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苏州大学附属第二医院血液科①与苏州精准医疗②合作报道了BCL6使DLBCL对HDAC抑制剂产生耐药性,文章发表在 Biochemical Pharmacology.
2024 Sep;227:116466. doi: 10.1016/j.bcp.2024.116466.
BCL6 confers resistance to HDAC inhibitors in DLBCL.
苏州大学附属第二医院血液科①与苏州精准医疗②合作报道了以PIM1为靶点治疗弥漫性大b细胞淋巴瘤的天然产物,文章发表在 Annals of Hematology.
2024 Aug;103(8):2905-2915. doi: 10.1007/s00277-024-05670-7.
A promising natural product in diffuse large B-cell lymphoma therapy by targeting PIM1
无锡市人民医院血液科①与苏州精准医疗②合作报道了一例伴有KMT2A::DCP1B融合的慢性中性粒细胞白血病患者,文章发表在International Journal of Laboratory Hematology.
2024 Feb;46(1):165-168. doi: 10.1111/ijlh.14173.
A novel KMT2A::DCP1B rearrangement in chronic neutrophilic leukemia
苏州大学附属第二医院血液科①与苏州精准医疗②合作报道了CMSS1::FLT1在AML患者中的重排导致FLT1信号的激活改变细胞的凋亡和药物敏感性,文章发表在Am J Hematol.
2023 Dec;98(12):E380-E382. doi: 10.1002/ajh.27108.
CMSS1::FLT1 rearrangement leads to ligand-independent activation of FLT1 signaling in acute myeloid leukemia
苏州大学附属儿童医院血液科①与苏州精准医疗②合作报道了世界首例恶性肿瘤中的SNCB基因融合,文章发表在Front. Oncol.
2023 May 12;13:1167143. doi: 10.3389/fonc.2023.1167143.
Intragenic β-synuclein rearrangements in malignancy.
苏州大学附属第二医院神经外科、复旦大学附属华山医院神经外科等①与苏州精准医疗②合作报道了中国家族性脑海绵状血管畸形的分子遗传学特征及临床表现:从新型KRIT1/CCM1突变(c.1119dupT)到整体观点,文章发表在Front. Neurosci.
2023 May 5;17:1184333. doi: 10.3389/fnins.2023.1184333.
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
苏州大学附属第二医院血液科①与苏州精准医疗②合作报道了弥漫性大B细胞淋巴瘤中的IGH::CD274 (PD-L1)重排及其对治疗的影响,文章发表在EJHaem.
2023 Apr 25;4(2):442-445. doi: 10.1002/jha2.693.
IGH::CD274 (PD-L1) rearrangement in diffuse large B cell lymphoma and its therapeutic implication
海口市人民医院血液科等①与苏州精准医疗科技②合作报道了一例侵袭性急性髓系白血病(AML)伴HNRNPH1::ERG重排,文章发表在Genes Chromosomes Cancer.
2022 Aug;61(8):503-508. doi: 10.1002/gcc.23051.
A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia.
苏州大学附属儿童医院血液科①与苏州精准医疗科技②合作报道了在缺乏明确预后分级基因改变的儿童B-ALL中高表达白细胞介素3受体α链 (CD123)预示着预后良好。文章发表在Front Oncol.
2021 Mar 16;11:614420. doi: 10.3389/fonc.2021.614420.
High Expression of Interleukin-3 Receptor Alpha Chain (CD123) Predicts Favorable Outcome in Pediatric B-Cell Acute Lymphoblastic Leukemia Lacking Prognosis-Defining Genomic Aberrations.
哈佛大学BWH医院等①与苏州精准医疗科技②合作报道了5q和7q缺失的髓系恶性肿瘤常伴有复杂基因组改变、TP53双等位基因突变以及预后不良。文章发表在Blood Cancer J.
2021 Feb 8;11(2):18. doi: 10.1038/s41408-021-00416-4.
Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis.
苏州大学附属第一医院血液科①与苏州精准医疗科技②合作报道了世界首例Ph-like ALL伴STRBP-JAK2基因融合,文章发表在Frontiers in Oncology.
2021 Jan 11;10:611467. doi: 10.3389/fonc.2020.611467.
Identification of STRBP as a Novel JAK2 Fusion Partner Gene in a Young Adult With Philadelphia Chromosome-Like B-Lymphoblastic Leukemia.
无锡市人民医院血液科①与苏州精准医疗科技②合作报道了一例罕见的髓系/淋系肿瘤伴FTL3 重排,文章发表在Br J Haematol.
2020 Oct;191(2):297-301. doi: 10.1111/bjh.16995.
ZBTB44-FLT3 fusion in a patient with a myeloproliferative neoplasm.
哈佛大学BWH医院等①与苏州精准医疗科技②合作报道了髓系肿瘤中IGH重排。文章发表在Haematologica.
2020 Jun;105(6):e315-e317. doi: 10.3324/haematol.2020.246744.
IGH rearrangement in myeloid neoplasms.
南阳市中心医院①、广州医科大学血液科等②与苏州精准医疗科技③合作报道了世界首例AML伴RUNX1-TACC1基因融合,文章发表在Br J Haematol.
2020 Apr;189(2):e52-e56. doi: 10.1111/bjh.16444.
Identification of a novel RUNX1-TACC1 fusion transcript in acute myeloid leukemia.
苏州大学附属第一医院血液科①与苏州精准医疗科技②合作报道了世界首例达沙替尼有效治疗小儿复发B-ALL伴NCOR1-LYN基因融合,文章发表在Front Oncol.
2020 Mar 20;10:359. doi: 10.3389/fonc.2020.00359.
Rapid Molecular Response to Dasatinib in a Pediatric Relapsed Acute Lymphoblastic Leukemia With NCOR1-LYN Fusion.
中国医科大学第一附属医院血液科①等与苏州精准医疗科技②合作报道了一例罕见的髓系/淋系肿瘤伴FGFR1重排合并RUNX1和NOTCH1 突变,文章发表在Front Oncol.
2019 Nov 22;9:1304. doi: 10.3389/fonc.2019.01304.
Myeloid/Lymphoid Neoplasm With FGFR1 Rearrangement Accompanying RUNX1 and NOTCH1 Gene Mutations.
哈佛大学BWH医院①与苏州精准医疗科技②合作报道了急性髓系白血病的继发性改变ZMYM2-FGFR1基因融合。文章发表在Leuk Lymphoma.
2019 Feb;60(2):556-558.doi:10.1080/10428194.2018.1493733.
ZMYM2-FGFR1 fusion as secondary change in acute myeloid leukemia.
哈佛大学Daner-Faber癌症中心等①与苏州精准医疗科技②合作报道了通过单细胞DNA和RNA靶基因测序在CLL中发现LCP1和WNK1突变为新的驱动基因及其功能,文章发表在Genome Res.
2017 Aug;27(8):1300-1311.doi:10.1101/gr.217331.116.
Integrated single-cell genetic and transcriptional analysis suggests novel drivers of chronic lympho-cytic leukemia.
苏州大学附属第一医院神经外科①与苏州精准医疗②合作报道了胚系CHEK2突变与巨细胞胶质母细胞瘤相关的病例,文章发表在Frontiers in Oncology.
2024 Oct 1;14:1361928. doi: 10.3389/fonc.2024.1361928.
Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma.
南通大学附属医院甲乳外科、嘉善县第一人民医院甲乳外科、浦东新区人民医院普外科①与苏州精准医疗②合作报道了两例ETV6-NTRK3重排乳头状甲状腺癌的临床病理特征:病例报告,文章发表在Front. Oncol.
2024 May 28;14:1332522. doi: 10.3389/fonc.2024.1332522.
Clinicopathological features of two cases of ETV6-NTRK3 rearranged papillary thyroid carcinoma: a case report
苏州大学附属第一医院妇产科①与苏州精准医疗②合作报道了胚系 CHEK1c.613+2T>C 突变导致剪接错误和家族性肿瘤,文章发表在Frontiers in Oncology
2024 Apr 15;14:1380093. doi: 10.3389/fonc.2024.1380093.
Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients
中南大学湘雅医院肿瘤科①与苏州精准医疗②合作报道了第二例EGFL7::FOSB融合相关的假肌源性血管内皮瘤表现出不同的临床特征,文章发表在Histopathology.
2024 Mar;84(4):708-712. doi: 10.1111/his.15108.
Diverse clinical presentations of pseudomyogenic hemangioendothelioma associated with EGFL7::FOSB fusion: a second case
中南大学湘雅医院肿瘤科①与苏州精准医疗②合作报道了一例MDM2和HMGA2扩增的去分化脂肪肉瘤中发现一种新的HMGA2::KITLG融合,文章发表在Genes Chromosomes Cancer.
