Navigation Links
First Discovery Of Actionable Genetic Alterations In A Deadly Cancer Reported By Personal Genome Diagnostics And Blueprint Medicines

BALTIMORE and CAMBRIDGE, Mass., Sept. 19, 2014 /PRNewswire/ -- Personal Genome Diagnostics Inc. (PGDx), a provider of advanced cancer genome analysis and testing services, and Blueprint Medicines, a leader in discovering and developing highly selective kinase inhibitors for genomically defined cancers, today disclosed the first-ever comprehensive genomic study of malignant mixed Mullerian tumors (MMMT), an aggressive and deadly cancer of the female reproductive system, also known as carcinosarcoma. The new study, published in the current online edition of Nature Communications, uncovers genetic alterations previously not associated with MMMT.1 These genetic alterations likely play a role in development of the tumors and can serve as targets for anticancer drugs.

Researchers from PGDx and Blueprint Medicines, with colleagues from Johns Hopkins University and Oregon Health and Science University, discovered that MMMT/carcinosarcomas have many mutations located in clinically relevant genes, such as PIK3CA, KRAS and DNA repair pathway genes. Some of these previously unidentified genetic mutations may be addressed by existing therapies or by investigational drugs currently in clinical trials. 

Sian Jones, PhD, a co-first author of the study and Director of Genomic Analysis at PGDx, commented, "By defining the mutational landscape of this understudied cancer with a poor prognosis, PGDx and Blueprint Medicines were able to identify alterations in specific genes and pathways that may be promising targets for existing and new drug therapies, as well as enabling earlier and more effective diagnoses. It is noteworthy that many of the genetic alterations we identified were not previously associated with MMMT/carcinosarcomas. These findings show how comprehensive genomic analysis of a complex type of cancer can increase understanding of the condition, identify potential new treatment options and enable personalized patient management."

The analysis also revealed that a high fraction of mutations were in "chromatin remodeling" genes, which regulate the structure of chromosomes and, when mutated, are thought to have dramatic effects on the biology of the cell. Chromatin remodeling genes are currently being evaluated as potential targets for epigenetic and other novel therapies.

"The collaborative work between Blueprint Medicines and PGDx demonstrates our resolute commitment to uncovering the genomic drivers of underserved cancers and sharing this information broadly to improve cancer research, diagnosis and treatment for the benefit of patients," said Christoph Lengauer, PhD, MBA, Chief Scientific Officer of Blueprint Medicines. "Our research further shows the potential of the Blueprint and PGDx platforms to develop innovative genomics-based techniques and tools to elucidate novel genomic drivers of cancer for drug discovery purposes."

Authors of the study include PGDx co-founders and Johns Hopkins cancer researchers Dr. Victor Velculescu and Dr. Luis Diaz, and Blueprint Medicines' Chief Scientific Officer Dr. Lengauer.

  1. Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes, Sian Jones, Nicolas Stransky, Christine L. McCord, Ethan Cerami, James Lagowski, Devon Kelly, Samuel V. Angiuoli, Mark Sausen, Lisa Kann, Manish Shukla, Rosemary Makar, Laura D. Wood, Luis A. Diaz Jr, Christoph Lengauer & Victor E. Velculescu, Nature Communications, Sept. 19, 2014, http://dx.doi.org10.1038/ncomms6006

About Personal Genome Diagnostics                                 
Personal Genome Diagnostics (PGDx) provides advanced cancer genome analyses to oncology researchers, drug developers, clinicians and patients. The company uses advanced genomic methods and its deep expertise in cancer biology to identify and characterize the unique genomic alterations in tumors.  PGDx's proprietary methods for genome sequencing and analysis are complemented by its extensive experience in cancer genomics and clinical oncology. The founders of PGDx, Luis Diaz, MD, and Victor Velculescu, MD, PhD, are internationally recognized leaders in cancer genomics at Johns Hopkins University who have extensive experience in the practical application of advanced genomic technologies to drug development and clinical practice. PGDx's CLIA-certified facility provides personalized cancer genome analyses to patients and their physicians. For more information, visit

