Loss of Retinoblastoma Protein Expression in Spindle Cell/Pleomorphic Lipomas and Cytogenetically Related Tumors: An Immunohistochemical Study With Diagnostic Implications
Loss of Retinoblastoma Protein Expression in Spindle Cell/Pleomorphic Lipomas and Cytogenetically Related Tumors: An Immunohistochemical Study With Diagnostic Implications
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DOI：
10.1097/pas.0b013e31825d532d
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发表时间：
2012-08-01
影响因子：
5.6
通讯作者：
Hornick, Jason L.
中科院分区：
文献类型：
--
作者：
Chen, Benjamin J.;Marino-Enriquez, Adrian;Hornick, Jason L.
在梭形细胞和多形性脂肪瘤中，染色体13q和16q的重排是一致的。乳腺型肌成纤维细胞瘤和细胞血管纤维瘤表现出重叠的组织学特征和相似的染色体缺失，提示这两种肿瘤类型之间可能存在联系。编码视网膜母细胞瘤（Rb）蛋白的肿瘤抑制基因RB1位于纺锤形细胞脂肪瘤中最小缺失区域的13q14。本研究的目的是通过免疫组织化学检测Rb在梭形细胞脂肪瘤、多形性脂肪瘤、乳腺型肌纤维母细胞瘤和细胞血管纤维瘤以及组织学模拟中的表达，以确定其潜在的诊断价值。194例肿瘤的全组织切片：梭形细胞脂肪瘤18例，多形性脂肪瘤20例，乳腺型肌纤维母细胞瘤19例，细胞血管纤维瘤16例，常规脂肪瘤22例（8例肌内），非典型脂肪瘤18例（均为MDM2和CDK4阳性），孤立性纤维瘤19例，黏液样脂肪肉瘤19例，膜瘤14例，深部（侵袭性）血管粘液瘤11例，血管肌纤维母细胞瘤9例，外阴纤维上皮间质息肉9例。用小鼠抗rb单克隆抗体进行高压锅抗原提取后免疫组化。Rb核染色评分为“完整”或“缺失”。Rb在所有梭形细胞脂肪瘤、多形性脂肪瘤和细胞性血管纤维瘤以及17例（89%）乳腺型肌成纤维细胞瘤中表达不足。细胞性血管纤维瘤伴反应性基质改变时，Rb染色有时难以解释。在2例（9%）常规脂肪瘤中也缺乏Rb。Rb在所有其他肿瘤类型中表达完整。综上所述，在与13q缺失相关的软组织肿瘤中，所有梭形细胞脂肪瘤、多形性脂肪瘤、细胞性血管纤维瘤和大多数乳腺型肌成纤维细胞瘤均表现Rb表达缺失。在组织学模拟中Rb的表达是完整的。这些发现加强了这组肿瘤之间的发病关系，并证明了免疫组织化学对Rb的潜在诊断作用。
Consistent rearrangements of chromosomes 13q and 16q have been identified in spindle cell and pleomorphic lipomas by cytogenetics. Mammary-type myofibroblastoma and cellular angiofibroma show overlapping histologic features and similar chromosomal losses, suggesting a possible relationship among these tumor types. The tumor suppressor gene RB1, encoding the retinoblastoma (Rb) protein, is located at 13q14, within a minimally deleted region in spindle cell lipoma. The purpose of this study was to examine expression of Rb by immunohistochemistry in spindle cell lipoma, pleomorphic lipoma, mammary-type myofibroblastoma, and cellular angiofibroma, and in histologic mimics, to determine its potential diagnostic utility. Whole-tissue sections of 194 tumors were evaluated: 18 spindle cell lipomas, 20 pleomorphic lipomas, 19 mammary-type myofibroblastomas, 16 cellular angiofibromas, 22 conventional lipomas (8 intramuscular), 18 atypical lipomatous tumors (all positive for MDM2 and CDK4), 19 solitary fibrous tumors, 19 myxoid liposarcomas, 14 hibernomas, 11 deep (aggressive) angiomyxomas, 9 angiomyofibroblastomas, and 9 vulval fibroepithelial stromal polyps. Immunohistochemistry was performed after pressure cooker antigen retrieval using a mouse anti-Rb monoclonal antibody. Nuclear staining for Rb was scored as "intact" or "deficient." Rb expression was deficient in all spindle cell lipomas, pleomorphic lipomas, and cellular angiofibromas and in 17 (89%) mammary-type myofibroblastomas. Rb staining was sometimes difficult to interpret in cellular angiofibromas with reactive stromal changes. Rb was also deficient in 2 (9%) conventional lipomas. Rb expression was intact in all other tumor types evaluated. In summary, of the soft tissue tumors associated with 13q deletions, all spindle cell lipomas, pleomorphic lipomas, and cellular angiofibromas and most mammary-type myofibroblastomas show loss of Rb expression. Rb expression is intact in histologic mimics. These findings reinforce the pathogenetic relationship among this group of tumors and demonstrate the potential diagnostic utility of immunohistochemistry for Rb.