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:5/27/2016)... ... ... Beleza Medspa has initiated a new program to assist active duty ... that Coolsculpting is being used for for more than just cosmetic purposes. ... prescribed body-fat standard, measured by the circumference-based tape method. The tape-test is used ...
(Date:5/27/2016)... ... 27, 2016 , ... Aimed at nurses and employees in the health care ... leaders in the nursing and health care industry. It also provides insight to the ... University. , As the nursing industry is coming out of one of the ...
(Date:5/27/2016)... ... ... With a team of certified experts, Validation Center is ... GMP accreditation, Validation Center is also a registered authority of the international system ... Validation Center is ISO17025 accredited and only offers its clients the latest technology, ...
(Date:5/26/2016)... ... ... There are many ways to cook a hot dog, but new research ... their dogs straight off the grill. Of the 90 percent of Americans who say ... a hot dog, far outpacing other cooking methods such as steaming (12 percent), microwaving ...
(Date:5/26/2016)... ... May 26, 2016 , ... Cabot Corporation, Pfizer, and 3M ... to court documents and SEC filings. A jury has returned a verdict ... Optical Corporation, Case No. BC588866, Los Angeles County, California. The jury awarded $22.8 ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... FDA 510(k) clearance covers ... for urological and surgical applications Mauna ... Cellvizio®, the multidisciplinary confocal laser endomicroscopy (CLE) platform, ... US with the 12 th 510(k) clearance ... This new FDA clearance covers Confocal Miniprobes indicated ...
(Date:5/25/2016)... -- According to Kalorama Information, the world market for ... these are challenging times in the market, there ... companies that remain optimistic and seek innovation.  Toward ... medical device companies spend a higher percentage of ... do companies in other industries.  Also, in addition ...
(Date:5/25/2016)... PARIS , May 25, 2016 ... system disorders, announces that an oral presentation entitled "High doses ... the MS-SPI trial" will be given by Professor Ayman ... the 2nd Congress of the European Academy of Neurology (EAN) ... "MS and related disorders 3" will take place on Sunday, ...
Breaking Medicine Technology: