Wednesday, May 15, 2013
One book to pre-order for the Summer – Ageless Generation: How Advances in Biomedicine Will Transform the Future of the Global Economy
If you were to pre-order one book for this Summer consider this one. The Ageless Generation: How Advances in Biomedicine Will Transform the Future of the Global Economy.
Accelerating aging research to extend healthy productive lifespan seems to be in everyone's best interest. There are few people on this planet, who would chose to age and gradually succumb to diseases of aging if they were given a choice to live longer and healthier lives.
However, up until recently, the many failed promises of science made many of us resistant to accepting the possibility of the interventions that may take us way beyond the lifespans of our parents and grandparents.
Well, now it is time to open up to these possibilities and get actively involved, because the urgency to accelerate aging research now stems from the economic fundamentals of the aging population in the developed countries.
Aging populations in the developed countries are now the single biggest threat to the global economy. People that are retiring today and that are due to retire in the next decade are going to live extraordinarily long lives due to the advances in biomedicine and propagation of these advanced into the clinical setting.
"The Ageless Generation: How Advances in Biomedicine Will Transform the Global Economy", a book by Alex Zhavoronkov, PhD in very simple layman language drills down into the history of retirement and social security and the present state of the social security, healthcare and the unfunded liabilities of the developed countries. It also takes the reader on a tour of the laboratories in the US, Europe and China, where scientists toil on solving the complex puzzles of regenerative medicine, longevity genes and technologies that will extend our lifespans. Then it looks at the future of retirement and presents the real possibility of the near-term Economic Collapse. There are some solutions and policy proposals, but chances are very small that we will be able to avoid the crisis before we can significantly extend healthy lifespans.
The book will be published by Palgrave Macmillan in June 2013 and is available for pre-order at Amazon and most bookstores worldwide.
Amazon:
http://www.amazon.com/Ageless-Generation-Advances-Biomedicine-Transform/dp/0230342205/
Barnes and Noble:
http://www.barnesandnoble.com/w/the-ageless-generation-alex-zhavoronkov/1113106743
The main idea of this book is that in record time the US must start a coordinated program to increase healthy productive lives of the two generations that are nearing retirement or the whole world will face several decades of economic decline and possible collapse. The need to fight aging is no longer an altruistic initiative, but a real economic necessity.
Recent advances in biomedicine will extend the lifespans of the two generations due to retire within the next twenty years; however, unless there are programs in place to keep them healthy and working, the burden of the aging population will drive the global economy into the state of depression or even worse. Developed countries should re-focus the research programs from just extending lifespans to extending health spans and the retirement age to remain solvent and this initiative must be led by the beating heart and the brain of the world's economy - the United States of America.
Every reader of this post must consider the possibility of radical extension of healthy life through biomedicine. One thing you should do right now is to stretch the expected horizons to 150 years. Yes, it is possible! Even if we let some of the major advances that already happened to converge and reach the clinic, 150 years of life is the very minimum of what a 40-year old today should expect.
One way to prepare for it is to pack up and prepare yourself and your family to live through the economic collapse. Another way is to actively engage in supporting aging research by engaging in government lobbying, supporting research directly or even engaging in research personally.
Here is a link to Macmillan's page for this book: http://us.macmillan.com/theagelessgeneration/AlexZhavoronkov
And here is a Facebook page: https://www.facebook.com/TheagelessGeneration
Wednesday, April 17, 2013
One facinating female scientist from Russia
Russia as the country may not be contributing much to the global
progress in biomedicine, but without doubt it gives birth to many bright
scientists.
One of such rare gems is Maria Litovchenko, a student at the Moscow Institute of Physics and Technology, scientist at the FRC Center for Pediatric Hematology, Oncology and Immunology, research associate at the Biogerontology Research Foundation and the organizer of the First Open Institute for Regenerative Medicine for Young Scientists. All that before turning 20!
We recently reviewed her paper on possible novel approaches to ameliorating progeria in kids.
