A cytogenetic and pathologic study on soft tissue tumors

1)部分低度恶性软组织肿瘤：非典型脂肪瘤和皮肤纤维肉瘤结节前突瘤，共123例软组织肿瘤标本中制备了多环染色体切片，6例软组织肿瘤（包括5例非典型脂肪瘤）中发现多环染色体[非典型肌内脂肪瘤，1例；高分化脂肪肉瘤4例（脂肪瘤样2例，硬化型1例，炎症型1例），隆突性皮肤纤维肉瘤1例。采用荧光原位杂交（FISH）染色技术，用12号染色体探针对1号ALT的环状染色体进行了全长度的染色。我们的研究结果表明，包括ALT和dfsp在内的一些低级别软组织肿瘤的特征是多环染色体。2)前列腺滑膜肉瘤伴t(X; 18)（p11.2; q11.2）滑膜肉瘤是一种来源不明的肿瘤，尽管这种肿瘤在临床上是一种…More y和形态学明确的实体，已被证明占所有软组织肉瘤的8%。t(X; 18)（p11.2; q11.2）和SYT-SSX的细胞遗传学和RT-PCR检测被认为是滑膜肉瘤高度敏感的诊断标志物。使用这些技术，我们可以诊断发生在前列腺的原发性滑膜肉瘤。3)原发性神经外胚层肿瘤（PNET）在肾脏中非常罕见。我们报告了两例肾脏PNET，其中诊断是建立在细胞遗传学和分子分析。在每个肿瘤中，细胞遗传学分析与原位杂交（染色体绘画）显示了PNET特异性的互惠易位t(11; 22)（q24; q12）。两种肿瘤的RT-PCR均显示EWS/FLI-1融合转录物，代表t的分子等效物（11;22）。4)间期荧光原位杂交（FISH）技术检测嵌合基因应用于小圆细胞肿瘤石蜡包埋组织样品的FISH技术，我们在PNET和E翼肉瘤的间期细胞核中检测到嵌合EWS-FLI1。该技术可用于儿童和青少年小细胞肿瘤的准确诊断和鉴别诊断。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