文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

BRAF L597Q 和 V600E 原位双突变伴隐匿性甲状腺乳头状癌孤立性脑转移：病例报告。

A double mutation of BRAF L597Q and V600E in situ and solitary brain metastasis of occult papillary thyroid carcinoma: A case report.

机构信息

Doctor of Medicine, Key Laboratory of Molecular Biology of Infectious Diseases, Ministry of Education, Chongqing Medical University.

Bachelor of Medicine, Oncology Department.

出版信息

Medicine (Baltimore). 2021 Feb 12;100(6):e24458. doi: 10.1097/MD.0000000000024458.

DOI:10.1097/MD.0000000000024458
PMID:33578538
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7886408/
Abstract

RATIONALE: The rare BRAF L597Q (c.T1790A) point mutation has been previously reported in childhood acute lymphoblastic leukemia. We present the first rare case of occult papillary thyroid carcinoma with BRAF L597Q mutation in a Tibetan patient. PATIENT CONCERNS: A 57-year-old male patient presented with a protruding mass on the left forehead for 2 years and numbness in the right limb for 3 weeks. DIAGNOSES: The patient had a double mutation of BRAF L597Q and V600E in 2 separate lesions at thyroid and brain, the immunohistochemical staining showed that the cytokeratin (CK), thyroglobulin (Tg) and thyroid transforming factor-1 (TTF-1) were immunoreactive. All the findings supported the diagnosis of solitary brain metastasis of occult papillary thyroid carcinoma. INTERVENTIONS: The patient underwent left frontal lobe metastasis (thyroid cancer) resection that involved craniectomy and artificial skull repair. OUTCOMES: During the 24-month follow-up, no postoperative complications or recurrence and metastasis were found. LESSONS: This is the first case of solitary brain metastasis of occult papillary thyroid carcinoma with double mutation of BRAF L597Q and V600E in 2 separate lesions reported in the literature. Our study extends the disease spectrum of occult papillary thyroid carcinoma and suggests that the BRAF L597Q mutation might play a specific role in inducing the solitary brain metastasis of occult papillary thyroid carcinoma in a Chinese Tibetan patient, but the detailed molecular mechanism remains to be confirmed by a large number of functional experiments and clinical research.

摘要

背景：BRAF L597Q（c.T1790A）点突变在儿童急性淋巴细胞白血病中已有报道。我们报告首例藏人隐匿性甲状腺乳头状癌伴 BRAF L597Q 突变的罕见病例。

病例介绍：一名 57 岁男性患者，因左额部突出肿块 2 年，右侧肢体麻木 3 周就诊。

诊断：患者甲状腺和脑部各有一处 BRAF L597Q 和 V600E 双突变，免疫组化染色显示细胞角蛋白（CK）、甲状腺球蛋白（Tg）和甲状腺转录因子-1（TTF-1）阳性。所有结果均支持孤立性脑转移隐匿性甲状腺乳头状癌的诊断。

干预：患者行左额叶转移灶（甲状腺癌）切除术，包括开颅术和人工颅骨修复术。

结果：在 24 个月的随访中，未发现术后并发症或复发转移。

结论：这是首例文献报道的藏人隐匿性甲状腺乳头状癌伴 BRAF L597Q 和 V600E 双突变的孤立性脑转移病例。我们的研究扩展了隐匿性甲状腺乳头状癌的疾病谱，并提示 BRAF L597Q 突变可能在诱导藏人隐匿性甲状腺乳头状癌的孤立性脑转移中发挥特定作用，但详细的分子机制仍需大量功能实验和临床研究来证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/126212267774/medi-100-e24458-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/d980d347b3f3/medi-100-e24458-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/23f72480644a/medi-100-e24458-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/4d295159c84a/medi-100-e24458-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/126212267774/medi-100-e24458-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/d980d347b3f3/medi-100-e24458-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/23f72480644a/medi-100-e24458-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/4d295159c84a/medi-100-e24458-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/811e/7886408/126212267774/medi-100-e24458-g004.jpg

相似文献

[1]
A double mutation of BRAF L597Q and V600E in situ and solitary brain metastasis of occult papillary thyroid carcinoma: A case report.

Medicine (Baltimore). 2021-2-12

[2]
Relevance and clinicopathologic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China.

Diagn Pathol. 2019-7-12

[3]
Association Between BRAF Mutation and the American College of Radiology Thyroid Imaging, Reporting and Data System in Solitary Papillary Thyroid Carcinoma.

Acad Radiol. 2018-6-23

[4]
BRAF and KRAS mutations in papillary thyroid carcinoma in the United Arab Emirates.

PLoS One. 2020-4-21

[5]
Noninferior response in BRAF(V600E) mutant nonmetastatic papillary thyroid carcinoma to radioiodine therapy.

Eur J Nucl Med Mol Imaging. 2016-6

[6]
BRAF(V600E) mutation is not a positive predictor for distant metastasis in sporadic papillary thyroid carcinoma.

Chin Med J (Engl). 2013-8

[7]
BRAF mutation, BRAF-activated long non-coding RNA and miR-9 expression in papillary thyroid carcinoma, and their association with clinicopathological features.

World J Surg Oncol. 2020-6-27

[8]
Identification of a Recurrent LMO7-BRAF Fusion in Papillary Thyroid Carcinoma.

Thyroid. 2018-5-16

[9]
Associations of the BRAF V600E Mutation and PAQR3 Protein Expression with Papillary Thyroid Carcinoma Clinicopathological Features.

Pathol Oncol Res. 2020-7

[10]
The role of BRAF V600E mutation as a potential marker for prognostic stratification of papillary thyroid carcinoma: a long-term follow-up study.

Endocr Res. 2014

引用本文的文献

[1]
A fundamental and theoretical framework for mutation interactions and epistasis.

Genomics. 2024-11

[2]
Unveiling a rare BRAF mutation in minimally invasive follicular thyroid carcinoma: A case report.

Medicine (Baltimore). 2024-8-23

本文引用的文献

[1]
Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma.

J Clin Med. 2019-11-8

[2]
Diagnosis of thyroid cancer using deep convolutional neural network models applied to sonographic images: a retrospective, multicohort, diagnostic study.

Lancet Oncol. 2018-12-21

[3]
NCCN Guidelines Insights: Thyroid Carcinoma, Version 2.2018.

J Natl Compr Canc Netw. 2018-12

[4]
Performance of a Multigene Genomic Classifier in Thyroid Nodules With Indeterminate Cytology: A Prospective Blinded Multicenter Study.

JAMA Oncol. 2019-2-1

[5]
Change in Diagnostic Criteria for Noninvasive Follicular Thyroid Neoplasm With Papillarylike Nuclear Features.

JAMA Oncol. 2018-8-1

[6]
Expression of the BRAF mutation in sporadic neurofibromas of the upper extremity.

Exp Mol Pathol. 2017-12

[7]
The 2017 Bethesda System for Reporting Thyroid Cytopathology.

Thyroid. 2017-11

[8]
Thyroid nodule update on diagnosis and management.

Clin Diabetes Endocrinol. 2016-10-3

[9]
Thyroid cancer screening.

Lancet. 2017-5-20

[10]
Vemurafenib in patients with BRAF(V600E)-positive metastatic or unresectable papillary thyroid cancer refractory to radioactive iodine: a non-randomised, multicentre, open-label, phase 2 trial.

Lancet Oncol. 2016-9

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索