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:6/26/2016)... ... 2016 , ... Brent Kasmer, a legally blind and certified personal trainer is helping to develop ... The fitness app plans to fix the two major problems leading the fitness industry today:, ... all type program , They don’t eliminate all the reasons people quit their ...
(Date:6/25/2016)... Austin, TX (PRWEB) , ... June 25, 2016 , ... ... Fellow of the American College of Mohs Surgery and to Dr. Russell Peckham for ... popular and highly effective treatment for skin cancer. The selective fellowship in Mohs Micrographic ...
(Date:6/25/2016)... TX (PRWEB) , ... June 25, 2016 , ... ... the United States, named Dr. Sesan Ogunleye, as the Medical Director of its new ... the facility Medical Director of our new Mesquite location,” said Dr. James M. Muzzarelli, ...
(Date:6/25/2016)... ... June 25, 2016 , ... On Friday, June 10, Van Mitchell, ... at Work award to iHire in recognition of their exemplary accomplishments in worksite health ... annual Maryland Workplace Health & Wellness Symposium at the BWI Marriott in Linthicum Heights. ...
(Date:6/24/2016)... ... June 24, 2016 , ... Those who have experienced traumatic events may ... to unhealthy avenues, such as drug or alcohol abuse, as a coping mechanism. To ... for healthy coping following a traumatic event. , Trauma sufferers tend to feel a ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... DUBLIN , June 23, 2016 ... the "Pharmaceutical Excipients Market by Type (Organic Chemical ... Preservative), Formulation (Oral, Topical, Coating, Parenteral) - Global Forecast ... The global pharmaceutical excipients ... 2021 at a CAGR of 6.1% in the forecast ...
(Date:6/23/2016)... June 23, 2016 Research and Markets ... Medical Market Analysis 2016 - Forecast to 2022" report ... The report contains up to date financial data derived from ... of major trends with potential impact on the market during ... market segmentation which comprises of sub markets, regional and country ...
(Date:6/23/2016)... 2016 Bracket , a leading clinical trial ... clinical outcomes platform, Bracket eCOA (SM) 6.0, at the ... – 30, 2016 in Philadelphia , Pennsylvania.  ... Assessment product of its kind to fully integrate with RTSM, ... eCOA 6.0 is a flexible platform for electronic clinical outcomes ...
Breaking Medicine Technology: