Osteosarcoma of the Mandible in a Patient with Florid Cemento-Osseous Dysplasia and Li-Fraumeni Syndrome: A Rare Coincidence.
Osteosarcoma of the Mandible in a Patient with Florid Cemento-Osseous Dysplasia and Li-Fraumeni Syndrome: A Rare Coincidence.
复制标题
下颌骨骨肉瘤伴华丽牙骨质发育不良和Li-Fraumeni综合征：罕见的巧合。
DOI：
10.1007/s12105-020-01223-2
复制
发表时间：
2021-06
影响因子：
2.1
通讯作者：
Baumhoer D
中科院分区：
文献类型：
--
作者：
Haefliger S;Harder D;Kovac M;Linkeschova K;Eufinger H;Baumhoer D
牙骨质发育不良（COD）是颌骨最常见的良性纤维骨性病变，通常被认为是非肿瘤性和自限性的。我们报告一位30岁的女性，在曲面断层片上发现她的后下颌骨双侧肿胀，并有不规则的根尖周矿化和不完全的牙根吸收。活组织检查显示血浓于水，未开始进一步治疗。9年后，她在4年和8年前接受双侧乳腺癌治疗后，出现左后下颌骨进行性扩张。CT扫描显示所有四个象限中的膨胀性和密集矿化病变，左后下颌骨显示颊侧皮质骨的局灶性穿透。活检显示左下颌骨为成骨细胞性高级别骨肉瘤，右下颌骨为骨肉瘤，梭形细胞成分中有明显的细胞增生。患者接受了左下颌骨节段性切除术，边缘清晰，并接受了辅助化疗。随后的基因检测确定了一个杂合子生殖系TP 53突变（p.V173G），证实了临床怀疑的李-弗劳梅尼综合征（LFS）。切除术后3年，患者无疾病，其他COD病灶在随访成像分析中大小保持稳定。我们的病例说明了LFS相关的骨肉瘤在华丽的COD内发展。鉴于这种巧合的罕见性，这两种病变之间的因果关系似乎不太可能，但在肿瘤易感综合征患者中，即使是良性病变（如COD）也应密切监测。
Cemento-osseous dysplasia (COD) is the most common benign fibro-osseous lesion of the jaws and generally considered non-neoplastic and self-limited. Here, we present a 30-year old female who noticed a bilateral swelling of her posterior mandible with irregular periapical mineralization and incomplete root resorption on panoramic radiographs. A biopsy revealed florid COD and no further treatment was initiated. 9 years later, she presented with a progressive expansion of her left posterior mandible after being treated for bilateral breast cancer 4 and 8 years before. CT scans showed expansile and densely mineralized lesions in all four quadrants with the left posterior mandible showing a focal penetration of the buccal cortical bone. Biopsies revealed an osteoblastic high-grade osteosarcoma in the left and a COD in the right mandible, notably with cellular atypia in the spindle cell component. The patient underwent segmental resection of the left mandible with clear margins and adjuvant chemotherapy. Subsequent genetic testing identified a heterozygous germline TP53 mutation (p.V173G) which confirmed the clinically suspected Li–Fraumeni syndrome (LFS). 3 years after the resection, the patient is free of disease and the other foci of COD remained stable in size on follow-up imaging analyses. Our case illustrates LFS-related osteosarcoma developing within florid COD. Given the rarity of this coincidence, a causative relation between the two lesions seems unlikely but in patients with tumor predisposition syndromes it might be advisable to closely monitor even benign lesions like COD.
登录
查看更多内容
影响因子：
2.1
作者：
Nelson, Brenda L.;Phillips, Billy J.
通讯作者：
Phillips, Billy J.
DOI：
10.1016/s1079-2104(99)70195-2
发表时间：
1999-07-01
影响因子：
--
作者：
Schneider, LC;Dolinsky, HB;Doyle, JL
通讯作者：
Doyle, JL
影响因子：
3.3
作者：
Alsufyani, N. A.;Lam, E. W. N.
通讯作者：
Lam, E. W. N.
影响因子：
4.8
作者：
Cheng, YSL;Wright, JM;Finn, MD
通讯作者：
Finn, MD
影响因子：
2.1
作者：
Lopes, Marcio Ajudarte;Kim, Hyun Sil;Vargas, Pablo Agustin
通讯作者：
Vargas, Pablo Agustin