Malignant Histiocytosis and the Bernese Mountain Dog
How You Can Help.

MH is a highly breed-specific genetic disease that is of significant concern to BMD owners in the USA and Europe. The age of onset is late, generally @5 years. On average, one in every five BMD deaths is from MH and close to 80 % of MH cases are diagnosed in BMD's.

While MH is clearly genetic in the BMD, it's mode of inheritance is not well understood and the number of genes involved is still speculative.

Ongoing Scientific Projects to Find the MH Gene

The laboratory of Dr. Elaine Ostrander and colleagues (Dr. Heidi Parker and Dr. Nate Sutter) of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) is conducting a study of Malignant Histiocytosis (MH) in Bernese Mountain Dogs. The goal of this study team is to find variation in genes associated with MH. Recent advances with the canine genome project have facilitated the mapping of canine diseases and we are building upon these resources and successes to try and identify the MH gene in the BMD.

In addition and working independently, the laboratories of Drs. Catherine André, Francis Galibert and Benoit Hédan of the CNRS / Medical University at Rennes in France have also been studying MH in BMD's and have collected a single large family with a large number of affected individuals, with great help of the French BMD club (AFBS).

Since we wish to find the MH genes as quickly as possible, the laboratories of Dr. Elaine Ostrander in the U.S. and Drs. Catherine André, Francis Galibert and Benoit Hédan of the CNRS / Medical University at Rennes in France have been recently funded by the AKC-CHF to collaborate on this extraordinary project. This offers an exciting opportunity for a group of long term colleagues and friends who have collaborated many times in the past to work together again to pool our resources and talents to expedite the search for the MH gene.

This funding also complements an ongoing project in the laboratory of longtime collaborator Dr. Matthew Breen who seeks to understand the changes in MH tumors that are associated with rapid onset and progression of the disease. Our now three laboratories have a long history of collaboration, and the proposed plan represents the most efficient way to tackle this complex disorder.

The three research groups have established a formal collaborative strategy to collect and share both genome DNA (from blood samples) and tumor DNA on affected dogs and this web message addresses the particulars of how to send samples to us in a way that ensures they will be used most expeditiously. Our hope is that this collaborative will lead to rapid identification of the germline mutation/ and these results will in turn be a major step forward in developing a much needed diagnostic test for the BMD.

What Can You Do to Help?

If you are in the United States
Thanks to the generous help of many BMD owners, we have collected a number of blood samples from affected and unaffected animals and we have initiated the first phase of the genome scan. However, we are in need of more samples from both affected and unaffected individuals.

Cases :
If you know that your BMD has MH, please request a study kit. After signing and sending in the consent forms you will be instructed on how to send in a blood sample, supporting paperwork, and information on affection status. It will be necessary to have pathology done to establish whether your dog definitely has MH and to provide to researchers the pathology reports. The pedigree information of your dog is also essential.

All information will be kept confidential.
You may request mulitple kits. Kits can be obtained by emailing:
Dr. Heidi Parker at
or Tel: (301) 402-8625 or (301) 496-7299.

Unaffected Controls:
If your BMD is over 10 years of age and has never been diagnosed with MH then a sample is useful to us a a control. Please contact Dr Parker as above and request a kit as well. We will only need a blood sample, pedigree and date and contact information regarding your dog's last check up.
NB It is essential that you contact us if your dog is later diagnosed with MH

Sending Blood Samples in the US :
The blood kit contains two 10cc blood collection tubes that your veterinarian can use to collect the samples, and a set of blood draw instructions. Unfortunately, veterinary costs to draw the blood and mailing costs to send the samples to NHGRI/NIH can not be reimbursed, nor can pathology costs. You can mail your dogs’ blood sample to NIH using the regular US mail service and mailer we will provide. Samples can be sent at room temperature. The kit also contains a reminder to send in your pedigree information and pathology results, if your dog is affected.

Tumors :
If you have tumor samples available on your dog please let Dr. Parker know. We will coordinate sending them to Dr. Breen. Alternatively you can contact Dr. Breen yourself at North Carolina State at the following email::

In either case we will also take responsibility for providing Dr. Breen with an aliquot of DNA from the blood sample you provide for us so he may complete his tumor study.

If you are in Europe: please send
1) 5 ml of blood in EDTA tubes (purple cups) (name, breed, sex written on the tube)
2) Pedigree information of each dog
3) A note from the vet indicating the clinical status of the dog - if an MH is suspected, it will be necessary to have pathology done to establish whether it is definitely affected and to provide the pathology reports.

Please send samples at room temperature by 48 hr delivery mail (Colissimo or Distingo) at the address below :

Dr. Catherine André
email :
UMR6061, CNRS/ Université de Rennes 1
Faculté de Médecine 2, Av. Léon Bernard 35043 Rennes cedex, FRANCE
Tel +33 (0)2 23 23 45 09
Fax : +33 (0)2 23 23 44 78

If you have any question please don’t hesitate to call Dr. Andre at : +33 (0)2 23 23 45 09
You may also visit the web site at :

If you are in the UK,
Samples submitted to the Oncology Research Department at the Animal Health Trust will also become a part of this larger International Research.

This collaboration was set up some years ago when Dr Matthew Breen was working in the UK for the AHT

To download the form and for more information
<click here>

Thank you all for your contributions and interest to this important project. We look forward to working with each on you as we strive to improve the health of this important and beautiful breed of dogs.


Elaine A. Ostrander Ph.D. Mathew Breen, Ph.D. Cbiol MIbiol Catherine Andre, Ph.D. Head, Comparative Genetics Lab Associate Professor of Genomics UMR 6061 CNRS Génétique Chief, Cancer Genetics Branch Dept of Mol. Biomedical Sciences et Développement, National Institutes of Health North Carolina State University Faculté de médecine University of Rennes, France.

The latest news on this research from Dr Matthew Breen

"We have developed a way to get some useful information from the paraffin blocks that are used to establish a diagnosis of MH by the Path lab. It would be a great help if you can spread the word to owners of dogs who have lost their BMDs to MH in the past to see if they can get hold of this biopsy sample (in the paraffin block) and send it to me. This block may be either with the vet or more likely the Path lab that the vet used to obtain a Path report."

Those of you who have lost Berners in the past may still be able to help here.

Matthew Breen PhD CBiol MIBiol
Associate Professor of Genomics
Dept.of Molecular Biomedical Sciences
College of Veterinary Medicine
North Carolina State University
4700 Hillsborough Street
North Carolina 27606

Temporary change for consent forms 27th August '08

Dear All,

We are having the lab website altered over the next couple of weeks and so temporary pages have been set up this afternoon but the majority of the website is effectively out of action. In case anyone needs access to the consent forms the temporary page is:

I will let you all know the new info as soon as we get it.

The consent forms will change so that there will be one for submission of blood, one for archival material, and one for the tumor tissue and blood from cancer affected dogs. We are setting the system up so that owners will have the option to fill the consent forms out out on-line and submit them electronically.

Thanks for your help.

Best wishes,

Tessa Breen
Canine Genomics Laboratory
Dept. of Clinical Sciences
Room 330 CVM Research Building
College of Veterinary Medicine
North Carolina State University
4700 Hillsborough Street
Raleigh NC 27606
Tel: 919-513-1466
Fax: 919-513-7301

Results of The Eighth Annual Willem Wijnberg AKCCHF Cancer Fundraiser
further helping the research into this terrible disease

Histio Roll Call
To fully understand just how important it is that we do all we can to help and fund this research, view the Histio Roll Call Site and see just some of the many beloved Bernese lost to this awful disease.