When she is not working at the lab or sleeping, she is either programming or initiating the outreach programs to promote women in science. She is an avid advocate of aging research.
This week she is presenting at TEDMED Russia with a talk "Power to the Patient: From Personalized Medicine to Personalized Science".
Kudos, Maria!
Maria's Science Blog
You should definitely take a look at her ABOUT US page.
One of such rare gems is Maria Litovchenko, a student at the Moscow Institute of Physics and Technology, scientist at the FRC Center for Pediatric Hematology, Oncology and Immunology, research associate at the Biogerontology Research Foundation and the organizer of the First Open Institute for Regenerative Medicine for Young Scientists. All that before turning 20!
We recently reviewed her paper on possible novel approaches to ameliorating progeria in kids.
When she is not working at the lab or sleeping, she is either programming or initiating the outreach programs to promote women in science. She is an avid advocate of aging research.
This week she is presenting at TEDMED Russia with a talk "Power to the Patient: From Personalized Medicine to Personalized Science".
Kudos, Maria!
Maria's Science Blog
You should definitely take a look at her ABOUT US page.
Wednesday, October 24, 2012
Interesting analytical paper on laminopathies
Potential therapeutic approaches for modulating expression and accumulation of defective lamin A in laminopathies and age-related diseases, Zhavoronkov A, Smit-McBride Z, Guinan KJ, Litovchenko M, Moskalev A., J Mol Med (Berl). 2012 Oct 23
Interesting view on the possible mechanisms for treating progeria in kids.
Interesting view on the possible mechanisms for treating progeria in kids.
Monday, March 14, 2011
A REVOLUTIONARY NEW TOOL FOR BIOMEDICAL RESEARCH: AGINGPORTFOLIO.ORG
While we still like the NIH RePORT tool, there is another great resource for analyzing grants, publications and other research materials in biomedical science - The International Aging Research Portfolio .
We performed a search using "cancer biomarker" in the advanced search and got great results. These are only top 25 results, but it is possible to see almost all of them at once and the Spore Grants have excellent descriptions.
We went ahead and Liked them at their FaceBook Page!
It is also possible to see the results as graphs and play around with the statistics.
We performed a search using "cancer biomarker" in the advanced search and got great results. These are only top 25 results, but it is possible to see almost all of them at once and the Spore Grants have excellent descriptions.
We went ahead and Liked them at their FaceBook Page!
It is also possible to see the results as graphs and play around with the statistics.
Search results
Search Keywords In: Title, Description, Tags
Keywords: "cancer biomarker"
Total Funding: $ 137,209,529
Total amount of an all project funded matched specified criteria.
In other words, sum of the "Funding" column by the all found records.
Number Of Funding: 304
Total count of an all project funded matched specified criteria.
In other words, count of the found rows in grid below.
Number Of Projects: 302
Total count of an unique projects matched specified criteria.
In other words, count of an unique projects, by which found funded were made.
Loading...
Project Funding
Project number | Project title | Investigators | Recipient organization | Funding organization | Year | Funding | Aging Limit ID |
|---|
| 1U24CA126476-01 | Measuring cancer biomarker candidates by targeted ms and ab enrichment | CARR STEVENA | MASSACHUSETTS INSTITUTE OF TECHNOLOGY | NATIONAL CANCER INSTITUTE | 2006 | $2,904,304 | 4 |
| 5U24CA126476-05 | Measuring cancer biomarker candidates by targeted ms and ab enrichment | CARR STEVENA | BROAD INSTITUTE, INC. | NATIONAL CANCER INSTITUTE | 2009 | $2,833,858 | 4 |
| 5U24CA126476-02 | Measuring cancer biomarker candidates by targeted ms and ab enrichment | CARR STEVENA | MASSACHUSETTS INSTITUTE OF TECHNOLOGY | NATIONAL CANCER INSTITUTE | 2007 | $2,764,919 | 4 |
| 5U54CA116847-02 | Mechanisms of energy balance and cancer prevention | MCTIERNAN ANNEM | FRED HUTCHINSON CANCER RESEARCH CENTER | NATIONAL CANCER INSTITUTE | 2006 | $2,506,320 | 0 |
| 2P50CA058184-09 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2003 | $2,500,000 | 4 |
| 5P50CA058184-10 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2004 | $2,491,531 | 4 |
| 5P50CA058184-11 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2005 | $2,490,165 | 4 |
| 5U54CA116847-04 | Mechanisms of energy balance and cancer prevention | MCTIERNAN ANNEM | FRED HUTCHINSON CANCER RESEARCH CENTER | NATIONAL CANCER INSTITUTE | 2008 | $2,478,429 | 0 |
| 1U54CA116847-01 | Mechanisms of energy balance and cancer prevention | MCTIERNAN ANNEM | FRED HUTCHINSON CANCER RESEARCH CENTER | NATIONAL CANCER INSTITUTE | 2005 | $2,472,758 | 0 |
| 5U54CA116847-03 | Mechanisms of energy balance and cancer prevention | MCTIERNAN ANNEM | FRED HUTCHINSON CANCER RESEARCH CENTER | NATIONAL CANCER INSTITUTE | 2007 | $2,463,212 | 0 |
| 5U54CA116847-05 | Mechanisms of energy balance and cancer prevention | MCTIERNAN ANNEM | FRED HUTCHINSON CANCER RESEARCH CENTER | NATIONAL CANCER INSTITUTE | 2009 | $2,461,328 | 0 |
| 5P50CA058184-12 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2006 | $2,430,329 | 4 |
| 5P50CA058184-13 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2007 | $2,359,850 | 4 |
| 2P50CA058184-14A1 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2009 | $2,300,000 | 0 |
| R44CA139803-02 | Field of injury based biomarkers for lung cancer | HALLAM E | ALLEGRO DIAGNOSTICS, INC. | NATIONAL CANCER INSTITUTE | 2010 | $1,823,081 | 4 |
| 5U24CA126476-03 | Measuring cancer biomarker candidates by targeted ms and ab enrichment | CARR STEVENA | MASSACHUSETTS INSTITUTE OF TECHNOLOGY | NATIONAL CANCER INSTITUTE | 2008 | $1,758,222 | 4 |
| 7U24CA126477-02 | Targeted and global proteomic strategies for early breast cancer detection | FISHER SUSANJ | UNIVERSITY OF CALIFORNIA SAN FRANCISCO | NATIONAL CANCER INSTITUTE | 2006 | $1,711,403 | 0 |
| P50CA058184-15 | Spore in lung cancer | BAYLIN B | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2010 | $1,710,038 | 0 |
| 5U24CA126477-04 | Targeted and global proteomic strategies for early breast cancer detection | FISHER SUSANJ | UNIVERSITY OF CALIFORNIA SAN FRANCISCO | NATIONAL CANCER INSTITUTE | 2008 | $1,642,172 | 0 |
| 5U24CA126477-03 | Targeted and global proteomic strategies for early breast cancer detection | FISHER SUSANJ | UNIVERSITY OF CALIFORNIA SAN FRANCISCO | NATIONAL CANCER INSTITUTE | 2007 | $1,539,272 | 0 |
| 1R01CA105274-01A1 | Prospective study of breast cancer survivorship | KUSHI LAWRENCEH | KAISER FOUNDATION RESEARCH INSTITUTE | NATIONAL CANCER INSTITUTE | 2004 | $1,487,114 | 4 |
| 1U24CA126480-01 | Apt: the analytical proteomics team | REGNIER FREDE | PURDUE UNIVERSITY WEST LAFAYETTE | NATIONAL CANCER INSTITUTE | 2006 | $1,264,608 | 4 |
| 5U24CA126480-02 | Apt: the analytical proteomics team | REGNIER FREDE | PURDUE UNIVERSITY WEST LAFAYETTE | NATIONAL CANCER INSTITUTE | 2007 | $1,193,024 | 4 |
| 3P50CA058184-13S1 | Spore in lung cancer | BAYLIN STEPHENB | JOHNS HOPKINS UNIVERSITY | NATIONAL CANCER INSTITUTE | 2008 | $1,179,925 | 4 |
| 5U24CA126480-03 | Apt: the analytical proteomics team | REGNIER FREDE | PURDUE UNIVERSITY WEST LAFAYETTE | NATIONAL CANCER INSTITUTE | 2008 | $1,164,358 | 4 |
| View 1 - 25 of 304 |
Friday, January 28, 2011
New epigenetic biomarker test for melanoma?
In a paper that recently appeared online in the journal Pigment Cell & Melanoma Research, a team of UNC researchers tested whether DNA methylation profiling could be accomplished on melanoma and mole tissues that had been preserved in fixatives for typical pathology examination after biopsy. They found that results on tissues prepared in this way were reliable and DNA methylation distinguished malignant melanomas from non-malignant moles.
http://www.sciencedaily.com/releases/2011/01/110124102925.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29&utm_content=Google+Feedfetcher
http://www.sciencedaily.com/releases/2011/01/110124102925.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29&utm_content=Google+Feedfetcher
Friday, November 19, 2010
Advances in Ovarian Cancer Diagnostics
Two interesting articles on OC dx:
Levels of circulating cell-free nuclear and mitochondrial DNA in benign and malignant ovarian tumors.
Rebecca R Zachariah, Seraina Schmid, Nicole Buerki, Ramin Radpour, Wolfgang Holzgreve, Xiaoyan Zhong
Abstract OBJECTIVE: To analyze the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in patients with benign and malignant ovarian tumors using a gold-standard assay and to investigate whether quantitative alterations of the circulating cell-free species have values in the management of the patients. METHODS: One hundred four patients were recruited for this study. We developed a quantitative, multiplex polymerase chain reaction to measure the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in serum and plasma of patients with epithelial ovarian cancer, benign epithelial ovarian tumors, or endometriosis. The levels of the circulating cell-free DNA were compared with those of a healthy, age-matched control group. RESULTS: The patients with epithelial ovarian cancer had significantly higher amounts of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in plasma compared with the healthy control group (mean of nuclear DNA 10,723/2,591 and mean of mitochondrial DNA 4,918,978/2,294,264, P=.009 and 0.022, respectively) and with the other group with benign ovarian diseases (mean of nuclear DNA 10,723/2,965 and mean of mitochondrial DNA 4,918,978/1,597,551, P=.027 and 0.002, respectively). However, no relationship between levels of the circulating cell-free DNA and the pathological parameters as well as CA 125 measurement in patients with epithelial ovarian cancer was found. A significant difference between the epithelial ovarian cancer and endometriosis group was found in circulating cell-free mitochondrial DNA but not in circulating cell-free nuclear DNA (mean of mitochondrial DNA 4,918,978/2,273,988 and mean of nuclear DNA 10,723/3,291, P=.013 and 0.105, respectively). CONCLUSION: Elevated levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in epithelial ovarian cancer may have diagnostic value. Our finding suggests that the circulating molecules might be potential biomarkers in the disease.
Authors Rebecca R Zachariah, Seraina Schmid, Nicole Buerki, Ramin Radpour, Wolfgang Holzgreve, Xiaoyan Zhong (Affiliation: Laboratory for Prenatal Medicine and Gynaecologic Oncology, Women's Hospital/Department of Biomedicine, University of Basel, Basel, Switzerland.)
http://www.curehunter.com/public/pubmed1...
-------------------------------------------------
OncoMap Gene Sequencing Finds 50 Mutations in Ovarian Tumors
By: JENNIE SMITH, Internal Medicine News Digital Network
11/17/10
Mutational analysis using a Sequenom-based technique of ovarian cancer samples has unveiled more mutations than were previously known, and could become part of a personalized standard of care for these difficult-to-treat cancers, according to investigators.
