Dissection of RET p.M918T-driven progression of hereditary vs. sporadic medullary thyroid cancer

IF 3.5 2区医学 Q2 ONCOLOGY

Ejso Pub Date : 2024-12-16 DOI:10.1016/j.ejso.2024.109549

Andreas Machens , Kerstin Lorenz , Frank Weber , Henning Dralle

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引用次数: 0

Abstract

Background

Whether inherited in the context of multiple endocrine neoplasia 2B at germline level or acquired in a lifetime, all RET p.M918T (RET c.2753T>C) mutations should activate the RET tyrosine kinase receptor alike, with similar degrees of medullary thyroid cancer (MTC) progression when disparities in disease onset and multifocal growth are accounted for.

Methods

This cross-sectional analysis of RET p.M918T-driven progression of hereditary MTC (33 patients) vs. sporadic MTC (36 patients) sought to explore this hypothesis.

Results

Patients with hereditary disease were significantly younger at thyroidectomy (medians of 10 vs. 57 yrs.) and featured significantly more often multifocal growth (69 vs. 14 %) with more thyroid tumor foci (medians of 2 foci vs. 1 focus) than patients with sporadic disease.

Although the former had 3.6-fold smaller primary thyroid tumor diameters (medians of 5 vs. 18 mm) and twice as many neck nodes dissected (medians of 66.5 vs. 32 nodes) than the latter, extrathyroid tumor extension (42 vs. 36 %), node metastasis (64 vs. 77 %), distant metastasis (33 vs. 17 %), and biochemical cure rates (45 vs. 35 %) were fairly comparable, as was the number of dissected node metastases (medians of 7 vs. 8 involved nodes).

Sensitivity analyses, with breakdown of patients by tumor multifocality and nodal status, corroborated these findings.

Conclusion

RET p.M918T-driven progression of MTC is similar in hereditary and sporadic disease, barring earlier development and more frequent multifocal growth of hereditary MTC. This makes a compelling case for referral of patients with RET p.M918T-driven MTCs to specialist surgical centers.

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RET p.m 918t驱动的遗传性与散发性甲状腺髓样癌进展的解剖分析。

背景：无论是在种系水平的多发性内分泌肿瘤2B的背景下遗传还是在一生中获得，所有RET p.M918T （RET C . 2753t >C）突变都应该激活RET酪氨酸激酶受体，当疾病发病和多灶性生长的差异被考虑在内时，具有相似程度的甲状腺髓样癌（MTC）进展。方法：对RET p.m 918t驱动的遗传性MTC（33例）和散发性MTC（36例）的进展进行横断面分析，试图探索这一假设。结果：遗传性疾病患者在甲状腺切除术时明显更年轻（中位数为10岁vs. 57岁），多灶性生长（69岁vs. 14%）和更多甲状腺肿瘤灶（中位数为2个灶vs. 1个灶）明显多于散发性疾病患者。虽然前者的原发性甲状腺肿瘤直径比后者小3.6倍（中位数为5比18毫米），颈部淋巴结清扫数是后者的两倍（中位数为66.5比32个淋巴结），但甲状腺外肿瘤扩展（42比36%）、淋巴结转移（64比77%）、远处转移（33比17%）和生化治愈率（45比35%）相当相似，淋巴结清扫转移的数量（中位数为7比8）。敏感性分析，通过肿瘤多灶性和淋巴结状态对患者进行细分，证实了这些发现。结论：RET p.m 918t驱动的MTC进展在遗传性和散发性疾病中相似，阻止了遗传性MTC的早期发展和更频繁的多灶生长。这使得RET p.m 918t驱动的MTCs患者转介到专科外科中心的案例引人注目。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ejso 医学-外科

CiteScore

6.40

自引率

2.60%

发文量

1148

审稿时长

41 days

期刊介绍： JSO - European Journal of Surgical Oncology ("the Journal of Cancer Surgery") is the Official Journal of the European Society of Surgical Oncology and BASO ~ the Association for Cancer Surgery. The EJSO aims to advance surgical oncology research and practice through the publication of original research articles, review articles, editorials, debates and correspondence.