There is a forum on Yahoo Health Groups where you may find some valuable information. This is a place where patients of small cell ovarian cancer and their loved ones share ideas about their various treatments through posts.
You will need to become a member of this group which takes a few days.
Tazemetostat Multicenter Study Now Open!
The EZH2 inhibitor (Tazemetostat) study is open at Memorial Sloan Kettering Cancer Center.
It will accept patients with SCCOHT along with a few other types of rare tumors. The MSKCC protocol number is 15-328.
Memorial Sloan Kettering Cancer Center
New York, New York, United States, 10065
Contact: Kelly-Andre Prophete 646-888-4167 firstname.lastname@example.org
Principal Investigator: Mrinal Gounder, MD
Memorial Sloan Kettering Cancer Center Tazemetostat Clinical Trial Update
On Friday, December 16, 2016 I had the opportunity to speak with Dr. David Hyman and Dr. Mrinal Gounder of Memorial Sloan Kettering. Dr. Gounder is the principal investigator of the Tazemetostat clinical trial and Dr. Hyman coordinates the SCCOHT patients involved in the trial. As you may know, Tazemetostat has shown promising results for SCCOHT patients in the Phase I study and is now being evaluated in the Phase II study. The best way to get the most current information is to call Drs. Gounder and Hyman to discuss. They are very interested in speaking to you about your treatment even if you do not live close to NYC and think that participating in this study might not be practical for you. Dr. Gounder is available to speak with anyone interested in participating in the Tazemetostat trial and can be reached at 646-888-4167. Dr. Hyman, an expert in gynecologic oncology and SCCOHT feels this drug has the potential to change the standard of care for SCCOHT. Dr. Hyman is willing to speak to anyone who has been diagnosed with SCCOHT (whether you are currently in treatment, remission or newly diagnosed) and is available at 646-888-4544. Doctors at MSKCC were among the first to describe the genetics of SCCOHT in great depth. The oncology team at MSKCC are passionate to take the next step forward in the search for a cure. I hope you will all take advantage of the opportunity to speak with these doctors.
The Tazemetostat study (NCT02601950) is open at Cincinnati Children's Hospital Medical Center.
They are accepting patients up to 35 years of age.
Please contact Dr. Joseph Pressey at Joseph.Pressey@cchmc.org for more information.
CLICK HERE to read more about the study.
CLICK HERE to view a poster with information about the Tazemetostat Trials
SCCO Research at NYU Perlmutter Cancer Center
Researchers at NYU, who previously discovered the gene thought to cause SCCOHT, are now learning how this gene interacts with other proteins to cause this cancer and focusing on which drugs may most effectively treat this aggressive disease. The gene, SMARCA4, plays a role in chromatin modification and epigenetic changes which is the way in which DNA accesses chromosomes to control various replication events within a cell. More information about these research findings can be found HERE.
Ongoing work at NYU (New York University Langone Health) is centered around developing new animal models to improve the study of SCCOHT. NYU is also interested in learning more about the risk factors for this rare disease and studying the epidemiology behind SCCO. The research is led by Douglas A. Levine, MD and the research team can be reached by email at email@example.com. More information about the lab can be found HERE and information about Dr. Levine can be found HERE. Follow Dr. Levine on twitter @levineMD for research updates as they become available.
Small Cell Ovarian Cancer Project – United Kingdom
Small Cell Ovarian Cancer Project aims to develop an International Research Collaboration and Patient Registry. By consolidating the knowledge and experience of both patients and clinicians we want to provide a necessary foundation for effective research into the small cell cancer.
Small cell is rare but important type of ovarian cancer that predominantly affects young women, with a mean age of 24 years at diagnosis and often a poor prognosis. It represents less than 1% of all ovarian cancer diagnosis, with fewer than 300 cases reported in the literature so far.
Recently, there has been major a breakthrough in the understanding of the aetiology of small cell cancer of the ovary with the discovery that inherited mutations in the SMARCA4 gene explain many of the familial cases of the small cell ovarian cancer of hypercalcaemic type ( SCCOHT). The gene is somatically mutated in the majority of the SCCOHT cancers. This is the first step in the targeted path to targeted drug development and implementation- a similar process in the BRCA- related cancers took 20 years from the identification of the BRCA1 and BRCA2 genes to the discovery and implementation of PARP inhibitors. SCCOHT is rarer than BRCA-related cancer which makes it even more challenging to study.
The project is an initiative of Dr Marc Tischkowitz and Prof Martin Widschwendter. It is supported by Eve Appeal Angela’s Fund- created in a memory of Angela Butcher who was diagnosed with small cell ovarian cancer and bravely fundraised with her family to start the first in UK research into the small cell ovarian cancer.
If you are interested in finding our more about our project please visit www.sc-ovca.org website.
Dr. Douglas Levine of Memorial Sloan Kettering and Dr. William Foulkes
of McGill University conducted a webinar on October 30, 2015.
Epizyme Announces Updated Tazemetostat Phase 1 Data Showing Clinical Activity in a Broader Range of Adults With INI1-Negative and SMARCA4-Negative Solid Tumors. More information can be found HERE.
Study of EPZ-6438 Formerly Known as E7438 (EZH2 Histone Methyl Transferase [HMT] Inhibitor) as a Single Agent in Subjects With Advanced Solid Tumors or With B-cell Lymphomas. Information about the study can be found HERE.
Dr. Douglas Levine of Memorial Sloan-Kettering hosted a webinar on April 24th, 2104. He discussed the latest discoveries in SCCOHT, as well as future research plans. Follow THIS LINK to view an archive of the webinar, which is open to all. To view the webinar, you must complete a short form which will give you the option to participate in future research studies.
This webinar gives a very thorough explanation about our immune system and all the mechanisms involved in recognizing and fighting cancer. We have heard of several SCCO patients showing promising results with Nivolumab and Pembrolizumab which are specifically mentioned about 30 minutes into this video.
Research Study at McGill University:
Major genetic breakthrough in rare form of ovarian cancer holds promise for new treatment approaches
Researchers at the Lady Davis Institute identify the first genetic mutation in deadly form of ovarian cancer that strikes young women.
Montreal, March 24, 2014 – The discovery of mutations in a single gene in multiple cases of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), the most common undifferentiated ovarian cancer to strike women under 40, by a team led by Dr. William Foulkes of the Lady Davis Institute (LDI) at the Jewish General Hospital (JGH), represents a huge breakthrough. The findings are published in Nature Genetics.
“Though rare, SCCOHT is important because the average age of victims is 25, with some as young as 2 years old. The oldest known patient was a woman of 48. The prognosis is dismal unless diagnosed early,” explains Dr. Foulkes, who is head of the Cancer Genetics Laboratory at the LDI and of the Program in Cancer Genetics at McGill University. “By identifying a specific genetic factor, we finally have the prospect for early genetic counselling for women with a family history of the disease in order to determine the presence of the mutation before the disease emerges, and it opens opportunities for new approaches to treatment.”
By using a technique known as whole exome sequencing (WES), a revolutionary method for diagnosis and taxonomy that was only developed over the past five years, Dr. Foulkes and collaborator Dr. Jacek Majewski of the Department of Human Genetics at McGill, succeeded in identifying a mutation in the chromatin-remodelling gene SMARCA4 that was common to three families with at least two members afflicted with SCCOHT. Further testing of a total of 40 cases revealed that this was the only important genetic alteration in any of the tumors.
“Treatment options remain limited to poisoning this cancer with DNA damaging agents,” said Dr. Foulkes. “However, these are unlikely to be as effective as using novel therapies that function by modulating expression of the mutant gene. Developing a drug that targets SMARCA4 could have widespread benefits, as this gene has been implicated in various primary cancers, including kidney and pediatric brain tumors.”
Patients with a family history of early on-set ovarian cancer can now be screened for this genetic mutation and given counselling about available options. For example, a 33-year-old woman in the United States whose mother and twin sisters both died of the disease was screened and found to have the SMARCA4 mutation. She took doctor advice and opted to have her ovaries removed because of her extremely high risk of developing ovarian cancer. This patient has consented to media interviews.
Importantly, the study classifies SCCOHT as a malignant rhabdoid tumor – in essence, a type of tumor usually seen in the brain, that, in this instance, sprouts in the ovary. This is much more than a mere academic achievement, as pathologists depend on recognizing the architecture of a cancer in order to accurately diagnose it. Now they will be able to diagnose this cancer with a simple antibody test.
“Though the mutation is rare, this is a devastating cancer that emerges in young women and will kill about half of those who get it within five years,” Dr. Foulkes said.
Developing novel therapies targeted at particular biomarkers is among the strengths of the cancer research programs at the LDI and Segal Cancer Centre at the JGH. The principle underlying personalized medicine in cancer, which is a major focus at the JGH, is to identify those biomarkers that characterize each patient’s cancer and to prescribe therapies that directly target the genetic foundations of the malignancy. Treatment can be directly targeted when the cause of a cancer can be isolated to a particular gene, leading to far better outcomes for patients.
Critical to the research that went into this study were extensive international collaborations involving clinician-scientists across Canada and from as far afield as Australia, Germany, France, Greece, Slovenia, the United States, and the United Kingdom. Essential support for several aspects of this project was supplied by the McGill University and Genome Quebec Innovation Centre.
If you would like more information regarding this study, or the ongoing research, please contact:
Recent advances in SCCO research provide roadmap for future work: focus on next stage of treatment
• Gene mutation found in 75 percent of all cases.
• Finding sets the stage for drug development, clinical trials.
• Finding also allows for definitive diagnosis, enabling more appropriate treatment.
• Additional patient samples help advance follow-on research studies.
About the Study
The cause of a rare type of ovarian cancer, small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), that most often strikes girls and young women has been uncovered by an international research team led by the Translational Genomics Research Institute (TGen), the British Columbia Cancer Agency (BCCA), Canada, and nine other hospitals and universities.
The study results appeared March 23, 2014 in the journal Nature Genetics.
The findings revealed a “genetic superhighway” mutation in a gene found in the overwhelming majority of patients with SCCOHT.
This type of cancer usually is not diagnosed until it is in its advanced stages. It has affected girls as young as 14 months, and women as old as 58 years, with a mean age of 24 years. The youngest patient in this study was 9 years old.
The international team, led by TGen Scientific Director Dr. Jeffrey Trent, sequenced the DNA from 12 SCCOHT patients, and found mutations in a particular gene —SMARCA4— in 75 percent (9/12) of the cases studied.
Moreover, they found that the SMARCA4 protein was absent in 82 percent (14/17) of tumor samples they studied. This protein controls DNA that programs cell behavior, which is normally found in healthy ovarian cells, but is missing in SCCOHT tumor cells.
The finding represents the genetic underpinnings of SCCOHT and the researchers have high confidence that it sets the stage for clinical trials that could provide patients with increased benefit.
The majority of the mutations that were identified in this study, were found in the tumor samples; but mutations in the normal DNA of two patients of 9 and 10 years of age, were also discovered. The presence of SMARCA4 mutations in the normal DNA (also called germline DNA) increases the risk of developing SCCOHT, and might be associated with the younger cases of the disease. Also, germline mutations are passed on to the following generations, and thus would explain cases of familial SCCOHT.
This study also determined that SMARCA4 mutations are very specific to SCCOHT, as only 0.4 percent (2/485) of the tumors examined showed lack of SMARCA4 protein. Testing for SMARCA4 protein can therefore aid in the differential diagnosis of SCCOHT.
Follow-on Research Studies
Future research studies at TGen and BCCA will focus on taking advantage of the newly found genetic vulnerability of SCCOHT tumors to develop targeted treatments for SCCO patients. Toward improved treatments, the team is already working on testing the effectiveness of different therapeutic compounds (potential beneficial drugs), while in the lab, the research team works to understand how changes in the gene lead to development of SCCO and other cancers (potential diagnostic tests).
If you have been diagnosed with SCCOHT, (or you are the guardian of a loved one lost to SCCOHT), please consider helping us fight this disease by providing part of your tumor and / or a small amount of blood for our studies. In addition, we will ask to collect some of your medical information, through completion of a participant questionnaire. There is NO COST to you to participate.
For information about how to participate in this study please visit www.tgen.org/scco or contact the Study Coordinator directly at (602) 343-8653 or email: firstname.lastname@example.org. For scientific questions please contact Dr. Jeffrey Trent at email@example.com.
Potential Questions For Your Oncologist
When visiting with your Oncologist for the first time it can be difficult to know all the right questions to ask. We’ve compiled a small list of questions that may be helpful to you. Click Here to see the full list.
Dr. Joseph Pressey of Cincinnati Childen's Hospital Medical Center is available to field questions about SCCO.
Contact him at Joseph.Pressey@cchmc.org
Small Cell Ovarian Cancer is considered a "Compassionate Allowance" disorder that may automatically qualify for fast-track disability benefits in the USA. For more information visit: CLICK HERE
Follow these links to articles and interviews about the Johns Hopkins research study using Pap Tests to screen for early detection of Ovarian Cancer.
You may find helpful information from these leading cancer centers.
MD Anderson Cancer Center www.mdanderson.org
Memorial Sloan-Kettering Cancer Center www.mskcc.org
If you have information or suggestions that you feel might be helpful to small cell ovarian cancer patients or their loved ones, send us an email at firstname.lastname@example.org. We will post it below.
JOIN THE FIGHT AGAINST SMALL CELL OVARIAN CANCER
Comments From Our Readers:
September 23, 2016 - From Kerry, a mom
"Maren, I credit you and your family with helping save Tara's life. Your website was instrumental in not only finding the help we needed immediately, but through your efforts it brought everything together to get us up to speed very quickly. So extremely valuable to find all the resources in one area. Many heartfelt thanks!!"
March 12, 2015 - From Sofia, Portugal
About my diagnosis and treatment (including chemo, radiotherapy, radiosurgery and immunotherapy):
In December 2011, I was diagnosed with stage 1A small cell ovarian cancer hypercalcemic type and lost my two ovaries despite just one was sick... I didn't do chemo after. The hospital was careless with me and only when I decided to go to another place 9 months after, I found was sick again: 2 new tumors- one near the primary area and another on retroperitoneum. They were very hard to operate on that time because the big one was stuck on the vena cava and arteria aorta. So, in November 2012 I started chemo: cisplatin + etoposide and checked after 3 months and the tumors were shrunk by 50% so they could be operable...I decided to do another chemo cycle before surgery because I chose to get my surgery at MD Anderson, Madrid (Spain, so not my country).
September 26, 2014 - From Monica,
Thank you Maren & Ron Petersen for the best resource website on the internet in honor of your beautiful daughter Stephanie.
When I was first diagnosed I was scrambling on the internet to find treatment as there were not many options here in Maui.
I came across the excellent research paper from M.D.Anderson with Dr. Schmeler and ended up making an appointment with her right away.
Starting treatment soon after. It was pretty much the only encouraging news I found anywhere.
You also had a link to a research paper from France about stem cell and chemo. This is the paper I showed to MD Anderson to get an appointment with the stem cell doctors that ultimately convinced them to try the Tandem stem cell transplant for myself and another small cell girl as well.
Every little bit of positive research and information goes a long way in helping us and even helping our doctors.
I would have most likely done a very different course of treatment if I had never found your website and I doubt very much I would be here today.
It's hard to find good information and a good place for treatment but I feel that has gotten easier now with your doctor directory. Dr. Schmeler told me she gets one call a week now from a Doctor or Patient working out how to do her Protocol in some other far off place. She has also said your website and sites like the yahoo group have changed access to good treatment forever for the better.
This is true for my case.
blessings and love
Monica and Michael
May 21, 2013 - From Amber,
To whom it may concern:
My sister was diagnosed with small cell ovarian cancer, hypercalcemic type when she was 3 months post-partum less than 2 months ago at the age of 29. Like Stephanie, she is an amazing girl - smart, wonderful mother to now 2 small children, loving wife, and sister.
She is currently undergoing chemotherapy at MD Anderson. I want to let you know that your story about your amazing daughter/sister, Stephanie, and your resources have been the ONLY place for us to turn over the past 6 weeks for guidance and encouragement. I cannot thank you enough. Erin (my sister) has teamed up with Dr. Ramirez and is flying to Houston and now participating in all 3 research studies largely due to the 'Helpful Links' on your site.
You have truly served the world in memory of your beautiful daughter.
April 23, 2012 - From Jeffrey,
My wife was diagnosed with SCCOC Sept 10, 2010 our doctors said they had never seen a case of this type of cancer. She had a tumor the size of a grapefruit removed two days later, then six weeks of Chemo. Her pet test showed that she was cancer free. It came back about two months later in the form of a tumor the size of a small orange. Surgery again. Chemo again. Reoccurred a third time surgery again this time 25 days of radiation therapy and five rounds of Chemo. Now here we are for the fourth time, this time it came back stronger than ever, six golf ball size tumors, she is in the hospital now being treated for high calcium, which is a dead give away for SCCOC. Our doctor Giuselle Ghuarani has more experience with this disease just treating my wife than most doctor will in a life time. Any help you can give us with treatment that may work, we are open to suggestions. So far it has baffled the Oncologists at Florida Hospital in Orlando, Fla. I read your website with great interest. I'm interested in your foundation, as I have just formed one of my own, before I knew about yours. Maybe we can join forces for the greater good.
October 10, 2011 – From Carrie,
First of all I want to say that there is much hope and that you are certainly not alone. I will give you as much info as I can. I had my original surgery last September. They removed a football-sized tumor, my right ovary, and fallopian tube. I was stage 2C. I began chemo and had 5 rounds of cisplatin 35mg and etoposide 180mg, 5 days a week, every 3 weeks. These were the only drugs I received. Some docs felt that this was a very aggressive dosing regimen and some thought I should have one more round, which my doc thought was too dangerous. I then had a full hysterectomy (debulking) surgery about 4 weeks after I finished chemo. I felt that being aggressive was my best chance of survival at the time. I also have 2 beautiful girls, ages 1 and 3, and was OK with stopping there. I agonized with many of the decisions I had to make as there is no accepted protocol or treatment, as I'm sure you're finding out. After I had healed from this surgery, I underwent 25 days of radiation therapy to my pelvis, with an extension into my abdomen, but not full abdominal radiation. I can give you the names of everyone I have seen, as I wanted as many opinions as I could. I also highly recommend speaking with Dr Joseph Pressey. Aside from the fact that he's a wonderful man, he's also a wealth of information.
Here is a list of my docs:
Dr Mary Cunningham - GYN ONC Syracuse, NY
Dr Jeffrey Bogart - RAD ONC Syracuse, NY
Dr Ramondetta - GYN ONC MD Anderson Houston, Texas
Dr Hensley - MED ONC Sloan Kettering New York, NY
Dr Stram - Integrative Doctor, Delmar, NY
There may be more, but these are the main doctors. I also saw a RAD ONC at Sloan Kettering who refused to treat me because there were no studies supporting radiation as beneficial for this type of cancer. I should also mention that I made some major lifestyle changes as part of my own treatment, like giving up refined sugars and creating a supplement regimen to support my body's recovery both before and after chemo and radiation. I hope this has helped:) I think the MOST important thing to remember is that staying positive is the key. Question your doctors, and do your research. I created a walking file that had all of my doctor's notes and therapy outlines. I also used the Corporate Angel Network for all of my flights for second, third, and fourth opinions. They are amazing!
September 21, 2011 – From Caitlin,
After going through the worst year of my life, today I am 1 year cancer free! I am amazed that I have overcome a rare ovarian cancer that most women do not survive. I still worry every day that the cancer will come back but for now I am living my life and am happy to be getting back to normal. Through all the bad times I have met some great people and have made some really good friends I might not have met otherwise. I think about all of my teal sisters still fighting and send you strength every day. We all need to keep fighting, we are strong women and can overcome all odds and make it through this horrible diagnosis.
September 21, 2011 – From Karyn,
This week has been a very good one for our family. We learned on Monday that our 19 year-old daughter's PET Scan was clear! She will be cancer free for one year on October 10. It is so exciting to see that things are changing, and there is new, very real, hope for all the brave and wonderful women fighting this disease, including our daughter.
February 1, 2011 – From Kim,
“I have been seeing Dr. Kathleen Schmeler at MD Anderson since October 2009. She oversaw my chemotherapy and then performed my hysterectomy. I finished my chemo in April of 2010, and am happy to report that I am still cancer free. I just had an exam, blood work and CT scans last week. The chemo I had was vincristine, Cytoxan, cisplatin, Adriamycin, etoposide, and bleomycin…”