Epithelioid hemangioma of bone harboring FOS and FOSB gene rearrangements: A clinicopathologic and molecular study.
Epithelioid hemangioma of bone harboring FOS and FOSB gene rearrangements: A clinicopathologic and molecular study.
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含有 FOS 和 FOSB 基因重排的骨上皮样血管瘤：临床病理学和分子研究。
DOI：
10.1002/gcc.22898
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Antonescu CR
中科院分区：
文献类型：
--
作者：
Tsuda Y;Suurmeijer AJH;Sung YS;Zhang L;Healey JH;Antonescu CR
上皮样血管瘤（EH）的诊断仍然具有挑战性，因为它的罕见性，令人担忧的组织学特征和局部侵袭性的临床和影像学表现。特别是在骨中，EH可由于其溶解性、通常破坏性或多灶性生长以及非典型形态而被误诊为恶性血管肿瘤。在大多数EH的发病机制中发现复发性FOS和FOSB基因融合，加强了其独立的分类，与其他恶性上皮样血管病变，如上皮样血管内皮瘤或血管肉瘤不同。在这项研究中，我们调查了一组分子证实的骨骼EH的FOS或FOSB基因重排的存在，以更好地确定其临床和病理特征在一个同质的分子子集。该队列包括38名患者（25名男性，13名女性），诊断时的平均年龄为38岁（范围，4-75岁）。在10例病例中观察到区域性多灶性表现。仅6例被转诊机构正确诊断为EH，而大多数被误诊为其他血管肿瘤。在有随访数据的17例患者中，5例患者（29%）在边缘整块切除术（n = 3）或刮除术（n = 2）后发生局部复发。局部无复发生存率3年为84%，5年为38%。未发现转移或疾病相关死亡。影像学检查无特异性表现，14例（38%）显示皮质骨破坏和软组织延伸。FOS基因重排28例（74%），FOSB基因重排10例（26%）。我们的研究结果强调了在建立正确的诊断排除分子检测，主要是由于其重叠的其他恶性上皮样血管肿瘤所遇到的重大挑战。原发性高血压是一种遗传学定义的局部侵袭性血管肿瘤，局部复发率高，但缺乏远处扩散的倾向。
The diagnosis of epithelioid hemangioma (EH) remains challenging due to its rarity, worrisome histologic features and locally aggressive clinical and radiographic presentation. Especially in the bone, EH can be misdiagnosed as a malignant vascular neoplasm due its lytic, often destructive or multifocal growth, as well as atypical morphology. The discovery of recurrent FOS and FOSB gene fusions in the pathogenesis of most EH has strengthened its stand-alone classification, distinct from other malignant epithelioid vascular lesions, such as epithelioid hemangioendothelioma or angiosarcoma. In this study we investigate a group of molecularly confirmed skeletal EH by the presence of FOS or FOSB gene rearrangements to better define its clinical and pathologic characteristics within a homogenous molecular subset. The cohort included 38 patients (25 males, 13 females), with a mean age at diagnosis of 38 years (range, 4–75). Regional, multifocal presentation was noted in 10 cases. Only six cases were correctly recognized as EH by the referring institutions, while most were misdiagnosed as other vascular tumors. Of the 17 patients with follow-up data available, 5 patients (29%) developed local recurrence after marginal en bloc excision (n = 3) or curettage (n = 2). Local recurrence-free survival rates were 84% at 3 years and 38% at 5 years. No metastasis or disease-related death was identified. Imaging studies exhibited no specific features, showing cortical bone destruction and soft-tissue extension in 14 (38%) cases. FOS gene rearrangements were detected in 28 (74%) of cases, while FOSB rearrangements in 10 (26%) cases. Our results highlight the significant challenges encountered in establishing a correct diagnosis exclusive of the molecular testing, mainly due to its overlap to other malignant epithelioid vascular tumors. Skeletal EH emerges as a genetically defined locally aggressive vascular neoplasm, with a high rate of local recurrence, but lacking the propensity for distant spread.
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影响因子：
3.7
作者：
Guo, Tianhua;Zhang, Lei;Chang, Ning-En;Singer, Samuel;Maki, Robert G.;Antonescu, Cristina R.
通讯作者：
Antonescu, Cristina R.
影响因子：
3.7
作者：
Antonescu, Cristina R.;Chen, Hsiao-Wei;Fletcher, Christopher D.
通讯作者：
Fletcher, Christopher D.
影响因子：
5.3
作者：
CHEN, CYA;CHEN, TM;SHYU, AB
通讯作者：
SHYU, AB
DOI：
10.1073/pnas.96.17.9671
发表时间：
1999-08-17
影响因子：
11.1
作者：
Marconcini, L;Marchio, S;Oliviero, S
通讯作者：
Oliviero, S
影响因子：
16.6
作者：
Fittall MW;Mifsud W;Pillay N;Ye H;Strobl AC;Verfaillie A;Demeulemeester J;Zhang L;Berisha F;Tarabichi M;Young MD;Miranda E;Tarpey PS;Tirabosco R;Amary F;Grigoriadis AE;Stratton MR;Van Loo P;Antonescu CR;Campbell PJ;Flanagan AM;Behjati S
通讯作者：
Behjati S