Chromosomal Translocations in Human Soft Tissue Sarcomas : Fluorescence in Situ Hydridization as a Diagnostic Aid

人类软组织肉瘤中的染色体易位：荧光原位杂交作为诊断辅助手段

• 批准号: 08670203
• 负责人: YOSHIDA Haruhiko
• 金额: $ 1.41万
• 依托单位: Tottori University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1998
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08670203/
• 关键词: soft tissue sarcoma; paraffin-block; chromosome; translocation; fluorescence in situ hybridization (FISH); 染色体異常; マルチカラーFISH法

To evaluate fluorescence in stu hybridization (FISH) findings of soft tissue sarcomas and clarify the relation between their hisological tumor types and chromosomal rearrangements, we examined three kinds of translocations in the interphase nuclei isolated from paraffin-embedded tissues of 47 soft tissue sarcomas. Translocations were evaluated using chromosome-specific DNA probes of centromeric and whole painting probes.Of 47 soft tissue sacomas, 42 (89.4%) revealed timor-specific translocations by etrospective chromosomal analysis. Translocation t(X ; 1 8) was detected in 25/28 synovi al sarcomas ; translocation t(11 ; 22) in 5/6 Ewing's sarcomas and primitive neuroectodermal tumors (PNET) ; and translocation t(12 ; 16) was found in 12/13 liposarcomas (LPS), including 10 myxoid and 2 round cell types as don aichrom osoma I aberrations specific for both subtypes.Based on these findings, Ewing's sarcoma is related closely with PNET originating in neuroectodermal tissue. Other cytogenetic finding of translocation t(12 ; 16) indicates the round cell liposarcoma shares chromosomal change with myxoid LPS, and further suggests that both tumors may possess common prcursor cells.Karyotypic analysis was performed on a case of chondromyxoid fibroma arising in 42-year-old, female and revealed a complex pattern of chromosomal abberation including t(1 ; 12).

为了评估软组织肉瘤的荧光 Stu 杂交 (FISH) 结果并阐明其组织学肿瘤类型与染色体重排之间的关系，我们检查了从 47 个软组织肉瘤石蜡包埋组织中分离出的间期核中的三种易位。使用着丝粒染色体特异性 DNA 探针和全涂探针评估易位。在 47 个软组织肉瘤中，42 个 (89.4%) 通过回顾性染色体分析揭示了帝汶特异性易位。在 25/28 滑膜肉瘤中检测到易位 t(X ; 1 8) ； 5/6 尤文氏肉瘤和原始神经外胚层肿瘤 (PNET) 中的易位 t(11 ; 22) ；在 12/13 脂肪肉瘤 (LPS) 中发现了易位 t(12 ; 16)，包括 10 种粘液样细胞和 2 种圆形细胞类型，作为这两种亚型特异的 Don aichrom osoma I 畸变。基于这些发现，尤文氏肉瘤与 PNET 密切相关起源于神经外胚层组织。 t(12 ; 16)易位的其他细胞遗传学发现表明圆细胞脂肪肉瘤与粘液样LPS共有染色体改变，并进一步提示两种肿瘤可能具有共同的前体细胞。对一例42年发生的软骨粘液样纤维瘤进行核型分析-老年、女性，并显示出复杂的染色体畸变模式，包括 t(1；12)。

项目成果

Yoshida H,Nagao K,Endo H,Ito H: "Search for Chromosomal Translocation by Fluorescence in Situ Hybridization Method (in Japanese)" Pathol Clin Med. 16 (2). 156-160 (1998)

Yoshida H、Nagao K、Endo H、Ito H：“通过荧光原位杂交方法寻找染色体易位（日语）”Pathol Clin Med。

Osaki M, Shimabayashi A, Iwao Y, Asakura Y, Adachi H, Ito H and Yoshida H reactions.: "Search for mycobacterial DNA in paraffin-embedded tissues from bone and soft-tissue tuberculosis by duplex polymerase chain Ahelpful methodto histopathological diagnosi

Osaki M、Shimabayashi A、Iwao Y、Asakura Y、Adachi H、Ito H 和 Yoshida H 反应。：“通过双链聚合酶链在骨和软组织结核病的石蜡包埋组织中搜索分枝杆菌 DNA 组织病理学诊断的有用方法

Osaki M, Adachi H, Gomyo Y, Yoshida H and Ito H: "Detection of Mycobacterial DNA in Formalin-Fixed,Paraffin-Embedded Tissue Specimensa by Duplex Polymerase Chain Reaction : Application to Histopathologic Diagnosis" Mod Pathol. 78. 78-83 (1997)

Osaki M、Adachi H、Gomyo Y、Yoshida H 和 Ito H：“通过双链聚合酶链反应检测福尔马林固定、石蜡包埋的组织标本中的分枝杆菌 DNA：在组织病理学诊断中的应用”Mod Pathol。

Osaki M, Adachi H, Gomyo Y, Yoshida H and Ito H: "Detection of mycobacterial DNA in formalin-fixed, paraffin-embeddedtissue specimens by duplex polymerase chain reaction : Application to histopathologic diagnosis" Mod Pathol. 10. 78-83 (1997)

Osaki M、Adachi H、Gomyo Y、Yoshida H 和 Ito H：“通过双重聚合酶链反应检测福尔马林固定、石蜡包埋的组织标本中的分枝杆菌 DNA：在组织病理学诊断中的应用”Mod Pathol。

長尾勝人、井藤久雄、吉田春彦: "病理診断と分子生物学・遺伝学:軟部悪性腫瘍における染色体転座の検出" 病理と臨床(臨時増刊). 16. 299-301 (1996)

Katsuto Nagao、Hisao Ito、Haruhiko Yoshida：“病理诊断和分子生物学/遗传学：软组织恶性肿瘤中染色体易位的检测”病理学和临床实践（特刊）16。299-301（1996）。