Identification of RNF43 Mutations in Pancreatic Cysts

Case ID:
C11769
Disclosure Date:
11/9/2011

Unmet Need

·        One third of diagnoses for surgical resection of pancreatic cysts are incorrect, leading to unnecessary surgery, medical risk, and high costs (Hammel, 2002). The current standard of care for determining pancreatic cyst type is based solely on symptom progression and imaging criteria, and histopathological analysis is only available following surgical resection. Thus, there is a strong need for developing improved assays for more accurate determination of pancreatic cyst type to inform surgical decisions and reduce unnecessary medical risks.

 

Value Proposition

·        Determination of unique genetic signature that distinguishes benign and malignant pancreatic cyst types

·        Validated genetic screen can reduce misidentification of cyst type compared to standard diagnostic techniques

·        Ability to determine pancreatic cyst type from cyst fluid, mitigating the need for surgery


Technology Description

·        Researchers at Johns Hopkins have developed a set of genetic tests to differentially identify the type of pancreatic cyst without surgical resection. Various genes are tested for mutations, loss of heterozygosity, and/or aneuploidy. The pattern of these alterations can elucidate the type of pancreatic cyst. Data demonstrates these diagnoses can be performed on cyst fluid, which can be obtained without surgery.

 

Stage of Development

Pre-Clinical

 

Data Availability

·        Data available upon request.

 

Publications

Wu J, et al. Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):21188-93. doi: 10.1073/pnas.1118046108. Epub 2011 Dec 8. PMID: 22158988; PMCID: PMC3248495.


Springer S, et al. A combination of molecular markers and clinical features improve the classification of pancreatic cysts. Gastroenterology. 2015 Nov;149(6):1501-10. doi: 10.1053/j.gastro.2015.07.041. Epub 2015 Aug 4. PMID: 26253305; PMCID: PMC4782782.

Patent Information:
Title App Type Country Serial No. Patent No. File Date Issued Date Expire Date Patent Status
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty Australia 2012339835 2012339835 11/12/2012 5/12/2016 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty Japan 2014-542363 5947392 11/12/2012 6/10/2016 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts DIV: Divisional Japan 2016-110734   11/12/2012     Pending
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty France 12849091.9 2780473 11/12/2012 7/19/2017 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty Germany 60 2012 034 863.1 2780473 11/12/2012 7/19/2017 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty United Kingdom 12849091.9 2780473 11/12/2012 7/19/2017 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty European Patent Office 12849091.9 2780473 11/12/2012 7/19/2017 11/12/2032 Granted
Identification of RNF43 Mutations in Pancreatic Cysts PCT: Patent Cooperation Treaty United States 14/359,149 9,637,796 5/19/2014 5/2/2017 11/12/2032 Granted
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For Information, Contact:
Jeanine Pennington
jpennin5@jhmi.edu
410-614-0300
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