软组织肿瘤融合基因汇总
Adipocytic tumors
Chondroid lipoma：C11orf95-MKL2；Lipoma：HMGA2-LPP，HMGA2-LHFP，LPP-LHFP，HMGIC-LPP，HMGA2-CXCR7，HMGA2-EBF1，HMGA2-NFIB，HMGA2-PPA2B，HMGA2-SETBP1，HMGA2-C9orf92，EBF1-LOC204010，NUP107-LGR5；Lipoblastoma：COL3A1-PLAG1，HAS2-PLAG1，COL1A2-PLAG1，RAD51B-PLAG1，RAD51L1-PLAG1，ZEB2-PLAG1，RAB2A-PLAG1，BOC-PLAG1，SRSF3-PLAG1，HNRNPC-PLAG1，PCMTD1-PLAG1，YWHAZ-PLAG1，CTDSP2-PLAG1，PPP2R2A-PLAG1，CHCHD7-PLAG1，MLL2-ABCD2；Myxoid liposarcoma：FUS-DDIT3，EWSR1-DDIT3.
Fibroblastic/myofibroblastic tumors
Nodular fasciitis：MYH9-USP6，EIF5A-USP6，PPP6R3-USP6，PAFAH1B1-USP6，SEC31A -USP6；Cranial fasciitis：SERPINH1-USP6，COL3A1-USP6，SPARC-USP6，MYH9-USP6，COL1A1-CAMTA1；Cellular fibroma：MYH9-USP6，CDH11-USP6，PKM-USP6，RCC1-USP6，ASPN-USP6，COL1A1-USP6, COL3A1-USP6；Tenosynovival giant cell tumor：CSF1-COL6A3；Giant cell fibroblastoma：COL1A1-PDGFB；Dermatofibrosarcoma protuberans：COL1A-PDGFB；Inflammatory myofibroblastic tumor：TPM3-ALK，TPM4-ALK，CLTC-ALK，CARS-ALK，ATIC-ALK，SEC31A-ALK，PPFIBP1-ALK，NPM1-ALK，EML4-ALK，LMNA-ALK，PRKAR1A-ALK，RANBP2-ALK，IGFBP5-ALK，THBS1-ALK，FN1-ALK，TIMP3-ALK，TFG-ROS1，YWHAE-ROS1，TIMP3-RET，ETV6-NTRK3，NAB2-PDGFRB；Low grade fibromyxoid sarcoma：NAB2-PDGFRB，FUS-CREB3L1，FUS-CREB3L2；Myoinflammatory fibroblastic sarcoma：TGFBR3-MGEA5；Infantile fibrosarcoma：ETV6-NTRK3；Solitary fibrous tumor：NAB2-STAT6，LRP1-NAB2；Congenital fibrosarcoma：ETV6-NTRK3；Sclerosing epithelioid fibrosarcoma：EWSR1-CREB3L1，DDIT3-FUS，FUS-CREB3L1，FUS-CREB3L2；Angiofibroma：AHRR-NCOA2，NCOA2-ETV4，ETV4-AHRR，P4HA2-TBCK，TBCK-P4HA2.
So-called Fibrohistiocytic tumors
Tenosynovial giant cell tumor：CSF1-COL6A3；Epithelioid fibrous histiocytoma：VCL-ALK，SQSTM1-ALK.
Smooth muscle tumors
Uterine leiomyoma：HMGA2-ALDH2；Leiomyosarcoma：AP1B1-EWSR1.
Pericytic (perivascular) tumor
Myopericytoma：ACTB-GLI1.
Skeletal muscle tumors
Alveolar rhabdomyosarcoma：PAX3-FOXO1，PAX3-MAML3，PAX7-FOXO1，PAX3-NCOA1，PAX3-NCOA2.
Vascular tumors
Epithelioid haemangioma：WWTR1-CAMTA1, YAP1-TFE3，ZFP36-FOSB，FOS-LMNA，FOS-VIM；Pseudomyogenic haemangioendothelioma：SERPINE1-FOSB；Epithelioid hemangioendothelioma：YAP1-TFE3，WWTR1-CAMTA1；Perivascular epithelioid cell tumor：SLC4A10-ROS1，ROS1-NETO1；Intravascular fasciitis：CTNNB1-USP6 .
Chondro-osseous tumors
Mesenchymal chondrosarcoma：BCLAF1-RAP1GAP2，HEY1-NCOA2.
Ewing sarcoma
Ewing sarcoma：EWSR1-FLI1，EWSR1-ERG，EWSR1-ETV1，EWSR1-ETV4，EWSR1-FEV，EWSR1-NFATC2，EWSR1-ZFG，EWSR1-ZSG，EWSR1-ELF5，EWSR1-SMARCA5，EWSR1-POU5F1，EWSR1-SP3，EWSR1-PATZ，FUS-ERG，FUS-FEV，FUS-NFATC2，CIC-DUX4，CIC-FOXO4，CIC-LEUTX，CIC-NUTM1，CIC-NUTM2B，BCOR-CCNB3，BCOR-MAML3，RARA-BCOR，KMT2D-BCOR，ZC3H7B-BCOR，BCOR-ITD.