About Blueprint Medicines                                                                     
Blueprint Medicines is a patient-driven oncology company discovering and developing highly selective kinase inhibitors for genomically defined cancers. Led by a management team and advisors with world renowned expertise in cancer genomics, drug discovery and clinical oncology, Blueprint Medicines has developed a platform that combines genomics with a novel small molecule library of kinase inhibitors, enabling Blueprint Medicines to rapidly discover potent and highly selective drugs against clear drivers of diseases. Founded in 2011, Blueprint Medicines is privately held and initially backed by Third Rock Ventures and Fidelity BioSciences. For more information, please visit

Media Contacts

Barbara Lindheim      

c/o Personal Genome Diagnostics

BLL Partners, LLC



Corporate/Investor Relations

Antony Newton

Personal Genome Diagnostics

Chief Commercial Officer    


David Polk

c/o Blueprint Medicines

Chandler Chicco Companies




Beth DelGiacco

c/o Blueprint Medicines

Stern Investor Relations, Inc.



SOURCE Personal Genome Diagnostics Inc.; Blueprint Medicines
Copyright©2014 PR Newswire.
All rights reserved

Related medicine technology :

1. Fruit Street Health Secures First Round Of Seed Funding Led By Group Of Medical Industry And Technology Leaders
2. VIVUS And Auxilium Announce FDA Approval Of STENDRA sNDA; STENDRA Now First And Only Oral Erectile Dysfunction Treatment Approved To Be Taken Approximately 15 Minutes Before Sexual Activity
3. CVS Health Research Institute Provides First Look at Treatment with New Hepatitis C Therapies
4. Debiopharm Diagnostics Portfolio Company Biocartis Ships its First Idylla Instrument
6. DNAtrix Announces Treatment Of First Patient With DNX-2401 In Recurrent Glioblastoma Trial
7. First European Patients Enrolled in QT Vasculars ENDURE Trial
8. Lupus Research Institute Launches NYCs First Lupus Trials Fair
9. Scripps Offers Insights into Nations First All Pencil-Beam Proton Center
10. Champions Oncology Reports Results for the First Quarter Ended July 31, 2014
11. Denton Vacuum Introduces Vitua, the First Automated TEM Sample Preparation System for the Life Sciences
Post Your Comments:
(Date:10/8/2019)... DANA POINT, Calif. (PRWEB) , ... October 08, ... ... of Niguel Coast Oral & Facial Surgery raise awareness of their advanced dental ... treatment. The Dana Point, CA oral surgeons welcome patients with heart conditions, diabetes, ...
(Date:10/8/2019)... ... October 08, 2019 , ... Respected oral and maxillofacial surgeon, ... & Maxillofacial Surgery. This cutting-edge practice serves both Washington, PA and Steubenville, OH ... to predictable jaw surgery with 3D imaging. Dr. Humberger was honored to join ...
(Date:10/8/2019)... ... October 08, 2019 , ... Fresno resident Regina Tanner has been selected ... living donor honoree. Regina will walk alongside the float, Light in the Darkness, during ... nurse and attorney, became a living organ donor in the fall of 2016 when ...
Breaking Medicine Technology:
(Date:10/11/2019)... ... October 11, 2019 , ... Inland Detox, Inc. has just moved ... location has incredible views of the Temecula Valley and it’s the perfect place for ... facility offers both private rooms as well as double occupancy rooms, a 2nd home ...
(Date:10/10/2019)... PURCHASE, N.Y. (PRWEB) , ... October 10, 2019 ... ... of Sports Nutrition) Annual Conference, Nutrition 21 was excited to hear the significant ... studying the significant blood flow impact of Nitrosigine®. The clinical study poster entitled ...
(Date:10/8/2019)... (PRWEB) , ... October 08, 2019 , ... Dr. Amir ... disease in San Jose, CA experience relief from this common and treatable condition. Dr. ... order to save adults from living with uncomfortable symptoms, including tender and bleeding gums, ...
(Date:10/8/2019)... ... October 08, 2019 , ... Over the past three ... a standout in the sports restaurant category by providing a higher-quality product and experience ... fall menu as well as a "RAISE A MUG FOR THE CAUSE" campaign in ...
(Date:10/8/2019)... (PRWEB) , ... October 08, 2019 , ... ... MCN Healthcare to seamlessly integrate skills and procedures content from Dynamic ... to help nurses and allied health professionals master critical skills. MCN provides custom ...
Breaking Medicine News(10 mins):