Navigation Links
Dartmouth scientists identify genetic blueprint for cancerous tumors of the appendix
Date:5/12/2014

Using next generation DNA sequencing, Dartmouth scientists have identified potentially actionable mutations in cancers of the appendix. Their study, "Molecular Profiling of Appendiceal Epithelial Tumors Using Massively Parallel Sequencing to Identify Somatic Mutations," was published in the journal Clinical Chemistry today. When specific mutations for a cancer type are identified, patients can be treated with chemotherapy or other targeted agents that work on those mutations.

Little is known about the molecular biology of two types of appendix tumors, low-grade appendiceal mucinous neoplasm (LAMN) and adenocarcinoma, but both can lead to pseudomyxoma peritonea (PMP), a critical condition in which cancerous cells grow uncontrollably along the wall of the abdomen and can crush digestive organs.

Dartmouth pathologists studied 38 specimens of LAMN and adenocarcinoma tumors (some of which had progressed to PMP) from their archives to look for shared genetic errors that might be responsible for the abnormal cell growth. Tissue samples were sequenced using the AmpiSeq Hotspot Cancer Panel v2, which pathologists had verified for the clinical screening of mutations in 50 common cancer-related genes for which treatments exist. This was the first study making use of a multigene panel in appendiceal cancers to support the use of potential targeted therapies.

"We routinely use this molecular profiling approach on all of our lung adenocarcinomas, melanomas, colon cancers, and gliomas," said Gregory Tsongalis, PhD, principal investigator for the study and director of Molecular Pathology at Dartmouth-Hitchcock Norris Cotton Cancer Center. He says examining an individual tumor profile has the potential to significantly alter patient outcome in a positive way.

KRAS and GNAS mutations were the most common alterations identified in the study. Twelve distinct abnormalities were mapped to the KRAS gene. Additional mutations were identified (i.e., AKT1, APC, JAK3, MET, PIK3CA, RB1, and STK11 for LAMN and TP53, GNAS, and RB1 for adenocarcinoma) in the four sample types studied. Seven of these mutations were shared by more than one group, which suggests there is some molecular similarity.

"These findings suggest that tumors of the appendix, although rare and very aggressive, are distinct entities and have subclasses of disease within each category that are different from each other based on their mutation profile," said Tsongalis. "New therapeutic approaches may be able to target those pathways that are mutated in these tumor types."

This laboratory research has the potential to change clinical practice if physicians now develop treatment plans to target the identified genetic mutations. "Our success in the Dartmouth-Hitchcock Medical Center Department of Pathology at the Norris Cotton Cancer Center is attributed to our multidisciplinary approach to these discoveries, which truly allow us to bring scientific findings from the bench to the bedside," said Tsongalis.


'/>"/>

Contact: Robin Dutcher
Robin.dutcher@hitchcock.org
603-653-9056
The Geisel School of Medicine at Dartmouth
Source:Eurekalert

Related medicine news :

1. Anti-smoking TV ads should use anger, Dartmouth-Cornell study suggests
2. Dartmouth awarded lead role in NCI clinical trials network
3. Dartmouth researchers develop new approach to chronic lymphocytic leukemia treatment
4. Dartmouth study provides first global evidence that foreign aid boosts public opinion
5. Dartmouth researcher finds novel genetic patterns that make us rethink biology and individuality
6. Clemson, Dartmouth use $1.5M grant to develop mobile health technology
7. Dartmouth researchers receive $5.9 million grant from NIH for lung research
8. Dartmouth researchers develop molecular switch that changes liquid crystal colors
9. Dartmouth researchers test safety of Nivolumab in kidney cancer
10. Leap in leukemia treatment reported by Dartmouth researchers
11. Dartmouth medical research closes in on new tuberculosis vaccine
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/30/2016)... ... April 30, 2016 , ... The ... , a program to critically evaluate and rank health-focused applications and connected devices ... to provide independent, unbiased and accurate information to help accelerate patient and provider ...
(Date:4/30/2016)... (PRWEB) , ... April 30, 2016 , ... Orlando-based Maximized ... as they go for gold in Rio. Under the care of Maximized Living ... golds! , In an unprecedented showing, Maximized Living is sending the largest contingent of ...
(Date:4/29/2016)... (PRWEB) , ... April 29, 2016 , ... ... notified by the Accreditation Council for Graduate Medical Education (ACGME) that it has ... This is the first accreditation of three residency programs that Memorial is currently ...
(Date:4/29/2016)... CA (PRWEB) , ... April 29, 2016 , ... ... advocating optimistic healthcare awareness and author of best seller "LOVE, MEDICINE and MIRACLES") ... Radio Monday, May 2, 2016 and podcasted thereafter . Dr. Bernie Siegel, ...
(Date:4/29/2016)... ... 2016 , ... Spine Team Texas, a comprehensive spine physician group specializing in ... physicians has been invited to be a featured speaker at the Texas Society of ... April 30, 2016. , Dr. R. Scott McPherson, a physical medicine and rehabilitation ...
Breaking Medicine News(10 mins):
(Date:4/27/2016)... Switzerland , April 27, 2016 ... AG announced the launch of a Phase 2 clinical ... residual hearing in patients undergoing cochlear implantation (CI) surgery. ... recruiting patients in Germany and ... into the middle ear at the time of surgery. ...
(Date:4/26/2016)... 26, 2016 Hill-Rom Holdings, Inc. (NYSE: ... at the Deutsche Bank 41 st Annual Health Care ... You are invited to listen to the live ... access it directly at http://edge.media-server.com/m/p/mr4uxgas . A recorded replay ... of the live event and accessible at the links above ...
(Date:4/26/2016)... , April 27, 2016 Research ... "Global Molecular Diagnostics Market 2016-2020" report to their ... , ,The global molecular diagnostics market is projected to ... 2016-2020. Molecular diagnostics is a technique that ... the molecular level to detect changes in biochemical pathways. ...
Breaking Medicine Technology: