Genomic profiling of lymph node and distant metastases from papillary and poorly differentiated thyroid carcinomas.

IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrine Pub Date : 2024-11-01 Epub Date: 2024-07-19 DOI:10.1007/s12020-024-03968-0
Valdemar Máximo, Miguel Melo, Manuel Sobrinho-Simões, Paula Soares, Arnaud Da Cruz Paula
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Abstract

Purpose: To perform a molecular profiling of the metastases from papillary thyroid carcinomas (PTCs) and poorly differentiated thyroid carcinomas (PDTCs).

Methods: We retrieved and analyzed the molecular and clinical features of 136 metastases from PTCs and 35 metastases from PDTCs subjected to targeted DNA sequencing, from cBioPortal. The clinicopathological data included the number and location of the metastases, and genomic data included mutations, translocations, copy number alterations and fraction of the genome altered (FGA).

Results: Bone metastases from PTCs had a lower frequency of BRAF mutations than the lymph node metastases (LNMs) (43% vs 88%, p < 0.01), and a higher frequency of RBM10 and NRAS mutations than the LNMs (21% vs 3% for both, p < 0.05). The FGA of the bone metastases was higher than the FGA of the lung metastases (5.6% vs 1.3%, p < 0.05). The frequency of RET translocations was higher in the lung metastases from PTCs than the LNMs (15% vs 3%, p < 0.05). The LNMs from PTC patients harboring 4 or more distant metastases (DMs) had a higher frequency of TERT promoter mutations than the LNMs from patients harboring less than 4 DMs (96% vs 65%, p < 0.001). SDHA gene amplifications were enriched in the bone metastases from PDTCs and absent in the LNMs (38% vs 0%, p < 0.05).

Conclusion: Metastases from PTCs and PDTCs harbor clinically relevant alterations affecting distinct body locations, such as NRAS and RBM10 mutations, RET translocations and SDHA amplifications that may be explored therapeutically.

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乳头状甲状腺癌和分化不良甲状腺癌淋巴结和远处转移的基因组图谱分析。
目的:对甲状腺乳头状癌(PTC)和分化不良甲状腺癌(PDTC)的转移灶进行分子分析:我们从cBioPortal检索并分析了136例PTC转移灶和35例PDTC转移灶的分子和临床特征,并对其进行了DNA靶向测序。临床病理数据包括转移灶的数量和位置,基因组数据包括突变、易位、拷贝数改变和基因组改变比例(FGA):结果:PTC 骨转移灶的 BRAF 突变频率低于淋巴结转移灶(LNM)(43% 对 88%,P 结论:PTC 骨转移灶和淋巴结转移灶的 BRAF 突变频率均高于淋巴结转移灶:PTC和PDTC的转移灶蕴藏着影响不同身体部位的临床相关改变,如NRAS和RBM10突变、RET易位和SDHA扩增,这些改变可用于治疗。
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来源期刊
Endocrine
Endocrine ENDOCRINOLOGY & METABOLISM-
CiteScore
6.50
自引率
5.40%
发文量
295
审稿时长
1.5 months
期刊介绍: Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.
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