Affiliated Hospital of Guangdong Medical University
目的：侵袭性纤维瘤病又称韧带样型纤维瘤病、韧带样瘤（desmoid tumor）、分化良好的非转移性纤维肉瘤、Ⅰ型纤维肉瘤。AF最早于1954年由Stout提出并明确诊断。2013 年 WHO 将其归类为成纤维细胞/肌成纤维细胞性肿瘤中的具有局部侵袭性的中间性肿瘤，分为腹外型、腹壁型、腹内型三种，发生在头颈部的AF属于腹外型的一种亚型，极为少见，约占全身AF的6%-8%。其高复发性和无远处转移是其显著特征。本文报道1例对我科收治的高龄1例头颈部罕见巨大巨大AF（腹外型）的MDT协作临床诊治过程及短期预后短期预后进行总结分析。 方法：1例女性，86岁患者，因颈部巨大肿物5年，穿刺活检为侵袭性纤维瘤病诊断，术前发现严重心律失常，多源性室早伴二联律三联律，MDT讨论后行心脏射频消融术后，全麻手术切除巨大颈部肿物。 结果：术后患者未出现手术并发症，术后见束状排列的梭形细胞，细胞形态温和，核染色质疏松或空泡状，可见小核仁，Beta-catenin（局灶核+），LEF-1(灶+),S-100(-),Ki67（热点区域约5%）；FISH：CTNNB1(3p22）基因缺失（+），符合侵袭性纤维瘤病。术后顺利出院，未行放化疗，短期随访半年无复发。 结论：头颈部巨大AF（腹外型）罕见，临床表现无特异性，肿瘤呈侵袭性生长，易复发，需要依靠病理学明确诊断，目前临床上手术彻底切除为该病最佳治疗方案。本例患者病史时间长，由于高龄，长期严重心率失常，导致肿瘤体积较小的时候错过最佳手术时机，并进行“射频消融”，导致肿物体积在刺激状态下迅速增大，我科团队在围手术期充分的MDT讨论后制定了最优化的诊治方案，在保证围手术期安全的基础上完整切除肿物，取得了明显的临床效果及治疗的最大获益。
Objective: Aggressive fibromatosis, also known as desmoid fibromatosis, desmoid tumor, well-differentiated non-metastatic fibrosarcoma, and type Ⅰ fibrosarcoma, is a rare and aggressive form of fibromatosis. AF was first proposed and definitively diagnosed by Stout in 1954. In 2013, WHO classified it as a locally aggressive intermediate tumor of fibroblast/myofibroblast tumors, which can be divided into three types: extra-abdominal type, abdominal wall type and intra-abdominal type. AF occurring in the head and neck belongs to a subtype of extra-abdominal type, which is extremely rare, accounting for about 6%-8% of total AF. Its high recurrence rate and absence of distant metastasis are notable features. This article reports a case of an elderly patient with rare huge AF in the head and neck (extraabdominal type) who was admitted to our department. The clinical diagnosis and treatment process and short-term prognosis of MDT collaboration were summarized and analyzed. Methods: A female patient, 86 years old, was diagnosed with a huge neck mass for 5 years. Puncture biopsy showed aggressive fibromatosis. Severe arrhythmia, multifocal premature ventricular contractions with double and triple beats were found before surgery. Results: There were no postoperative complications in the patients. The spindle cells arranged in fasciculation were mild in morphology, with loose or vacuolated nuclear chromatin, small nucleoli, Beta-catenin (focally +), LEF-1(focally +),S-100(-),Ki67 (about 5% in hot area). FISH showed CTNNB1(3p22) gene deletion (+), which was consistent with aggressive fibromatosis. The patient was discharged without radiotherapy or chemotherapy. There was no recurrence during a short-term follow-up of half a year. Conclusions: Giant AF in head and neck (extraabdominal type) is rare and has no specific clinical manifestations. The tumor is invasive and prone to recurrence. Due to the advanced age and long-term severe arrhythmia, the best opportunity for surgery was missed when the tumor volume was small, and radiofrequency ablation was performed, resulting in the tumor volume increased rapidly in the stimulated state. Our team formulated the optimal diagnosis and treatment plan after sufficient MDT discussion during the perioperative period. Complete resection of the tumor on the basis of ensuring perioperative safety has achieved obvious clinical effect and maximum benefit of treatment.