A cytogenetic and pathologic study on soft tissue tumors

1)部分低度恶性软组织肿瘤：非典型脂肪瘤样肿瘤和隆突性皮肤纤维肉瘤的染色体和核泡。从123例软组织肿瘤标本中制备染色体。6例软组织肿瘤中发现超数环状染色体6例，其中非典型脂肪瘤5例[不典型肌内脂肪瘤1例，高分化脂肪肉瘤4例(脂肪瘤样2例，硬化型1例，炎性1例)]，隆起皮肤纤维肉瘤1例。用荧光原位杂交技术(FISH)进行染色体染色，用12号染色体探针将一条ALT中的环状染色体绘制成全长。我们的发现表明，多余的环形染色体是包括ALT和…在内的一些低级别软组织肿瘤的特征。2)带有t(X；18)的前列腺滑膜肉瘤(p11.2；q11.2)是一种来源不明的肿瘤，尽管这种肿瘤是临床上常见的DFSP更多的y和形态清晰的实体，已被证明占所有软组织肉瘤的8%。细胞遗传学和RT-PCR检测t(X；18)(p11.2；q11.2)和SYT-SSX被认为是滑膜肉瘤高度敏感的诊断指标。利用这些技术，我们可以诊断发生在前列腺的原发性滑膜S肉瘤。3)原始神经外胚层肿瘤(PNet)Pnet在肾脏中非常罕见。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(染色体保留)分析显示Pnet特异的t(11；22)(q24；q12)易位。RT-PCR在两种肿瘤中均检测到EWS/FLI-1融合转录本，相当于t(11；22)。4)间期荧光原位杂交(FISH)检测嵌合基因应用于小圆细胞肿瘤石蜡包埋组织标本，我们检测了PNET和E翼肉瘤间期细胞核中的嵌合EWS-FLI1。该技术可用于儿童和青壮年小细胞肿瘤的准确诊断和鉴别诊断。较少

1) Supernumeraryring chromosomeand nuclear blebsin some low-grade malignant soft tissue tumors : atypical lipomatous tumorsand dermatofibrosarcoma protuberansChromosomeslides were prepared from 123 samples of soft tissue tumors Supernumeraryring chromosomeswere foundin 6 cases of 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). By chromosome painting with fluorescence in situ hybridization (FISH), the ring chromosomein one ALT was painted over its entire length with the chromosome 12 probe. Our findings suggest that supernumeraryring chromosomes are characteristic of somelow-grade soft tissue neoplasms including ALT and DFSP.2) Synovial sarcoma of the prostate with t(X ; 18)(p11.2 ; q11.2)Synovial sarcoma is a tumor of unknown origin, although this neoplasm is a clinicall … More y and morphologically well-defined entity that has been shown to comprise 8% of all soft tissue sarcomas. The cytogenetic and RT-PCR detection of t(X ; 18)(p11.2 ; q11.2) and SYT-SSX is considered to be a highly sensitive diagnostic marker for synovial sarcoma. Using these techniques, we could diagnose a primary synovial s sarcoma occurring in the prostate.3) Primitive neuroectodermaltumor (PNET)PNET is very rare in the kidney. 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 (chromosomepainting) demonstrated reciprocal translocation t(11 ; 22)(q24 ; q12) specific to PNET. The RT-PCR in both tumors demonstrated EWS/FLI-1 fusion transcripts, representing the molecular equivalent of t(11 ; 22).4) Interphase fluorescence in situ hybridization (FISH) for the detection of chimeric genesBy using FISH technique applied in paraffin-embedded tissue samples of small roundcell tumors, we have detected chimeric EWS-FLI1 in interphase nuclei of PNET and E wing sarcomas. This technique may be utilized for the accurate diagnosis and differential diagnosis of small cell tumorsin children and young adults. Less