2024 Jan;63(1):e23200. doi: 10.1002/gcc.23200.
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA2.
苏州大学附属第二医院神经外科①与苏州精准医疗②合作报道了世界首例毛细胞型星形细胞瘤中的RIN2::BRAF融合,文章发表在Virchows Archiv.
2023 Feb;482(2):451. doi: 10.1007/s00428-022-03485-3.
Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion
苏州大学附属第二医院神经外科与苏州精准医疗合作报道了一例胚胎发育不良性神经上皮肿瘤中新型LHFPL3::NTRK2融合,文章发表在Front. Oncol.
2022 Dec 1;12:1064817. doi: 10.3389/fonc.2022.1064817.
Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor.
苏州大学第二附属医院甲乳外科等①与苏州精准医疗科技②合作报道了应用二代测序技术对甲状腺乳头状癌突变基因谱及临床特征相关性的研究,文章发表在中华实验外科杂志。
2022年7月第39卷,doi:10.3760/cma.j.cn421213-20220418-00290。
应用二代测序技术对甲状腺乳头状癌突变基因谱及临床特征相关性的研究
苏州大学附属第二医院神经外科①与苏州精准医疗科技②合作报道了一例具有骨肉瘤成分的胶质瘤肉病例报道及文献复习,文章发表在Pathology - Research and Practice.
2022 Apr;232:153837. doi: 10.1016/j.prp.2022.153837.
Gliosarcoma with osteosarcomatous component: A case report and short review illustration.
苏州市儿童医院血液科与苏州精准医疗科技合作报道了一例特殊的含KIT病理突变的卵巢生殖细胞肿瘤/肥大细胞增多症。文章发表在Genes Chromosomes Cancer.
2022 Jan;61(1):50-54. doi: 10.1002/gcc.23000.
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity.
中国医科大学附属盛京医院等①与苏州精准医疗科技②合作报道了RPL41通过下调ATF4提高视网膜母细胞瘤对化疗药物敏感性,文章发表在J CellPhysiol.
2021 Mar;236(3):2214-2225. doi: 10.1002/jcp.30010.
RPL41 sensitizes retinoblastoma cells to chemotherapeutic drugs via ATF4 degradation.
哈佛大学BWH医院①与苏州精准医疗科技②合作报道了世界首例多形性汗腺癌(PSGC)伴有MYB融合,文章发表在Histopathology.
2020 Apr;76(5):779-781. doi: 10.1111/his.14025.
Polymorphous sweat gland carcinoma found to have MYB rearrangement.
苏州大学附属儿童医院①与苏州精准医疗科技②合作报道了世界第二例肾癌伴EWSR1-TFE3融合,文章发表在Genes Chromosomes Cancer.
2020 May;59(5):325-329. doi: 10.1002/gcc.22830.
A renal cell carcinoma with EWSR1-TFE3 fusion gene.
苏州大学附属儿童医院血液科等①与苏州精准医疗科技②合作报道了PROTAC溴化腺素抑制剂ARV-825在神经母细胞瘤中的抗肿瘤活性并阐述其分子机制。文章发表在Front Oncol.
2020 Nov 26;10:574525. doi: 10.3389/fonc.2020.574525.
PROTAC Bromodomain Inhibitor ARV-825 Displays Anti-Tumor Activity in Neuroblastoma by Repressing Expression of MYCN or c-Myc.
哈佛大学BWH医院①与苏州精准医疗科技②合作报道RCC2过表达通过激活Rac1从而改变肿瘤细胞的凋亡和药物敏感性。文章发表在BMC Cancer.
2018 Jan 10;18(1):67. doi: 10.1186/s12885-017-3908-y.
RCC2 over-expression in tumor cells alters apoptosis and drug sensitivity by regulating Rac1 activation.
中国医科大学附属盛京医院眼科①与苏州精准医疗科技②合作报道了小分子肽RPL41通过降低ATF4减弱缺氧诱导视网膜病变小鼠的视网膜新生血管形成。文章发表在Exp Cell Res.
2018 Aug 15;369(2):243-250. doi: 10.1016/j.yexcr.2018.05.027.
Mini-peptide RPL41 attenuated retinal neovascularization by inducing degradation of ATF4 in oxygen-induced retinopathy mice.