Suzuki Shioto, Tanioka Fumihiko, Minato Hiroshi, Ayhan Ayse, Kasami Masako, Sugimura Haruhiko
Division of Pathology, Iwata City Hospital, Japan.
Division of Pathology, Iwata City Hospital, Japan.
Pathol Res Pract. 2014 Feb;210(2):130-4. doi: 10.1016/j.prp.2013.09.009. Epub 2013 Sep 26.
Described herein is the first reported case of a uterine angiosarcoma with breakages at three loci, YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). A 62-year-old postmenopausal woman was found to have endometrial thickening of her uterus. An endometrial biopsy indicated a malignant, spindle cell neoplasm. A total hysterectomy with bilateral salpingooophorectomy was performed. Histologic examination of the uterine specimen showed a malignant tumor consisting of irregular rudimentary vascular channels and solid small nests diffusely infiltrating to the middle of the myometrial wall. The tumor cells were epithelioid, and displayed eosinophilic cytoplasm and vesicular nuclei in some areas of the tumor. Immunohistochemically, the tumor cells showed vascular differentiation; they were diffusely positive for CD31 and D2-40 but were negative for factor VIII and CD34. In the course of the procedure of differential diagnoses, we included fluorescence in situ hybridization analysis for detection of a FAM22B-YWHAE fusion gene resulting from t(10;17)(q22;p13), recently reported in a series of endometrial stromal sarcoma, and unexpectedly identified breakages at three loci, i.e. YWHAE (17p13), FAM22A (10q23) and FAM22B (10q22). Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma.
本文报道了首例子宫血管肉瘤病例，该病例在三个位点YWHAE（17p13）、FAM22A（10q23）和FAM22B（10q22）出现断裂。一名62岁的绝经后女性被发现子宫内膜增厚。子宫内膜活检显示为恶性梭形细胞瘤。遂行全子宫切除术及双侧输卵管卵巢切除术。子宫标本的组织学检查显示为恶性肿瘤，由不规则的原始血管腔隙和实性小巢组成，弥漫性浸润至子宫肌层中部。肿瘤细胞呈上皮样，在肿瘤的某些区域显示嗜酸性细胞质和泡状核。免疫组化显示，肿瘤细胞具有血管分化；CD31和D2-40弥漫性阳性，但VIII因子和CD34阴性。在鉴别诊断过程中，我们进行了荧光原位杂交分析，以检测因t(10;17)(q22;p13)产生的FAM22B-YWHAE融合基因，该基因最近在一系列子宫内膜间质肉瘤中报道过，结果意外地发现了三个位点的断裂，即YWHAE（17p13）、FAM22A（10q23）和FAM22B（10q22）。总体而言，这些发现表明，已知与子宫内膜间质肉瘤肿瘤发生相关的YWHAE、FAM22A和FAM22B位点的异常可能与子宫血管肉瘤的发生有关。
