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一名患有胸主动脉瘤且存在MYH11变异的患者的稳定型甲状腺癌。

Stable thyroid cancer in a patient with thoracic aortic aneurysm and MYH11 variation.

作者信息

Fatourechi Vahab, Swanson Amy A, Lee Robert A

机构信息

Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

出版信息

Endocrinol Diabetes Metab Case Rep. 2024 Jan 8;2024(1). doi: 10.1530/EDM-23-0088. Print 2024 Jan 1.

Abstract

SUMMARY

We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy. He is now 71 years old, which is 57 years after the initial resection. The patient received care at our institution from July 2009 to August 2019, during which we documented the stability of multiple calcified masses in the neck. Follow-up examinations at another institution from September 2019 to April 2023 also confirmed the stability of the masses. The underlying cause of this unusually long indolent course of the disease is unclear. Whether extensive tumor calcifications or the MYH11 sequence variation contributed to the disease course is also uncertain.

LEARNING POINTS

Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades. If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases. This is the first report of an MYH11 gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases. Future studies of MYH11 gene alterations in thyroid carcinoma are needed.

摘要

摘要

我们报告了一例男性患者,患有甲状腺乳头状癌、家族性胸主动脉瘤和夹层,且MYH11基因存在变异。由于颈部肿瘤体积较大无法切除,该患者在14岁时接受了部分切除术。从那时起,患者仅接受甲状腺激素抑制治疗。他现在71岁,距初次切除已过去57年。该患者于2009年7月至2019年8月在我们机构接受治疗,在此期间我们记录了颈部多个钙化肿块的稳定性。2019年9月至2023年4月在另一机构的随访检查也证实了肿块的稳定性。这种疾病异常漫长的惰性病程的根本原因尚不清楚。广泛的肿瘤钙化或MYH11序列变异是否导致了病程也不确定。

学习要点

伴有颈部转移的甲状腺乳头状癌在某些情况下可能稳定且数十年无症状。如果多年来记录到甲状腺乳头状癌的局部区域稳定性,在某些选定病例中,观察可能比广泛的颈部手术更可取。这是首例关于患有惰性颈部转移的甲状腺乳头状癌患者出现MYH11基因改变和胸主动脉瘤的报告。未来需要对甲状腺癌中的MYH11基因改变进行研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7cf/10831535/e2bcd3473ca9/EDM23-0088fig1.jpg

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