Dr. Ursula Matulonis of Dana-Farber Cancer Institute and Harvard Medical School, both in Boston, plans to elaborate on the findings Nov. 17 at the 22nd EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics in Berlin.......
http://www.internalmedicinenews.com/news...
Levels of circulating cell-free nuclear and mitochondrial DNA in benign and malignant ovarian tumors.
Rebecca R Zachariah, Seraina Schmid, Nicole Buerki, Ramin Radpour, Wolfgang Holzgreve, Xiaoyan Zhong
Abstract OBJECTIVE: To analyze the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in patients with benign and malignant ovarian tumors using a gold-standard assay and to investigate whether quantitative alterations of the circulating cell-free species have values in the management of the patients. METHODS: One hundred four patients were recruited for this study. We developed a quantitative, multiplex polymerase chain reaction to measure the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in serum and plasma of patients with epithelial ovarian cancer, benign epithelial ovarian tumors, or endometriosis. The levels of the circulating cell-free DNA were compared with those of a healthy, age-matched control group. RESULTS: The patients with epithelial ovarian cancer had significantly higher amounts of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in plasma compared with the healthy control group (mean of nuclear DNA 10,723/2,591 and mean of mitochondrial DNA 4,918,978/2,294,264, P=.009 and 0.022, respectively) and with the other group with benign ovarian diseases (mean of nuclear DNA 10,723/2,965 and mean of mitochondrial DNA 4,918,978/1,597,551, P=.027 and 0.002, respectively). However, no relationship between levels of the circulating cell-free DNA and the pathological parameters as well as CA 125 measurement in patients with epithelial ovarian cancer was found. A significant difference between the epithelial ovarian cancer and endometriosis group was found in circulating cell-free mitochondrial DNA but not in circulating cell-free nuclear DNA (mean of mitochondrial DNA 4,918,978/2,273,988 and mean of nuclear DNA 10,723/3,291, P=.013 and 0.105, respectively). CONCLUSION: Elevated levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in epithelial ovarian cancer may have diagnostic value. Our finding suggests that the circulating molecules might be potential biomarkers in the disease.
Authors Rebecca R Zachariah, Seraina Schmid, Nicole Buerki, Ramin Radpour, Wolfgang Holzgreve, Xiaoyan Zhong (Affiliation: Laboratory for Prenatal Medicine and Gynaecologic Oncology, Women's Hospital/Department of Biomedicine, University of Basel, Basel, Switzerland.)
http://www.curehunter.com/public/pubmed1...
-------------------------------------------------
OncoMap Gene Sequencing Finds 50 Mutations in Ovarian Tumors
By: JENNIE SMITH, Internal Medicine News Digital Network
11/17/10
Mutational analysis using a Sequenom-based technique of ovarian cancer samples has unveiled more mutations than were previously known, and could become part of a personalized standard of care for these difficult-to-treat cancers, according to investigators.
Dr. Ursula Matulonis of Dana-Farber Cancer Institute and Harvard Medical School, both in Boston, plans to elaborate on the findings Nov. 17 at the 22nd EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics in Berlin.......
http://www.internalmedicinenews.com/news...
Thursday, May 27, 2010
Memorial Sloan-Kettering gets an approval to use Sequenom system for cancer diagnostics (lung, colorectal, thyroid & melanoma)
Kudos go to the Memorial Sloan-Kettering...
As the number of targeted cancer therapies grows, it is becoming increasingly important that hospital laboratories be able to perform timely and accurate genetic diagnostic tests on patients' tumor samples. These tests allow pathologists to determine the gene mutations within each patient's tumor cells so that oncologists can prescribe treatments that are most likely to be effective.
