Research Study at UC San Francisco

Is your child suspected of having juvenile myelomonocytic leukemia (JMML)?

About 85% of children with this rare disorder have an alteration in their leukemia cells in one of the genes that encode proteins in the Ras pathway. The Ras pathway has been implicated in many forms of leukemia.

There are several researchers in the United States and across the world that are interested in testing for these mutations, as well as doing research on these cells. The hope is that we will find a cure for JMML someday that might allow us to treat children with this disease with different types of therapy other than bone marrow transplant. Specifically, at the University of California San Francisco (UCSF), Drs. Mignon Loh, Elliot Stieglitz, and Tiffany Chang are conducting research to better understand the genetic and biochemical changes that can lead to JMML. With your help, the researchers at UCSF hope to study the cells affected by JMML to eventually lead to a cure.  

Children suspected of having JMML or another myeloproliferative disorder resembling JMML as well as their biological parents are being asked to participate in this study.

To participate in this research, you will need to sign a consent form that will allow the researchers to contact your child’s pediatric specialty doctor so that they may obtain relevant medical information about your child. In addition, we will need you and your physician to fill out a brief questionnaire that asks you about your child’s medical history, physical exam, and family history for cancer risk. Then the researchers at UCSF will coordinate with your doctors the best time to obtain a blood sample, bone marrow sample (if possible), and a buccal swab sample from your child early in the diagnostic process. A buccal swab is a sample from a Q-tip that is rubbed gently on the inside of the cheek. In addition, we would ask that biologic parents submit buccal swabs or a blood sample as well. It might also be necessary to ask for a skin biopsy, which can be done in the same place  (back of the hip bone) and at the same time as the bone marrow aspirate. 

Follow-up blood or bone marrow samples from your child may be requested after diagnosis. These blood or bone marrow samples would only be collected during routine blood count measurements for regular care. With your permission, these samples would be used for current and future research as well as to store the samples at the UCSF Cancer Center’s Tissue Bank.

If at any time, you would like to withdraw your samples from the cell bank for future research, you can contact either members of the Loh laboratory at the number below. Please have your physician contact Elliot Stieglitz, MD at (415) 514-9389 or email, or for more information. You can also keep track of their research by visiting their website at

If you are located in Europe or Asia, please see below for international investigators to contact.



Parents can contact their local physician or the Coordinating Study Center of EWOG-MDS in Freiburg, Germany. The Chairperson of EWOG-MDS is Dr. Charlotte Niemeyer, University Children's Hospital, Mathildenstrasse 1, 79106 Freiburg, Germany.

Phone: +49-761-270-4506
Fax: +49-761-270-4518


Atsushi Manabe, MD
Department of Pediatrics
St. Luke's International Hospital
9-1, Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan
Phone: +81-3-3541-5151
Fax: +81-3-3547-3330

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