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硬纤维瘤病——诊断难题

Desmoid fibromatosis-a diagnostic dilemma.

作者信息

Mittal Manaswini, Pillai Suresh, Monappa Vidya, Devaraja K, Majumdar Kinjal Shankar

机构信息

Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Division of Head and Neck Surgery, Department of Otorhinolaryngology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

出版信息

Eur Arch Otorhinolaryngol. 2024 Jun;281(6):3269-3278. doi: 10.1007/s00405-024-08558-4. Epub 2024 Mar 26.

DOI:10.1007/s00405-024-08558-4
PMID:38530459
Abstract

PURPOSE

Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics.

METHODS

This case report focuses on a 69-year-old male who presented to a tertiary healthcare center in Karnataka, India with a swelling in the oral cavity.

RESULTS

Despite initial suspicions of malignancy based on clinical examination and findings on computed tomography imaging, subsequent histopathology and immunohistochemistry revealed an unexpected finding.

CONCLUSION

The case highlights the importance of clinical suspicion and histopathological evaluation as well as the need for greater awareness to facilitate early diagnosis and appropriate management of desmoid fibromatosis. We also present a literature review of varied presentations of desmoid tumors afflicting various subsites of the head and neck.

摘要

目的

头颈部硬纤维瘤病并不常见,因其具有非特异性特征,给临床医生带来了重大挑战。

方法

本病例报告聚焦于一名69岁男性,他前往印度卡纳塔克邦的一家三级医疗中心就诊,主诉口腔有肿物。

结果

尽管根据临床检查和计算机断层扫描成像结果最初怀疑为恶性肿瘤,但随后的组织病理学和免疫组织化学检查显示出意外的结果。

结论

该病例强调了临床怀疑和组织病理学评估的重要性,以及提高认识以促进硬纤维瘤病早期诊断和适当管理的必要性。我们还对累及头颈部各个亚部位的硬纤维瘤的不同表现进行了文献综述。

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Desmoid fibromatosis-a diagnostic dilemma.硬纤维瘤病——诊断难题
Eur Arch Otorhinolaryngol. 2024 Jun;281(6):3269-3278. doi: 10.1007/s00405-024-08558-4. Epub 2024 Mar 26.
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本文引用的文献

1
Isolated Infratemporal Fossa Desmoid Fibromatosis: A Rare Case Report and Review of Literature.孤立性颞下窝硬纤维瘤病:1例罕见病例报告及文献复习
Indian J Otolaryngol Head Neck Surg. 2022 Oct;74(Suppl 2):2609-2613. doi: 10.1007/s12070-020-02294-x. Epub 2021 Jan 3.
2
Current management and recent progress in desmoid tumors.韧带样型纤维瘤病的当前治疗与最新进展
Cancer Treat Res Commun. 2022;31:100562. doi: 10.1016/j.ctarc.2022.100562. Epub 2022 Apr 16.
3
Desmoid fibromatosis in the pharyngeal wall: A case report and literature review.
咽壁韧带样纤维瘤病:一例报告并文献复习
Clin Case Rep. 2022 Jan 7;10(1):e05268. doi: 10.1002/ccr3.5268. eCollection 2022 Jan.
4
Massive congenital cervicofacial desmoid-type fibromatosis in a 5-month-old infant.一名5个月大婴儿的巨大先天性颈面部硬纤维瘤病样纤维瘤病
J Surg Case Rep. 2021 May 27;2021(5):rjab206. doi: 10.1093/jscr/rjab206. eCollection 2021 May.
5
Oral Losartan After Limited Mandibulectomy for Treatment of Desmoid-Type Fibromatosis.下颌骨部分切除术后口服氯沙坦治疗韧带样型纤维瘤病
Ear Nose Throat J. 2023 Feb;102(2):NP49-NP52. doi: 10.1177/0145561320987641. Epub 2021 Jan 25.
6
A giant desmoid neck tumor: a case report.巨大型颈部硬纤维瘤:一例报告。
Braz J Otorhinolaryngol. 2021 Sep-Oct;87(5):634-637. doi: 10.1016/j.bjorl.2020.11.002. Epub 2020 Nov 29.
7
The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives.2020 年世界卫生组织软组织肿瘤分类:新闻与展望。
Pathologica. 2021 Apr;113(2):70-84. doi: 10.32074/1591-951X-213. Epub 2020 Nov 3.
8
Resection of a desmoid-type fibromatosis with a CTNNB1 p.S45P mutation using a cervico-thoracic approach: A case report and literature review.采用颈胸入路切除携带CTNNB1 p.S45P突变的韧带样型纤维瘤病:1例报告及文献复习
Auris Nasus Larynx. 2021 Aug;48(4):777-782. doi: 10.1016/j.anl.2020.05.004. Epub 2020 Jun 4.
9
Case of medullary thyroid carcinoma with desmoid-type fibromatosis.甲状腺髓样癌伴硬纤维瘤病 1 例。
Pathol Int. 2020 Jun;70(6):364-369. doi: 10.1111/pin.12926. Epub 2020 Apr 5.
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Giant Desmoid-Type Fibromatosis of the Neck: A Very Rare Infiltrating Tumor.颈部巨大硬纤维瘤样纤维瘤病:一种极为罕见的浸润性肿瘤。
Ear Nose Throat J. 2019 Oct-Nov;98(9):549-550. doi: 10.1177/0145561319825580. Epub 2019 Feb 4.