Division of Pathology, Cancer Institute of Japanese Foundation for Cancer Research, Tokyo, Japan.
Department of Pathology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan.
Pathol Int. 2021 Aug;71(8):548-555. doi: 10.1111/pin.13106. Epub 2021 May 18.
Myofibroblastoma is a rare benign mesenchymal tumor typically arising in the breast. We report a diagnostically challenging case of myofibroblastoma of the breast showing a rare palisaded morphology and an uncommon desmin- and CD34-negative immunophenotype. A 73-year-old man underwent an excision for an 8 mm-sized breast mass. Histology revealed that the tumor was composed of fascicles of bland spindle cells showing prominent nuclear palisading and Verocay-like bodies. First, schwannoma, malignant peripheral nerve sheath tumor, and synovial sarcoma were suspected given the palisaded morphology. However, none of them was confirmed by immunohistochemical or molecular analyses. Next, a palisaded variant of myofibroblastoma was suspected by the morphology and coexpression of estrogen, progesterone and androgen receptors, BCL2 and CD10 in immunohistochemistry. However, the key diagnostic markers, desmin and CD34, were both negative. Finally, the diagnosis of myofibroblastoma was confirmed by detecting RB1 loss in immunohistochemistry and monoallelic 13q14 deletion (RB1 and FOXO1 loss) by fluorescence in situ hybridization assay. For the correct diagnosis of myofibroblastoma, it is important for pathologists to recognize the wide morphological spectrum, including a palisaded morphology, and the immunophenotypical variations, including desmin- and CD34-negative immunophenotypes, and to employ a comprehensive diagnostic analysis through combined histological, immunohistochemical and molecular evaluations.
肌纤维母细胞瘤是一种罕见的良性间叶性肿瘤,通常发生在乳房。我们报告了一例具有挑战性的乳房肌纤维母细胞瘤病例,其表现出罕见的栅状形态和不常见的结蛋白和 CD34 阴性免疫表型。一名 73 岁男性因 8 毫米大小的乳房肿块而行切除术。组织学显示肿瘤由束状的温和梭形细胞组成,具有明显的核栅状排列和 Verocay 样小体。首先,鉴于栅状形态,考虑到神经鞘瘤、恶性外周神经鞘肿瘤和滑膜肉瘤。然而,通过免疫组织化学或分子分析均未得到证实。接下来,通过形态学以及免疫组织化学中雌激素、孕激素和雄激素受体、BCL2 和 CD10 的共表达,怀疑为栅状型肌纤维母细胞瘤。然而,关键的诊断标志物结蛋白和 CD34 均为阴性。最后,通过免疫组织化学检测到 RB1 缺失以及荧光原位杂交检测到 13q14 单等位缺失(RB1 和 FOXO1 缺失),从而确诊为肌纤维母细胞瘤。为了正确诊断肌纤维母细胞瘤,病理学家重要的是要认识到广泛的形态学谱,包括栅状形态,以及免疫表型的变化,包括结蛋白和 CD34 阴性免疫表型,并通过组织学、免疫组织化学和分子评估的综合诊断分析来进行。