泛生子攜22項(xiàng)癌癥領(lǐng)域新研究成果亮相2021年美國癌癥研究協(xié)會(huì)年會(huì)

熱門推薦：美國癌癥研究協(xié)會(huì)年會(huì) , 癌癥領(lǐng)域 , 泛生子 ,

來源：醫(yī)藥健聞

2021-04-15

近日，泛生子在2021年美國癌癥研究協(xié)會(huì)年會(huì)（AACR2021）發(fā)布了22項(xiàng)全新研究成果。

近日，泛生子在2021年美國癌癥研究協(xié)會(huì)年會(huì)（AACR2021）發(fā)布了22項(xiàng)全新研究成果。企業(yè)運(yùn)用RNA融合檢測、新型MSI檢測生信算法模型、“一步法”等創(chuàng)新技術(shù)，及Onco PanscanTM、肉瘤全體系基因檢測等核心產(chǎn)品，攜手13家國內(nèi)頂級(jí)醫(yī)院，圍繞中國人群深入分析肺癌、腸癌、胰腺癌、神經(jīng)系統(tǒng)腫瘤、胸腺癌等多癌種遺傳、突變、融合特征分布，驗(yàn)證并挖掘多癌種免疫治療標(biāo)志物有效性，以及罕見案例和新型療法，進(jìn)而為癌癥精準(zhǔn)診療方式、診療產(chǎn)品設(shè)計(jì)等提供重要啟示(附研究列表)。

泛生子首席醫(yī)療官胡云富博士表示：“作為基礎(chǔ)研究與臨床應(yīng)用的橋梁，泛生子始終致力于為二者建立良性互促關(guān)系，全力推動(dòng)轉(zhuǎn)化醫(yī)學(xué)發(fā)展。本次研究成果，基于企業(yè)創(chuàng)新技術(shù)及產(chǎn)品，助力多癌種基因組學(xué)的特征分析及技術(shù)優(yōu)化路線探索，并為新產(chǎn)品設(shè)計(jì)提供思路。如在軟組織肉瘤領(lǐng)域，通過RNA融合檢測技術(shù)，大幅提高融合檢出率，為更多肉瘤患者提供獲益可能；在遺傳性腫瘤領(lǐng)域，Li-Fraumeni綜合征篩查方法的提出也將提升該類患者檢出率，為其提供更多干預(yù)機(jī)會(huì)；在結(jié)直腸癌領(lǐng)域，KMT2C/2D失活突變的分析也將為免疫治療適用患者提供更多獲益可能。此外，罕見病例挖掘及其新型療法的嘗試，將推動(dòng)該類型患者的診療研究進(jìn)一步發(fā)展。”

探索技術(shù)優(yōu)化路線

為打破DNA-seq針對(duì)檢測基因融合所存在的局限性，研究2288對(duì)常規(guī)技術(shù)進(jìn)行優(yōu)化，在RNA層面實(shí)現(xiàn)了更精準(zhǔn)、高效、低耗的融合基因突變檢測，在142人的軟組織肉瘤隊(duì)列中進(jìn)行評(píng)估及驗(yàn)證。研究顯示相比DNA單獨(dú)檢測，DNA+RNA綜合檢測對(duì)于軟組織肉瘤融合的檢出率提高了177%，可為更多肉瘤患者提供臨床獲益可能。

研究2080對(duì)NGS MSI生信算法進(jìn)行了多重優(yōu)化，并與金標(biāo)準(zhǔn)PCR對(duì)比，在2523例泛癌種大樣本中進(jìn)行驗(yàn)證。結(jié)果表明，優(yōu)化后的算法與金標(biāo)準(zhǔn)PCR檢測方法一致性達(dá)99.9%。其中MSI-H陽性預(yù)測率PPV為98.73%，MSS陰性預(yù)測率NPV為99.92%。

關(guān)注遺傳性腫瘤特征

兩項(xiàng)研究（#1464、#2557）通過對(duì)胚系突變的深入分析，為Li-Fraumeni綜合征提供了篩查方法，探討了中國人群胰腺癌患者遺傳特征及具體分布，為遺傳性腫瘤篩查及診療提供證據(jù)及思路。