Now Memorial Sloan-Kettering has made an important step forward in efficiently diagnosing gene mutations in patients' cancers on an individual basis. The Center recently received approval from the New York State Department of Health to use a new, more sensitive and more efficient technology to look for mutations in the genes EGFR, KRAS, and BRAF in biopsy samples from patients with lung, colorectal, and thyroid cancers, as well as melanoma.
The test uses technology from a company called Sequenom. "To our knowledge, we are the only hospital to have New York State approval to use the Sequenom technology for this purpose," explained Marc Ladanyi, Chief of the Molecular Diagnostics Service and Director of the Diagnostic Molecular Pathology Laboratory. Dr. Ladanyi led the Memorial Sloan-Kettering team, including Laetitia Borsu, Chris Lau, and Khedoudja Nafa, that developed the protocols for and validated the performance characteristics of this new clinical application of Sequenom technology. Angela Marchetti will be the lead technologist for clinical testing.
In patients with certain types of cancer, the presence or absence of specific genetic mutations determines which therapies they are likely to respond to and, therefore, should receive. Knowing as much as possible about the genetic makeup of tumors helps ensure that patients get the treatments most likely to help them, while avoiding drugs that will not benefit them and the side effects that can accompany those drugs.
For example, lung cancer patients with mutations in the gene EGFR can be treated with the drug erlotinib (Tarceva®), which targets the product of the mutated gene. However, if patients instead have a mutation in the gene KRAS, they will not respond to the drug. In colorectal cancer, patients with mutations in KRAS and BRAF do not respond to the drugs cetuximab (Erbitux®) and panitumumab (Vectibix®), both of which also target the EGFR protein. In melanoma, patients whose tumors contain mutations in BRAF have recently been shown to respond well to a new BRAF inhibitor currently in clinical trials.
Memorial Sloan-Kettering has been at the forefront of testing for these mutations, starting with EGFR mutation testing in 2004, using then-standard DNA testing approaches.
"There's really been an evolution in molecular diagnostics," Dr. Ladanyi said. "We are moving from tests that are very labor intensive to tests that can be done in an automated, high-throughput manner. In addition, this new testing technology can provide results more quickly, as well as look for multiple mutations at the same time, something the old tests could not do."
Dr. Ladanyi added that the new technology also is more sensitive, allowing pathologists to perform molecular testing on biopsy samples that contain fewer tumor cells than what was required with the previous approaches. "This is important especially for patients who have already received therapy," he explained. "Treatments can cause a lot of inflammation in the tumor, and then immune cells and other normal cells can outnumber the actual tumor cells. It's also important in cancers where tumor cells are infiltrating connective tissue. This sensitivity and the ability to work with smaller tumor samples should make molecular diagnostic testing possible in cases where it was not before."
"The Sequenom technology brings personalized medicine right into the mainstream of our colorectal cancer program," said Leonard Saltz, co-leader of the colorectal disease management team. "We have known for a long time that colorectal cancer is a conglomerate of many diseases that all look roughly the same but have different genetic mutations. Now we will be able to break it down into patients with specific mutations in their tumors and target their therapies specifically at those mutations."
In addition to testing for mutations in the EGFR, KRAS, and BRAF genes, the new technology will enable investigators to look for mutations in other, less-well-known genes and to enroll patients in clinical trials for new, experimental therapies targeted at those genes.
"Not only will we be able to rapidly get the full mutational profile that helps us with decisions on the use of standard chemotherapies, but we can now have a much broader mutational profile on each patient's tumor, so that we can offer experimental treatment options to those patients who have a particular profile for which an experimental drug is likely to be effective," Dr. Saltz added. "Some of these profiles are relatively rare; but by screening everyone, we expect to be able to identify which patients are most likely to benefit from one particular research option versus another."
SOurce: http://www.mskcc.org/mskcc/html/98446.cfm
As the number of targeted cancer therapies grows, it is becoming increasingly important that hospital laboratories be able to perform timely and accurate genetic diagnostic tests on patients' tumor samples. These tests allow pathologists to determine the gene mutations within each patient's tumor cells so that oncologists can prescribe treatments that are most likely to be effective.
