Schoolmeester John Kenneth, Greipp Patricia T, Keeney Gary L, Soslow Robert A
Department of Laboratory Medicine and Pathology (J.K.S., P.T.G., G.L.K.), Mayo Clinic, Rochester, Minnesota Department of Pathology (R.A.S.), Memorial Sloan-Kettering Cancer Center, New York, New York.
Int J Gynecol Pathol. 2015 Sep;34(5):437-44. doi: 10.1097/PGP.0000000000000171.
Hemangiomas of the ovary are rare with a majority described as individual reports of unusual clinical presentations or morphologic findings. Both the expected and unexpected pathologic features of these tumors in the ovary are not well detailed. Therefore, we collected the largest series of ovarian hemangiomas to comprehensively define their clinicopathologic associations and examine the significance of hormone receptors in their pathogenesis. In addition, a novel EWSR1-NFATC1 fusion has recently been described in a case of hemangioma of bone. To our knowledge, EWSR1 rearrangement has not been evaluated in hemangiomas of other sites or in a case series. Accordingly, we used fluorescence in situ hybridization to investigate EWSR1 status in a majority of our cases. Clinical presentation was variable and dependent on tumor size. Patient age ranged 48 to 87 yr (median 63 yr). Tumors involved the right (n=6) and left (n=3) ovaries with laterality unknown in 1 case, and size ranged from 0.2 to 5.0 cm (median 1.0 cm). Three of 4 radiologic reports were either equivocal or could not exclude malignancy. Seven cases were of the cavernous type and 3 were mixed cavernous and capillary type. All lesions formed a single discrete, circumscribed mass that displaced the surrounding cortical stroma. The cavernous type showed dilated, thin-walled vessels and vascular thrombi, some of which were associated with dystrophic calcification. In addition to cavernous morphology, the mixed form exhibited features of capillary hemangioma such as lobulated growth of capillary-sized vascular spaces that lacked atypia or multilayering and were linked to a larger feeding vessel. Each tumor expressed CD31, CD34, FLI-1, ERG, but not D240. The hemangioma stromal cells, but not endothelium, expressed estrogen and progesterone receptors in every case. Stromal luteinization was seen in 2 cases. Follow-up ranged 1 to 139 mo and all patients were disease free. All cases were negative for EWSR1 rearrangement; however, 2 cases demonstrated additional intact copies of EWSR1 indicating aneusomy 22 or a structural abnormality of chromosome 22 resulting in apparent duplication of the EWSR1 gene region (at 22q12). Although an uncommon entity, awareness of ovarian hemangioma's unique and diverse clinical presentation as well as its potential to radiologically imitate malignant ovarian neoplasms are important.
卵巢血管瘤较为罕见，大多数病例仅作为个别报道，描述了其不寻常的临床表现或形态学特征。这些肿瘤在卵巢中的预期和意外病理特征均未得到详细阐述。因此，我们收集了最大系列的卵巢血管瘤病例，以全面确定其临床病理关联，并研究激素受体在其发病机制中的意义。此外，最近在一例骨血管瘤中描述了一种新的EWSR1-NFATC1融合基因。据我们所知，EWSR1重排在其他部位的血管瘤或病例系列中尚未得到评估。因此，我们使用荧光原位杂交技术对大多数病例的EWSR1状态进行了研究。临床表现各异，取决于肿瘤大小。患者年龄在48至87岁之间（中位数为63岁）。肿瘤累及右侧卵巢6例、左侧卵巢3例，1例患者的肿瘤部位不详，肿瘤大小在0.2至5.0厘米之间（中位数为1.0厘米）。4份放射学报告中有3份模棱两可或无法排除恶性肿瘤。7例为海绵状型，3例为海绵状和毛细血管混合型。所有病变均形成单个离散的、边界清晰的肿块，推移周围的皮质基质。海绵状型表现为扩张的薄壁血管和血管内血栓，部分血栓伴有营养不良性钙化。除了海绵状形态外，混合型还表现出毛细血管瘤的特征，如毛细血管大小的血管腔呈分叶状生长，无细胞异型性或复层结构，且与较大的供血血管相连。每个肿瘤均表达CD31、CD34、FLI-1、ERG，但不表达D240。在每例病例中，血管瘤的基质细胞而非内皮细胞表达雌激素和孕激素受体。2例出现基质黄素化。随访时间为1至139个月，所有患者均无疾病。所有病例的EWSR1重排均为阴性；然而，2例病例显示EWSR1有额外的完整拷贝，提示22号染色体三体或22号染色体结构异常导致EWSR1基因区域（位于22q12）明显重复。尽管卵巢血管瘤是一种罕见疾病，但了解其独特多样的临床表现以及在放射学上模仿恶性卵巢肿瘤的可能性很重要。