探索基因突變及融合特征

九項(xiàng)研究（#2217、#2163、#2223、#2216、#2215、#2313、#2252、#2183、#2182）分別對(duì)軟組織肉瘤、黑色素瘤、神經(jīng)內(nèi)分泌腫瘤、非小細(xì)胞肺癌、胸腺癌、小腸腺癌、壺腹癌等多個(gè)癌種進(jìn)行突變、融合特征多維度探索，尋找潛在精準(zhǔn)治療靶點(diǎn)、耐藥靶點(diǎn)及有效應(yīng)對(duì)措施。

挖掘免疫治療標(biāo)志物

四項(xiàng)研究（#1639、#1640、#1641、#1681）分別探討了KMT2C/D失活突變、DDR信號(hào)通路相關(guān)基因變異、ARID1A突變以及BRCA1/2突變對(duì)泛癌種免疫治療療效的預(yù)測作用，為免疫治療提供啟示。

關(guān)注罕見案例及新型療法

五項(xiàng)研究（#0803、#0422、#1209、#1199、#0625）分別在林奇綜合征相關(guān)肺癌、轉(zhuǎn)移性黑色素瘤、間變性甲狀腺癌、甲狀腺乳頭狀癌以及脂肪肉瘤患者中檢測出特殊的分子異常。研究通過分子檢測輔助患者進(jìn)行診斷分型，為患者采用新型的靶向治療、免疫治療方案，最終使患者成功獲益。

編號(hào)	題目
1464	Enrichment and screening of LFS patients by analyzing TP53 germline mutations of a Chinese cancer cohort
2252	Genome profiling of thymic carcinoma identifies putative driver mutations in the NF- κB signaling pathway
2557	Germline mutation landscape in a large cohort of Chines pancreatic cancer patients
0803	Molecular diagnosis and immunotherapy of a rare lung carcinoma patient associated with PMS2 c.1144+1G>A mutation-driven Lynch syndrome
0422	Sequential targeted therapy and immunotherapy of a BRAF positive metastatic melanoma patient with BRAF inhibitor vemurafenib, MEK inhibitor cobimetnib and a novel PD-1 antibody Sintilimab
2183	Genomic profiling of small bowel adenocarcinoma reveals targetable mutations in multiple signaling pathways
2217	More somatic mutations can be detected in cerebrospinal fluid ctDNA of NSCLC patients with brain metastases
2182	Evaluation of somatic and germline mutations in ampullary carcinoma reveals actionable targets in multiple signaling pathways
1209	An effective treatment for recurrent and inoperable anaplastic thyroid carcinoma using sintilimab and anlotinib: a case report
1681	Correlation of BRCA1/2 mutations with response to immune checkpoint inhibitors in colorectal cancer
1641	The predictive values of ARID1A mutations for response to immune checkpoint inhibitors are varied in different types of solid tumors
1639	Correlation of KMT2C/D loss-of-function mutations with PD-L1 expression and response to immune checkpoint inhibitors in solid tumors
1640	Correlations of DNA damage response gene alterations with response to immune checkpoint inhibitors are different in solid tumors
2288	Identification of gene fusions in soft tissue sarcoma improved by integrative DNA and RNA sequencing
2163	Molecular characteristics of CDK4 and/or MDM2 amplification in Chinese soft tissue sarcoma (STS) patients
0625	Co-amplification of CDK4 and MDM2 plus HMGA2 fusion in a patient with myogenic differentiation dedifferentiated liposarcoma
2223	Distinct genomic features of cutaneous, acral and mucosal melanomas in a Chinese retrospective cohort
2216	Exploration of the genomic features of pan-neuroendocrine tumors in a Chinese retrospective analysis
2215	Landscape of RET fusion identified by next–generation sequencing in a Chinese multi-cancer retrospective analysis
1199	Mosaic KRAS G12S mutation associates with poor outcome in papillary thyroid carcinoma: A case report
2080	Tumor microsatellite instability detection method using paired tumor-normal sequence data
2313	The characteristics of ERBB2 exon 20 insertion in a large cohort of Chinese NSCLC patients