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
- 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
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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
- 在迄今爲止最大的骨骼和軟組織腫瘤研究中,OGm 檢測到了所有通過多種標準技術發現的變異,包括染色體核型分析、熒光原位雜交 (FISH) 和基因融合檢測。
- OGm 的敏感性也更高,包括在 74%(14/19)的病例中檢測到的由核型分析漏掉的診斷性或致病性變異,這些病例在覈型分析中未能或結果爲陰性。
- 當合並 OGm 結果和下一代測序 (NGS) 結果時,約 98% 的病例發現了診斷性和致病性結構變異 (SVs)、拷貝數變異 (CNVs) 和/或單核苷酸變異 (SNVs),這一比例遠高於使用核型分析、FISH 和 NGS 時的結果。
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.
聖地亞哥,2024年12月23日(全球新聞通訊)-- BioNano Genomics, Inc.(納斯達克:BNGO)今天宣佈,約翰霍普金斯大學醫學院的一組研究人員在《現代病理學》上發表了一篇論文,表明光學基因組測序(OGM)在骨骼和軟組織腫瘤分析中可以超過傳統技術。幾篇之前的發表文章已經顯示了OGM在血液惡性腫瘤研究中相比傳統細胞遺傳學的實用性,但關於OGM在實質性腫瘤應用的數據相對較少。這項研究爲將OGM的應用擴展到腫瘤以外的血液惡性腫瘤提供了有力支持。
Key findings:
主要發現:
- 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).
- 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.
- 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.
- 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.
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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.
- OGm檢測到所有傳統細胞遺傳學揭示的變異:OGm顯示出100%的一致性,識別所有標準護理細胞遺傳學方法檢測到的致病變異。OGm的特異性評估爲100%,即OGm正確識別了標準護理/常規細胞遺傳學(核型分析和熒光原位雜交)檢測到的相同致病SV和CNV。
- OGm檢測到核型分析遺漏的致病變異:在74%的正常或失敗核型分析案例中,OGm檢測到了核型分析遺漏的診斷性或致病SV。此外,在6個由於培養失敗而未能獲得任何核型分析結果的案例中,OGm在所有案例中均檢測到了致病SV。OGm發現的變異但標準護理遺漏的包括EWSR1::ETV1融合,這是清細胞肉瘤的關鍵分子標誌,有助於將其與其他軟組織肉瘤和黑色素瘤區分開。
- OGm解析了複雜的癌症基因組:研究作者發現,與傳統細胞遺傳學方法相比,OGm數據能夠重新表徵和更好地定義複雜的結構重排,包括在27%的案例中發現的染色體重組症和在15%的案例中發現的複雜3-6路易位。
- OGm與NGS結合在98%的案例中找到了致病變異,遠高於核型分析、熒光原位雜交和NGS聯用時的檢測率:OGm與NGS組合的綜合方法使在~98%的案例中檢測到致病SV和序列變異。OGm在染色體不等倍體檢測方面與NGS的結果一致率爲100%。
- OGm的發現有潛力使受試者符合其他可能無法實現的靶向療法的資格:作者指出,OGm的一些發現可能導致這些病例有資格接受靶向治療或參與臨牀試驗。例如,可能利用CDK4/6抑制劑(帕博西利、利布西利、阿貝西利)、TRk抑制劑(來託昔尼、恩曲替尼)或全FGFR抑制劑(厄達非尼或富替尼)的病例被突出強調。
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的總裁兼首席執行官Erik Holmlin評論道:"大約50%的骨骼和軟組織腫瘤樣本未能揭示可用於疾病分類、預後和治療管理的可操作信息,因爲它們要麼未能培養,要麼傳統的細胞遺傳學技術在靈敏度和特異性上不足以可靠地檢測相關變異。我們已經看到OGm在血液癌症中作爲細胞遺傳學方法的有價值替代品的日益證據,我們非常高興看到約翰霍普金斯大學的研究人員發佈這個令人信服的案例,以擴展OGM在骨骼和軟組織腫瘤中的應用。"
The full research publication is available at:
完整的研究出版物可在以下鏈接獲得:
About Bionano
關於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 .
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Bionano's products are for research use only and not for use in diagnostic procedures.
BioNano的產品僅供研究使用,不能用於診斷程序。
Forward-Looking Statements of Bionano Genomics
BioNano Genomics的前瞻性聲明
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.
本新聞稿包含根據《1995年私人證券訴訟改革法》定義的前瞻性聲明。像「可以」、「可能」、「潛在」等詞彙(以及其他提及未來事件、控制項或情況的詞彙或表達)傳達了未來事件或結果的不確定性,旨在識別這些前瞻性聲明。前瞻性聲明包括關於我們的意圖、信念、預測、前景、分析或當前期望的陳述,涉及OGM在骨骼和軟組織癌症應用中的有效性;OGM與傳統細胞遺傳學方法(包括細胞核型分析和FISH)一致檢測SVs和CNVs的能力;OGM檢測過渡性細胞遺傳學方法未檢測到的SVs和CNVs的能力;OGM在診斷相關或致病SVs和CNVs檢測方面的效用和能力;OGM和NGS組合在檢測SVs方面的能力優於結合細胞核型分析、FISH和NGS時的表現;OGM在確定主題參與靶向治療或臨牀試驗的潛力;OGM在本新聞稿提及的出版物中描述的用途的效用;OGM在重新表徵和更好地定義複雜結構重排方面的能力,相較於傳統細胞遺傳學方法;OGM在更廣泛的癌症領域(包括血液、骨骼和軟組織癌症)的應用能力和有效性,作爲傳統細胞遺傳學方法的替代方案的採納和使用的增加;OGM在本新聞稿中報告的領域應用的效用;以及其他不是歷史事實的陳述。每個這樣的前瞻性聲明都涉及風險和不確定性。實際結果或進展可能與這些前瞻性聲明中預測或暗示的結果明顯不同。可能導致這種差異的因素包括與以下內容相關的風險和不確定性:全球和宏觀經濟事件,如最近和潛在的銀行倒閉、供應鏈中斷、全球大流行、通貨膨脹,以及烏克蘭與俄羅斯和以色列與哈馬斯之間的持續衝突對我們的業務和全球經濟的影響;一般市場狀況;競爭格局的變化和新競爭技術的引入或現有技術的改進;OGM未能證明在骨骼和軟組織癌症應用中的有效性;OGM未能與傳統細胞遺傳學方法(包括細胞核型分析和FISH)的一致性檢測SVs;OGM未能檢測過渡性細胞遺傳學方法未能檢測到的SVs和CNVs;OGM未能檢測診斷相關或致病SVs和CNVs;OGM未能證明在本新聞稿提及的出版物中的應用有效性;OGM未能在包括血液、骨骼和軟組織癌症在內的更廣泛癌症範圍內更廣泛地被採納作爲傳統細胞遺傳學方法的替代方案;OGM和NGS組合未能在檢測SVs方面表現優於結合細胞核型分析、FISH和NGS;OGM未能證明在確定主題參與靶向治療或臨牀試驗中的實用性;OGM未能證明在本新聞稿中描述的領域中的應用有效性;OGM未能在重新表徵和更好地定義複雜結構重排方面的能力,相較於傳統細胞遺傳學方法;未來的出版物與本新聞稿所提及的出版物的發現矛盾;我們戰略和商業計劃的變化;我們獲得足夠融資以支持我們的戰略計劃和商業化努力的能力;我們有效管理現金使用的能力,以及我們作爲「持續經營」開展業務的能力;醫療和研究機構獲得資金以支持採用或繼續使用我們技術的能力;以及與我們業務和財務狀況相關的風險和不確定性,包括我們向證券交易委員會提交的文件中描述的風險和不確定性,包括,但不限於,2023年12月31日結束的年度報告(Form 10-k)中以及我們隨後向證券交易委員會提交的其他文件。所有在本新聞稿中包含的前瞻性聲明僅代表其發表之日的觀點,並基於管理層在該日期的假設和估計。我們不承擔任何公開更新前瞻性聲明的義務,無論是由於收到新信息、未來事件的發生還是其他原因。
CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com
聯繫方式
公司聯繫:
Erik Holmlin,首席執行官
BioNano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com
Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625
IR@bionano.com
投資者關係:
大衛·霍姆斯
吉爾馬丁集團
+1 (858) 888-7625
IR@bionano.com
Source: Bionano Genomics
來源:BioNano Genomics