2-Related CLA into the Larger Frame of Skin Lesions in Neuroendocrine Neoplasia and Endocrine Tumors/Malignancies
5.3. Current Limits and Further Expansion
6. Conclusions
- MEN2-related CLA occurs in patients with C634 RET pathogenic variants; most data agree that one-third of C634-positive subjects have CLA, but the ranges are between 9% and 50%.
- One single study showed the RET codons map (codon 634 in exon 11) in CLA: C634Y (affecting 43.6% of the subjects), followed by C634R (27.3%), C634W (10.9%), C634G (9.1%), C634F (1.8%), and C634 (5.5%).
- Non-C634 germline RET pathogenic variants included (at a low level of statistical evidence) the following: RET V804M mutation in exon 14 for MTC and CLA (CLA at upper back); RET S891A mutation in exon 15 binding OSMR variant G513D (FMTC and CLA comprising the lower legs to thighs, upper back, shoulders, arms, and forearms); and C611Y (CLA at interscapular region).
- Awareness in CLA-positive patients is essential, including the decision of RET testing in selected cases (Table 2).
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
BA | biphasic amyloidosis |
CLA | cutaneous lichen amyloidosis |
CRD | cysteine-rich domain |
EDNRH | endothelin receptor type B |
EBV | Epstein–Barr virus |
FMTC | familial medullary thyroid carcinoma |
GDNF | glial cell line-derived neurotrophic growth factor |
GFRα | GDNF family receptor alpha |
IL | interleukin |
HD | Hirschsprung disease |
HPTH | primary hyperparathyroidism |
LA | lichen amyloidosis |
MTC | medullary thyroid carcinoma |
MEN | multiple endocrine neoplasia |
MA | macular amyloidosis |
NA | nodular amyloidosis |
NP | notalgia paresthetica |
NME | necrolytic migratory erythema |
OSMR | oncostatin M receptor beta subunit |
PTC | papillary thyroid carcinoma |
PLCA | primary localized cutaneous amyloidosis |
PHEO | phaeochromocytoma |
PUVA | psoralen with UVA |
RET | Rearranged during Transfection |
sMTC | sporadic medullary thyroid carcinoma |
SEER | Surveillance, Epidemiology, and End Results |
TKD | tyrosine kinase domain |
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Publication Data Reference | Studied Population (MEN Subtype) | RET Mutation | CLA + [n (%)] | Sex CLA + M:F (F%) | Age CLA at Diagnosis (Years) | Clinical Features of CLA | Treatment | Associated Endocrine Lesions MTC [n (%)] PHEO [n (%)] HPTH [n (%)] | Other Observations |
---|---|---|---|---|---|---|---|---|---|
Fang X et al., 2022 [147] | 28 MEN2A | C634G/F/R/S/W and C611Y | 8/28 | 2:6 | 18.4 ± 4.6 | Interscapular region | NA | NA | Incidence of CLA in C611Y lower than those in C634G/F/R/S/W |
Tang HX et al., 2021 [148] | 8 MEN2A | C634R | 1/8 | 0:1 (100) | NA | Interscapular area of the left back corresponding to dermatomes T2-T6 level | Topical GC | PHEO, MTC, HPTH | Pruritus before CLA CLA 22 years earlier than other endocrine symptoms of MEN2A Pruritus relieved temporarily by topical GS |
Malhotra et al., 2020 [149] | A 33-year-old | 634 | 1 (100) | 0:1 (100) | NA | Right scapular region | NA | Metastatic MTC, PHEO | Pruritus before CLA |
Pal R et al., 2018 [150] | A 45-year-old | C634R | 1 (100) | 0:1 (100) | 41 | Interscapular region | NA | Metastatic PHEO, MTC | |
Zhang XW et al., 2016 [151] | 73 | 634 | 14/73 () | NA | NA | NA | NA | ||
Scapineli JO et al., 2016 [121] | 38 ᵃ MEN2A | C634Y/R/W | 18 (50) | 5:13 (72) | 19 ± 10 | Interescapular region | NA | MTC 37 (97) PHEO 11 (31) HPTH 6 (19) | −15/18, 83% CLA before other endocrine symptoms of MEN2A Pruritus before CLA |
Qi XP et al., 2015 [139] | 6 MEN2A | S891A and G513D ᵇ | 3 (50) | 2:1 (33) | 29 ± 2 | Upper back and legs, arms, shoulders | All patients were treated with glucocorticoid cream, which resulted in a decreased period of itching, but the application was discontinued due to side effects. | MTC 3 (50) PHEO 0, HPTH 0 | Pruritus before CLA |
Rothberg AE et al., 2009 [56] | 1 FMTC | V804M | 1 (100) | 0:1 (100) | 40 | Interscapular | Glucocorticoid cream provided minimal relief, but no other medication was palliative. | MTC 1 (100) PHEO 0, HPTH 0 | Pruritus worsened by stress |
Gullu S et al., 2005 [144] | 1 MEN2A | C634Y | 1 (100) | 0:1 (100) | 34 | Interscapular region | NA | 1 (100) MTC, 1 (100) bilateral PHEO, 0 (0) HPTH | Pruritus present |
Abdullah F et al., 2004 [146] | 4 MEN2A | 634 | 3 (75) | 0:3 (100) | 31 ± 14 | Interscapular region | NA | 4 (100) MTC, PHEO NA, HPTH NA | |
Lemos MC et al., 2003 [152] | 5 MEN2A | C634W | 4 (80) | 1:3 (75) | 33 ± 21 | NA | NA | 5 (100)CMT, 2(40) PHEO, 2(40)HPTH | |
Vieira AE et al., 2002 [153] | 4 MEN2A | C634Y/R | 1 (25) | 0:1 (100) | 21 | NA | NA | 1 (100) MTC, 1 (100) PHEO, 1(100) HPTH | |
