The Pediatric SDH-Deficient GIST Consortium, which was launched at the Biden Cancer Summit, consists of an impressive team of researchers, clinicians, academics, and patient advocacy groups.

A member of our consortium, Dr. Joshua D. Schiffman of Huntsman Cancer Institute, is featured in this newsletter. Dr. Schiffman is conducting a research study on SDH-mutated paragangliomas (PGLs) and other SDH-deficient tumors.

Dr. Joshua Schiffman, a member of the Pediatric & SDH-Deficient GIST Consortium, is conducting a research  study on SDH-mutated Paragangliomas (PGLs), Pheochromocytomas (PCCs), and other tumors, entitled The Paraganglioma Preclinical Project. The project is underway and Dr. Schiffman is looking for support.

* Paraganglioma is a rare tumor, a collection of cells, that develops in the peripheral nervous system, closely related to pheochromocytoma. It can present as part of Carney-Stratakis Dyad (paraganglioma and GIST). For more info on paraganglioma and GIST, see

What’s the project about?

To quote from a recent appeal from Dr. Schiffman: Paragangliomas (PGLs) and pheochromocytomas (PCCs) are extremely rare in the general population (along with other SDH-driven tumors like some gastrointestinal stromal tumors [GISTs] and Renal Cell Carcinomas [RCCs]). When these rare tumors are found in the healthy person in the population, they are often slow growing and benign, especially PGLs.

However, when PGLs and PCCs develop due to an underlying genetic and inherited cause such as a germline mutation in the SDH family of genes (like SDHB mutations), these tumors can become quite aggressive and difficult to treat.

In the setting of an underlying genetic cause, these tumors can spread, or metastasize, and they can be very resistant to any type of treatment. Unfortunately, once these PGL or PCC tumors spread throughout the body, we have very little to offer patients in the way of successful therapy.

One of the challenges of treating these tumors is that they are so rare that it is difficult for doctors and scientists to help choose the correct therapy and run a large-scale clinical trial. This effort is being funded in order to improve the lives of patients with PGL/PCCs and hopefully to find a treatment for this disease.

What’s the goal?

As part of this project, we have established a PGL/PCC team of collaborators at HCI that will work to:
1)  collect PGL/PCC tumors from patients when they are removed surgically,
2)  grow these tumors in the laboratory,
3)  perform genomic analysis on the tumors,
4)  implant these tumors into mice,
5)  maintain these mice so that tumors can be expanded into more mice, and
6)  test novel therapies and combination of drugs to identify what can effectively work to stop these tumors from growing in mice.

Can I participate?

Patients with PGL/PCC tumors (and any SDH-driven tumors) regardless of their location can participate and will be invited to be enrolled on the Cancer Genetics Study at HCI, an Institutional Review Board (IRB)-approved study that consents patients with rare cancers due to genetic causes to share their tumors for research like that being done as part of the PPP. Patients with PGL/PCCs that will require surgery who are interested in participating in this project can call (801)-587-4768 for more information and ask about participating in the Cancer Genetics Study.

As the Pediatric & SDH-Deficient GIST Consortium continues to work collaboratively to share research projects, we will continue to feature studies where patient participation and data can move the research forward.

Dr. Joshua SchiffmanDr. Schiffman is a Professor of Pediatrics and Investigator at Huntsman Cancer Institute, the Medical Director for the Family Cancer Assessment Clinic, and the Education Director for the Program in Personalized Health at the University of Utah. He is also a Pediatric Hematologist-Oncologist at Intermountain Primary Children’s Hospital in Salt Lake City, Utah.

He oversees a research laboratory at Huntsman Cancer Institute at University of Utah where he focuses on genomic development of cancer in children and studying animals that develop more cancer (like pet dogs) and other animals that are naturally protected from cancer (like elephants and whales).

Dr. Schiffman’s work revolves around genetic risk for cancer and its application for cancer diagnosis, treatment, and prevention. Dr. Schiffman’s clinical and research efforts focus on how to translate scientific discovery from the laboratory to his patients at increased risk for cancer.