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Bionano Announces Publication From Johns Hopkins School of Medicine Showing That OGM Outperformed Multiple Cytogenetic Assays in a Study of Bone and Soft Tissue Tumor Analysis

Bionano Announces Publication From Johns Hopkins School of Medicine Showing That OGM Outperformed Multiple Cytogenetic Assays in a Study of Bone and Soft Tissue Tumor Analysis

Bionano宣布约翰霍普金斯医学院的研究结果显示,OGm在骨和软组织肿瘤分析的研究中优于多种细胞遗传学检测。
BioNano Genomics ·  12/23 13:00
  • In the largest study to date of bone and soft tissue tumors, OGM detected 100% of the variants found by multiple standard techniques, including karyotyping, fluorescent in-situ hybridization (FISH) & gene fusion assays
  • OGM was also more sensitive, including detection of diagnostic or pathogenic variants missed by karyotype in 74% (14/19) of cases that failed or were negative by karyotyping
  • When OGM results and next-generation sequencing (NGS) results were combined, diagnostic and pathogenic structural variants (SVs), copy number variants (CNVs), and/or single nucleotide variants (SNVs) were found in ~98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used
  • 在迄今为止最大的骨骼和软组织肿瘤研究中,OGm 检测到了所有通过多种标准技术发现的变异,包括染色体核型分析、荧光原位杂交 (FISH) 和基因融合检测。
  • OGm 的敏感性也更高,包括在 74%(14/19)的病例中检测到的由核型分析漏掉的诊断性或致病性变异,这些病例在核型分析中未能或结果为阴性。
  • 当合并 OGm 结果和下一代测序 (NGS) 结果时,约 98% 的病例发现了诊断性和致病性结构变异 (SVs)、拷贝数变异 (CNVs) 和/或单核苷酸变异 (SNVs),这一比例远高于使用核型分析、FISH 和 NGS 时的结果。

SAN DIEGO, Dec. 23, 2024 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a publication in Modern Pathology by a group of researchers at the Johns Hopkins University School of Medicine, showing that optical genome mapping (OGM) can outperform traditional techniques in analysis of bone and soft tissue tumors. Several prior publications have shown the utility of OGM compared to traditional cytogenetics in studies of hematologic malignancies, however, data on the application of OGM in solid tumors has been relatively sparse. This study provides compelling support for extending the utility of OGM in cancer beyond hematologic malignancies to solid tumors.

圣地亚哥,2024年12月23日(全球新闻通讯)-- BioNano Genomics, Inc.(纳斯达克:BNGO)今天宣布,约翰霍普金斯大学医学院的一组研究人员在《现代病理学》上发表了一篇论文,表明光学基因组测序(OGM)在骨骼和软组织肿瘤分析中可以超过传统技术。几篇之前的发表文章已经显示了OGM在血液恶性肿瘤研究中相比传统细胞遗传学的实用性,但关于OGM在实质性肿瘤应用的数据相对较少。这项研究为将OGM的应用扩展到肿瘤以外的血液恶性肿瘤提供了有力支持。

Key findings:

主要发现:

