Malignant transformation of craniofacial fibrous dysplasia: A clinicopathological, immunohistochemical and molecular analysis of 15 cases in one single institution.

IF 2.2 3区医学 Q2 Dentistry

Journal of Stomatology Oral and Maxillofacial Surgery Pub Date : 2024-09-30 DOI:10.1016/j.jormas.2024.102098

Limin Liu, Jingjing Sun, Shengwen Liu, Chunye Zhang, Jiang Li

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引用次数: 0

Abstract

Objective: Malignant transformation of craniofacial fibrous dysplasia (FD) is not common and its clinicopathological as well as molecular characteristics remain largely unknown with limited literature reports.

Study design: Patients diagnosed with FD including McCune-Albright syndrome (MAS), polyostotic fibrous dysplasia (PFD), and monostotic fibrous dysplasia (MFD), accompanied by malignant transformation at our institution over the past 18 years (2005-2023) were retrospectively screened and analyzed to investigate the epidemiology and clinicopathological features of these tumors.

Results: Three hundred and five patients were diagnosed as FD in our hospital from 2005 to 2023, with 176 females (57.7 %) and 129 males (42.3 %). The average age at diagnosis was 28.35 years, ranging from 7 to 70 years. A total number of 15 (4. 9 %) cases of FD with malignant transformation were selected. Among these 15 patients, the age of the initial diagnosis of FD ranged from 6 to 54 years (mean age 28.87 ± 16.77), and the ages when malignant transformation occurred ranged from 18 to 57 years (mean age 38.53 ± 13.05). Among 15 patients, 12 patients were female (80 %) and 3 were male (20 %). Fifteen cases included MSA in 2 patients, PFD in 4 patients, and MFD in 9 patients. Of the anatomical sites in craniofacial bones, the most common site of the lesion was the maxilla, followed by the mandible. Malignant neoplasm arising in FD were osteosarcoma (12/15), chondrosarcoma (1/15) and high-grade sarcoma of uncertain differentiation (2/15). The 3- and 5-year overall survival rate was 33.3 % (5/15) and 20 % (3/15) respectively. In secondary osteosarcoma from FD, MDM2 and CDK4 positivity were 33.3 % and 41.7 % respectively, and only one case was MDM2-amplified and CDK4-amplified.

Conclusion: Malignant transformation in fibrous dysplasia was an exceedingly rare event and with a female predominance. The overall survival rate was poor. Osteosarcoma was the most common malignant neoplasm arising in FD. MDM2 and CDK4 expression may aid in the diagnosis of secondary osteosarcoma in FD.

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颅面纤维性发育不良的恶性转化：对一家机构 15 个病例的临床病理学、免疫组织化学和分子分析。

研究目的颅面纤维发育不良（FD）的恶性转化并不常见，其临床病理学和分子特征在很大程度上仍不为人所知，文献报道也很有限：研究设计：回顾性筛选并分析过去18年（2005-2023年）在我院确诊的FD患者，包括麦库恩-阿尔布莱特综合征（MAS）、多形性纤维发育不良（PFD）和单形性纤维发育不良（MFD），并伴有恶性转化，以研究这些肿瘤的流行病学和临床病理学特征：2005年至2023年，我院共有355名患者被诊断为FD，其中女性176人（57.7%），男性129人（42.3%）。确诊时的平均年龄为28.35岁，从7岁到70岁不等。共选取了 15 例（4.9%）伴有恶性转化的 FD 患者。在这 15 例患者中，初诊 FD 的年龄为 6 至 54 岁（平均年龄为（28.87±16.77）岁），发生恶变的年龄为 18 至 57 岁（平均年龄为（38.53±13.05）岁）。15 例患者中，12 例为女性（80%），3 例为男性（20%）。15 例患者中，2 例为 MSA，4 例为 PFD，9 例为 MFD。在颅面部骨骼的解剖部位中，最常见的病变部位是上颌骨，其次是下颌骨。颅颌面骨中出现的恶性肿瘤包括骨肉瘤（12/15）、软骨肉瘤（1/15）和分化不明确的高级别肉瘤（2/15）。3年和5年总生存率分别为33.3%（5/15）和20%（3/15）。在FD继发性骨肉瘤中，MDM2和CDK4阳性率分别为33.3%和41.7%，只有1例出现MDM2扩增和CDK4扩增：结论：纤维性发育不良的恶性转化极为罕见，且女性居多。总生存率很低。骨肉瘤是纤维发育不良最常见的恶性肿瘤。MDM2和CDK4的表达可能有助于FD继发性骨肉瘤的诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Stomatology Oral and Maxillofacial Surgery Dentistry-Oral Surgery

CiteScore

2.20

自引率

9.10%

发文量

305

期刊介绍： J Stomatol Oral Maxillofac Surg publishes research papers and techniques - (guest) editorials, original articles, reviews, technical notes, case reports, images, letters to the editor, guidelines - dedicated to enhancing surgical expertise in all fields relevant to oral and maxillofacial surgery: from plastic and reconstructive surgery of the face, oral surgery and medicine, … to dentofacial and maxillofacial orthopedics. Original articles include clinical or laboratory investigations and clinical or equipment reports. Reviews include narrative reviews, systematic reviews and meta-analyses. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. The journal is indexed in the main international databases and is accessible worldwide through the ScienceDirect and ClinicalKey Platforms.