Lemos MC et al., 2002 [154] | 1 MEN2A | C634W | 1 (100) | NA | 5 | NA | NA | 1 (100) MTC, 0 (0) PHEO, 0 (0) HPTH | |
Karga HJ et al., 1998 [145] | 29 MEN2A | 12 C634R/2 C620Y/15 C634Y | 1 (3.4) | 1:0 (0) | 24 | NA | NA | 1 (100) MTC, 1 (50) PHEO, 0 (0) HPTH | CLA before the diagnosis of MEN 2A |
Seri M et al., 1997 [142] | 2 MEN2A | C634G | 2 (100) | 0:2 (100) | 49 ± 7 | Interscapular | NA | 2 (100) MTC, 1 (50) PHEO, 0 (0) HPTH | Pruritus present |
Pacini F et al., 1993 [155] | 11 MEN2A | NA | 4 (36) | 0:4 (100) | NA | Interscapular region | NA | NA | Pruritus present |
Kousseff BG et al., 1991 [128] | 6 MEN2A | NA | 2 (33) | 0:2 (100) | NA | Interscapular region | NA | 6 (100) 5 (83) 0 (0) | Pruritus present |
Ferrer JP et al., 1991 [143] | 7 MEN2A | C634W | 5 (71) | 2:3 (60) | 16 ± 7 | Interscapular region | NA | 7 (100) 0 (0) 0 (0) | |
Gagel RF et al., 1989 [136] | 5 MEN2A | NA | 3 (60) | 0:4 (100) | 19 ± 1 | Upper back | Topical GS | 5 (100) 1 (20) NA | Pruritus relieved temporarily by topical GS |
Nunziata V et al., 1989 [156] | 10 MEN2A | NA | 5 (50) | 1:4 (80) | 7 ± 2 | NA | NA | 10 (100) 3 (30) NA | Prurit present |
Number | Key Findings according to Our Search |
---|---|
1. | MEN2-related CLA occurs in patients with C634 RET pathogenic variants; most data agree that one-third of the C634-positive subjects have CLA, but the ranges are between 9% and 50%. |
2. | One single study showed the RET codons map (codon 634 in exon 11) in CLA: C634Y (affecting 43.6% of the subjects), followed by C634R (27.3%), C634W (10.9%), C634G (9.1%), C634F (1.8%), and C634 (5.5%). |
3. | Non-C634 germline RET pathogenic variants included (at a low level of statistical evidence) the following: RET V804M mutation in exon 14 for MTC and CLA (CLA at upper back); RET S891A mutation in exon 15 binding OSMR variant G513D (FMTC and CLA comprising the lower legs to thighs, upper back, shoulders, arms, and forearms); and C611Y (CLA at interscapular region). |
4. | 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. |
5. | The time frame between CLA diagnosis and the identification of RET pathogenic variants varied between 5 and 60 years according to one study. |
6. | Females seem more prone to MEN2-CLA than males. |
7. | The same RET mutation is not necessarily associated with the same CLA presentation. |
8. | In MTC/MEN2 subjects, the most affected CLA area was the scapular region of the upper back. |
9. | Alternatively, another hypothesis highlights the fact that CLA is secondary to a long-term prurit/notalgia paresthetica in MTC/MEN2, and not to a distinct RET influence. |
10. | The relationship between NP and MEN2 might be explained by the fact that neural crest cells, implicated in the embryological development of the adrenal medulla and para-follicular C cells of the thyroid, are also involved in the embryogenesis of the thoracic sensory fibers that explains the pruritus sites. |
11. | While the NP hypothesis might explain some cases, pruritus may be largely absent in a high percentage of patients with PLCA, including some patients with LCA-MEN2; thus, other pathogenic loops might actually be involved. |
12. | Alternatively, it has been suggested that pathogenic variants in OSMR and IL31RA genes lead to incorrect IL-31 signaling, which is directly related to local pruritus (and the co-presence of other non-RET mutations should be taken into consideration to explain CLA in MTC/MEN2). |
13. | OSMR p.G513D may play a role in modifying the evolutionary processes of LA in the subjects that co-harbor RET mutations (further studies are necessary to sustain this aspect). |
14 | Awareness in CLA-positive patients is essential, including the decision of RET testing in selected cases. |
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Stanescu, L.-S.; Ghemigian, A.; Ciobica, M.-L.; Nistor, C.; Ciuche, A.; Radu, A.-M.; Sandru, F.; Carsote, M. Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2). Int. J. Mol. Sci. 2024, 25, 9765. https://doi.org/10.3390/ijms25189765
Stanescu L-S, Ghemigian A, Ciobica M-L, Nistor C, Ciuche A, Radu A-M, Sandru F, Carsote M. Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2). International Journal of Molecular Sciences. 2024; 25(18):9765. https://doi.org/10.3390/ijms25189765
Chicago/Turabian StyleStanescu, Laura-Semonia, Adina Ghemigian, Mihai-Lucian Ciobica, Claudiu Nistor, Adrian Ciuche, Andreea-Maria Radu, Florica Sandru, and Mara Carsote. 2024. "Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2)" International Journal of Molecular Sciences 25, no. 18: 9765. https://doi.org/10.3390/ijms25189765