Tumors of uncertain differentiation
Angiomatoid fibrous histiocytoma：EWSR1-CREB1，EWSR1-ATF1，FUS-ATF1；Extraskeletal myxoid chondrosarcoma：EWSR1-NR4A3，TAF2N-NR4A3，TFC12-NR4A3，TAF15-NR4A3，TFG-NR4A3，EWSR1-CHOP；Hemosiderotic fibrolipomatous tumor：TGFBR3-MGEA5；Alveolar soft part sarcoma：ASPSCR1-TFE3；Myoepithelioma/myoepithelial carcinoma/mixed tumor：EWSR1-POU5F1，EWSR1-PBX1，FUS-KLF17，EWSR1-PBX3，EWSR1-ZNF444，EWSR1-ATF1；Soft tissue angiofibroma：AHRR-NCOA2；Ossifying fibromyxoid tumor：EP400-PHF1，MEAF6-PHF1，EPC1-PHF1，ZC3H7B-BCOR；Clear cell sarcoma of soft tissue：EWSR1-ATF1，EWSR1-CREB1，C11orf49-EWSR1，FUS-ATF1；Clear cell sarcoma of the kidney：YWHAE-NUTM2E；Clear cell sarcoma like tumor of GI tract：EWSR1-ATF1，EWSR1-CREB1；Desmoplastic small round cell tumor：EWSR1-WT1，EWSR1-ERG，SLC25A37-EWSR1，RIC3-EWSR1；Extraskeletal Ewing sarcoma：EWSR1-FLI1，EWSR1-EIAF，EWSR1-ERG，EWSR1-ETV1，EWSR1-FEV，FUS-ERG；Primary pulmonary myxoid sarcoma：EWSR1-CREB1；PEComa：DVL2-TFE3，SFPQ-TFE3，SFPQ-TFE3，NONO-TFE3，CAMTA1-TFE3；Synovial sarcoma：SYT-SSX1，SYT-SSX2，SYT-SSX4，SS18L1-SSX1，COL4A3BP-ROS1，Undifferentiated pleomorphic sarcoma/Malignant fibrous histiocytoma/High-grade spindle cell sarcoma：CIC-LEUTX，MLL2-BCOR，MLL2-ARF3，EWSR1-ERG；Endometrial stromal tumor：JAZF1-JJAZ1.
Tumors of uncertain differentiation
Undifferentiated round and spindle cell sarcomas：CIC-DUX4，BCOR-CCNB3；Round cell Ewing-like sarcoma：EWSR1-NFATC2，EWSR1-POU5F1，EWSR1-SMARCA5，EWSR1-PATZ1，EWSR1-ZSG，EWSR1-SP3，CIC-DUX10，CIC-FOXO4，FUS-ERG，FUS-NCATC2，BCOR-CCNB3，ETV6-NTRK3.
Tumor of undefined neoplastic nature
Aneurysmal bone cyst：USP9X-USP6，CDH11-USP6，COL1A1-USP6，COL1A2-USP6，ANGPTL2-USP6， LUM-USP6，ASAP1-USP6，FAT1-USP6，SAR1A-USP6，TNC-USP6，PAFAH1B1-USP6，SPARC-USP6，RUNX2-USP6，EWSR1-NFATC2 ，FUS-NFATC2.
分子检测对融合基因变异型软组织肿瘤的病理诊断具有重要作用，由于病理结果直接影响后续治疗方案的选择。很多临床临床试验也要求患者入组前进行基因检测确认，尽管融合基因变异型软组织肿瘤的诊断长期以来一直依赖于分子遗传学改变，但是融合的检测技术的选择不当可能会造成诊断陷阱。传统FISH检测对于融合伙伴无法确认，国际上AMP技术在软组织融合方面积累了很多经验，它的新一代测序技术PANO-Seq全景测序技术的全面应用为融合基因变异型软组织肿瘤的检测更详细的诊断信息。
走进中国科学院大学附属肿瘤医院（浙江省肿瘤医院）I期临床试验病房
2013年，郑宗立博士在哈佛医学院麻省总医院工作期间发明了肿瘤基因检测技术--AMP（锚定多重PCR法）技术，其兼具杂交捕获法检测全面精度高和超多重PCR操作简便灵敏度高的优势，迅速在美国的顶级医院麻省总医院（综合排名多年全美第一）得以推广，成为该医院主要的肿瘤分子检测手段。该发明于2016年11月获得美国专利局专利，当时率先采用的一些关键技术（如单分子标记除重、多区域标签等）直至今日仍只有少数厂家能成熟掌握。
2017年纪念斯隆凯特琳癌症中心是美国第一个获批IVD的468基因 DNA NGS产品，而RNA 检测舍弃自行开发的MSK-IMPACT（基于杂交法），选择了 AMP技术。
2017年，郑宗立博士带领的海外归国团队创立恒特基因公司并开发了PANO-Seq全景测序是新一代的原创肿瘤测序技术平台，性能全面优于AMP。
【突破】RNA+DNA同时测序，检测癌症组织中的基因融合和碱基突变！
NGS接龙丨恒特基因首席科学家郑宗立：专注肿瘤测序，加速技术创新
测序百家丨恒特基因联合创始人郑宗立博士：聚焦基因融合，拓展精准医疗应用范围