Soft tissue tumors : A basic research for improving the accuracy of pathologic diagnosis using immunohistochemical and cytogenetic analysis.

软组织肿瘤的诊断通常非常困难，因为它们表现出从反应性炎性病变到恶性肿瘤的广泛的组织学特征。我们对各种软组织肿瘤进行了研究，试图阐明它们的形态、免疫组织化学和细胞遗传学特征，并评价这些参数是否有助于软组织肿瘤的诊断。(1)我们的研究表明，皮肤纤维瘤的增殖室主要由间充质/成纤维细胞系组成，伴随着不同数量的正常反应性组织细胞。(2)上皮样肉瘤是一种来源不明的特殊软组织肿瘤，其特征是肿瘤细胞上皮样形态，共表达上皮性(角蛋白)和非上皮性(Vientin)抗原。我们发现了一个新的细胞遗传学异常，Der(22)t(18；22)(q11；p11.2)发生在一位75岁的…患者的肘部。更有身份的人。组织学上皮样细胞呈多结节状增殖，角蛋白、上皮膜抗原(EMA)和波形蛋白免疫染色阳性。由于18q11的断裂点与滑膜肉瘤中报道的相似，这一发现可能支持上皮样肉瘤和滑膜肉瘤之间存在组织遗传学关系。(3)肾原始神经外胚层肿瘤(PNET)非常罕见。虽然之前只报告了3例此类病例，但没有一例经细胞遗传学和分子生物学研究证实。我们报告了两例肾脏PNET，诊断是通过细胞遗传学和分子分析确定的。在每个肿瘤中，细胞遗传学原位杂交(染色体涂染)显示了PNET特有的t(11；22)(q24；q12)易位。1例表现为胎儿结局的患者有额外的1q和16q13缺失的染色体异常。(4)在对103例软组织和骨肿瘤的分析中，我们在6例低度软组织肿瘤中检测到额外的环状染色体，包括5例不典型脂肪瘤(ALT，1例)、高分化脂肪肉瘤4例[脂肪瘤样2例，硬化型1例，炎症型1例]和1例隆突性皮肤纤维肉瘤(DFSP)。我们的发现表明，多余的环染色体是包括ATL和DFSP在内的低级别软组织肿瘤的特征，细胞遗传学分析因此被证明有助于诊断此类低级别肿瘤的疑难病例。较少

The diagnosis of soft tissue tumors is often very difficult, since they show a wide spectrum of histologic features ranging from reactive inflammatory lesions to malignant tumors. We investigated various soft tissue tumors in an attempt to clarify their morphologic, immunohistochemical and cytogenetic characteristics and to evaluate whether these parameters are helpful in diagnosing difficult cases of soft tissue neoplasms.(1) Our study demonstrated that the proliferative compartment of dermatofibroma is composed chiefly of mesenchymal/fibroblastic lineage, accompanied by varying numbers of normal reactive histiocytes.(2) Epithelioid sarcoma is a peculiar soft-tissue neoplasm of uncertain origin, which is characterized by an epithelioid morphology of tumor cells coexpressing epithelial (keratin) and non-epithelial (vimentin) antigens. We found a new cytogenetic abnormality with der (22) t (18 ; 22) (q11 ; p11.2) in a case of epithelioid sarcoma that occurred in the elbow of a 75-year-o … More ld man. Histologically, the tumor demonstrated a multinodular proliferation of epithelioid cells, with positive immunostaining for keratin, epithelial membrane antigen (EMA), and vimentin. Since the breakpoint at 18q11 is similar to that reported in synovial sarcoma, this finding may support the presence of a histogenetic relationship between epithelioid sarcoma and synovial sarcoma.(3) Renal primitive neuroectodermal tumor (PNET) is very rare. Although only 3 such cases have been previously reported, none of them were confirmed by cytogenetic and melecular studies. We reported two cases of renal PNET,in which the diagnosis was established by both cytogenetic and molecular analysis. In each tumor, the cytogenetic analysis with in situ hybridization (chromosome painting) demonstrated reciprocal translocation t (11 ; 22) (q24 ; q12) specific to PNET.One patient presenting a fetal outcome had an additional chromosome abnormalities of extra 1q and deletion of 16q13. The RT-PCR in both tumors demonstrated EWS/FLI-1 fusion transcripts, representing the molecular equivalent of t (11 ; 22).(4) In an analysis of 103 soft-tissue and bone tumors, we detected supernumerary ring chromosomes in 6 cases of low-grade soft tissue tumors including 5 cases of atypical lipomatous tumors (ALT) (atypical intramuscular lipoma, 1 ; well differentiated liposarcoma, 4[lipoma-like type, 2 ; sclerosing type, 1 ; inflammatory type, 1]and one case of dermatofibrosarcoma protuberans (DFSP). Our findings suggest that supernumerary ring chromosomes are characteristic of low-grade soft tissue neoplasms including ATL and DFSP and that cytogenetic analysis is thus prove helpful in diagnosing such difficult cases of low-grade neoplasms. Less