  1. OGM detected all variants revealed by conventional cytogenetics: OGM showed 100% concordance, identifying all pathogenic variants detected by standard of care cytogenetic methods. The specificity of OGM was assessed to be 100%, i.e. OGM correctly identified the same pathogenic SVs and CNVs detected by standard of care/routine cytogenetics (karyotyping and FISH).
  2. OGM detected pathogenic variants missed by karyotyping: In 74% of cases with normal or failed karyotype, OGM detected diagnostic or pathogenic SVs that were missed by karyotyping. Further, in 6 cases that failed to yield any karyotyping results due to culture failure, OGM detected pathogenic SVs in all of them. Variants found by OGM but missed by standard of care included the EWSR1::ETV1 fusion, which is a key molecular hallmark of clear cell sarcoma and helps to differentiate it from other soft tissue sarcomas and melanomas.
  3. OGM resolved complex cancer genomes: Study authors found that OGM data could re-characterized and better defined complex structural rearrangements including chromoanagenesis in 27% of cases and complex 3-6-way translocations in 15% of cases when compared to traditional cytogenetic methods.
  4. OGM combined with NGS found pathogenic variants in 98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used: The integrated approach of the combination of OGM and NGS resulted in the detection of pathogenic SVs and sequence variants in ~98% of cases. OGM was 100% concordant with NGS for aneuploidy detection.
  5. OGM findings have the potential to qualify subjects for targeted therapies that otherwise would not have been possible: The authors state that several of the OGM findings could result in the potential for these cases to qualify for either targeted treatments or clinical trials. For example, cases with potential to be treated by CDK4/6 inhibitors (palbociclib, ribociclib, abemaciclib), TRK inhibitors (larotrectinib, entrectinib), pan-FGFR inhibitors (erdafitinib or futibatinib) were highlighted.
  1. OGm检测到所有传统细胞遗传学揭示的变异:OGm显示出100%的一致性,识别所有标准护理细胞遗传学方法检测到的致病变异。OGm的特异性评估为100%,即OGm正确识别了标准护理/常规细胞遗传学(核型分析和荧光原位杂交)检测到的相同致病SV和CNV。
  2. OGm检测到核型分析遗漏的致病变异:在74%的正常或失败核型分析案例中,OGm检测到了核型分析遗漏的诊断性或致病SV。此外,在6个由于培养失败而未能获得任何核型分析结果的案例中,OGm在所有案例中均检测到了致病SV。OGm发现的变异但标准护理遗漏的包括EWSR1::ETV1融合,这是清细胞肉瘤的关键分子标志,有助于将其与其他软组织肉瘤和黑色素瘤区分开。
  3. OGm解析了复杂的癌症基因组:研究作者发现,与传统细胞遗传学方法相比,OGm数据能够重新表征和更好地定义复杂的结构重排,包括在27%的案例中发现的染色体重组症和在15%的案例中发现的复杂3-6路易位。
  4. OGm与NGS结合在98%的案例中找到了致病变异,远高于核型分析、荧光原位杂交和NGS联用时的检测率:OGm与NGS组合的综合方法使在~98%的案例中检测到致病SV和序列变异。OGm在染色体不等倍体检测方面与NGS的结果一致率为100%。
  5. OGm的发现有潜力使受试者符合其他可能无法实现的靶向疗法的资格:作者指出,OGm的一些发现可能导致这些病例有资格接受靶向治疗或参与临床试验。例如,可能利用CDK4/6抑制剂(帕博西利、利布西利、阿贝西利)、TRk抑制剂(来托昔尼、恩曲替尼)或全FGFR抑制剂(厄达非尼或富替尼)的病例被突出强调。

Erik Holmlin, president and chief executive officer of Bionano commented, "Approximately 50% of bone and soft tissue tumor samples fail to reveal actionable information for proper classification of disease, prognosis and therapeutic management because they either fail to culture or because traditional techniques in cytogenetics lack adequate sensitivity and specificity to reliably detect relevant variants. We have seen increasing evidence for OGM as a valuable alternative to cytogenetic methods in blood cancers, and we are thrilled to see researchers at Johns Hopkins publishing this compelling case for extending OGM's utility to bone and soft tissue tumors."

Bionano的总裁兼首席执行官Erik Holmlin评论道:"大约50%的骨骼和软组织肿瘤样本未能揭示可用于疾病分类、预后和治疗管理的可操作信息,因为它们要么未能培养,要么传统的细胞遗传学技术在灵敏度和特异性上不足以可靠地检测相关变异。我们已经看到OGm在血液癌症中作为细胞遗传学方法的有价值替代品的日益证据,我们非常高兴看到约翰霍普金斯大学的研究人员发布这个令人信服的案例,以扩展OGM在骨骼和软组织肿瘤中的应用。"

The full research publication is available at:

完整的研究出版物可在以下链接获得:

About Bionano

关于BioNano Genomics

Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company's mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services.

Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company's mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGm solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGm-based diagnostic testing services.

For more information, visit or .

欲了解更多信息,请访问 或 。

Bionano's products are for research use only and not for use in diagnostic procedures.

BioNano的产品仅供研究使用,不能用于诊断程序。

Forward-Looking Statements of Bionano Genomics

BioNano Genomics的前瞻性声明

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as "can," "could," "potential," and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, OGM's utility for applications in bone and soft tissue cancers; OGM's ability to detect SVs and CNVs concordant with traditional cytogenetic methods, including karyotyping and FISH; OGM's ability to detect SVs and CNVs not detected with transitional cytogenetic methods; the utility and ability of OGM to detect diagnostically relevant or pathogenic SVs and CNVs; the ability of OGM and NGS in combination to detect more SVs than when combining karyotyping, FISH and NGS; the potential for OGM to be useful in qualifying subjects for targeted therapies or clinical trials; the utility of OGM for uses described in the publication referenced in this press release; the ability of OGM to re-characterized and better defined complex structural rearrangements when compared to traditional cytogenetic methods; OGM's ability and utility for adoption across a wider spectrum of cancers including blood, bone and soft tissue cancers and the increase in adoption and utilization as an alternative to traditional cytogenetic methods; the utility of OGM for applications in areas reported in this press release; and other statements that are not historical facts. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: global and macroeconomic events, such as recent and potential bank failures, supply chain disruptions, global pandemics, inflation, and the ongoing conflicts between Ukraine and Russian and Israel and Hamas, on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; the failure of OGM to prove useful for applications in bone and soft tissue cancers; the failure of OGM to detect SVs concordant with traditional cytogenetic methods, including karyotyping and FISH; the failure of OGM to detect SVs and CNVs not detected with transitional cytogenetic methods; the failure of OGM to detect diagnostically relevant or pathogenic SVs and CNVs; the failure of OGM to prove useful for applications described in the publication referenced in this press release; the failure of OGM to be more widely adopted across a wider spectrum of cancers including blood, bone and soft tissue cancers and the increase in adoption and utilization as an alternative to traditional cytogenetic methods; the failure of OGM and NGS in combination to detect more SVs than when combining karyotyping, FISH and NGS; the failure of OGM to be useful in qualifying subjects for targeted therapies or clinical trials; the failure of OGM to prove useful for applications in areas reported in this press release; the failure of OGM to re-characterized and better defined complex structural rearrangements when compared to traditional cytogenetic methods future publications that contradict the findings of the publication referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; our ability to effectively manage our uses of cash, and our ability to continue as a "going concern"; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2023 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