Now Memorial Sloan-Kettering has made an important step forward in efficiently diagnosing gene mutations in patients' cancers on an individual basis. The Center recently received approval from the New York State Department of Health to use a new, more sensitive and more efficient technology to look for mutations in the genes EGFR, KRAS, and BRAF in biopsy samples from patients with lung, colorectal, and thyroid cancers, as well as melanoma.
The test uses technology from a company called Sequenom. "To our knowledge, we are the only hospital to have New York State approval to use the Sequenom technology for this purpose," explained Marc Ladanyi, Chief of the Molecular Diagnostics Service and Director of the Diagnostic Molecular Pathology Laboratory. Dr. Ladanyi led the Memorial Sloan-Kettering team, including Laetitia Borsu, Chris Lau, and Khedoudja Nafa, that developed the protocols for and validated the performance characteristics of this new clinical application of Sequenom technology. Angela Marchetti will be the lead technologist for clinical testing.
In patients with certain types of cancer, the presence or absence of specific genetic mutations determines which therapies they are likely to respond to and, therefore, should receive. Knowing as much as possible about the genetic makeup of tumors helps ensure that patients get the treatments most likely to help them, while avoiding drugs that will not benefit them and the side effects that can accompany those drugs.
For example, lung cancer patients with mutations in the gene EGFR can be treated with the drug erlotinib (Tarceva®), which targets the product of the mutated gene. However, if patients instead have a mutation in the gene KRAS, they will not respond to the drug. In colorectal cancer, patients with mutations in KRAS and BRAF do not respond to the drugs cetuximab (Erbitux®) and panitumumab (Vectibix®), both of which also target the EGFR protein. In melanoma, patients whose tumors contain mutations in BRAF have recently been shown to respond well to a new BRAF inhibitor currently in clinical trials.
Memorial Sloan-Kettering has been at the forefront of testing for these mutations, starting with EGFR mutation testing in 2004, using then-standard DNA testing approaches.
"There's really been an evolution in molecular diagnostics," Dr. Ladanyi said. "We are moving from tests that are very labor intensive to tests that can be done in an automated, high-throughput manner. In addition, this new testing technology can provide results more quickly, as well as look for multiple mutations at the same time, something the old tests could not do."
Dr. Ladanyi added that the new technology also is more sensitive, allowing pathologists to perform molecular testing on biopsy samples that contain fewer tumor cells than what was required with the previous approaches. "This is important especially for patients who have already received therapy," he explained. "Treatments can cause a lot of inflammation in the tumor, and then immune cells and other normal cells can outnumber the actual tumor cells. It's also important in cancers where tumor cells are infiltrating connective tissue. This sensitivity and the ability to work with smaller tumor samples should make molecular diagnostic testing possible in cases where it was not before."
"The Sequenom technology brings personalized medicine right into the mainstream of our colorectal cancer program," said Leonard Saltz, co-leader of the colorectal disease management team. "We have known for a long time that colorectal cancer is a conglomerate of many diseases that all look roughly the same but have different genetic mutations. Now we will be able to break it down into patients with specific mutations in their tumors and target their therapies specifically at those mutations."
In addition to testing for mutations in the EGFR, KRAS, and BRAF genes, the new technology will enable investigators to look for mutations in other, less-well-known genes and to enroll patients in clinical trials for new, experimental therapies targeted at those genes.
"Not only will we be able to rapidly get the full mutational profile that helps us with decisions on the use of standard chemotherapies, but we can now have a much broader mutational profile on each patient's tumor, so that we can offer experimental treatment options to those patients who have a particular profile for which an experimental drug is likely to be effective," Dr. Saltz added. "Some of these profiles are relatively rare; but by screening everyone, we expect to be able to identify which patients are most likely to benefit from one particular research option versus another."
SOurce: http://www.mskcc.org/mskcc/html/98446.cfm
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