本新闻稿包含根据《1995年私人证券诉讼改革法》定义的前瞻性声明。像“可以”、“可能”、“潜在”等词汇(以及其他提及未来事件、控件或情况的词汇或表达)传达了未来事件或结果的不确定性,旨在识别这些前瞻性声明。前瞻性声明包括关于我们的意图、信念、预测、前景、分析或当前期望的陈述,涉及OGM在骨骼和软组织癌症应用中的有效性;OGM与传统细胞遗传学方法(包括细胞核型分析和FISH)一致检测SVs和CNVs的能力;OGM检测过渡性细胞遗传学方法未检测到的SVs和CNVs的能力;OGM在诊断相关或致病SVs和CNVs检测方面的效用和能力;OGM和NGS组合在检测SVs方面的能力优于结合细胞核型分析、FISH和NGS时的表现;OGM在确定主题参与靶向治疗或临床试验的潜力;OGM在本新闻稿提及的出版物中描述的用途的效用;OGM在重新表征和更好地定义复杂结构重排方面的能力,相较于传统细胞遗传学方法;OGM在更广泛的癌症领域(包括血液、骨骼和软组织癌症)的应用能力和有效性,作为传统细胞遗传学方法的替代方案的采纳和使用的增加;OGM在本新闻稿中报告的领域应用的效用;以及其他不是历史事实的陈述。每个这样的前瞻性声明都涉及风险和不确定性。实际结果或进展可能与这些前瞻性声明中预测或暗示的结果明显不同。可能导致这种差异的因素包括与以下内容相关的风险和不确定性:全球和宏观经济事件,如最近和潜在的银行倒闭、供应链中断、全球大流行、通货膨胀,以及乌克兰与俄罗斯和以色列与哈马斯之间的持续冲突对我们的业务和全球经济的影响;一般市场状况;竞争格局的变化和新竞争技术的引入或现有技术的改进;OGM未能证明在骨骼和软组织癌症应用中的有效性;OGM未能与传统细胞遗传学方法(包括细胞核型分析和FISH)的一致性检测SVs;OGM未能检测过渡性细胞遗传学方法未能检测到的SVs和CNVs;OGM未能检测诊断相关或致病SVs和CNVs;OGM未能证明在本新闻稿提及的出版物中的应用有效性;OGM未能在包括血液、骨骼和软组织癌症在内的更广泛癌症范围内更广泛地被采纳作为传统细胞遗传学方法的替代方案;OGM和NGS组合未能在检测SVs方面表现优于结合细胞核型分析、FISH和NGS;OGM未能证明在确定主题参与靶向治疗或临床试验中的实用性;OGM未能证明在本新闻稿中描述的领域中的应用有效性;OGM未能在重新表征和更好地定义复杂结构重排方面的能力,相较于传统细胞遗传学方法;未来的出版物与本新闻稿所提及的出版物的发现矛盾;我们战略和商业计划的变化;我们获得足够融资以支持我们的战略计划和商业化努力的能力;我们有效管理现金使用的能力,以及我们作为“持续经营”开展业务的能力;医疗和研究机构获得资金以支持采用或继续使用我们技术的能力;以及与我们业务和财务状况相关的风险和不确定性,包括我们向证券交易委员会提交的文件中描述的风险和不确定性,包括,但不限于,2023年12月31日结束的年度报告(Form 10-k)中以及我们随后向证券交易委员会提交的其他文件。所有在本新闻稿中包含的前瞻性声明仅代表其发表之日的观点,并基于管理层在该日期的假设和估计。我们不承担任何公开更新前瞻性声明的义务,无论是由于收到新信息、未来事件的发生还是其他原因。

CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com

联系方式
公司联系:
Erik Holmlin,首席执行官
BioNano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com

Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625
IR@bionano.com

投资者关系:
大卫·霍姆斯
吉尔马丁集团
+1 (858) 888-7625
IR@bionano.com


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Source: Bionano Genomics

来源:BioNano Genomics

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