Early Intervention Key to Managing Shwachman-Diamond Syndrome: Insights from Dana-Farber’s Molecular Tumor Board

Dana-Farber Cancer Institute shared a post on LinkedIn:

“Imagine trying to navigate a paper map under gray skies in a place with very few road signs. There isn’t enough information on the ground to orient yourself on the map.

This may be how physicians feel when trying to navigate care for a patient with Shwachman-Diamond Syndrome (SDS), a rare inherited disease that, in some cases, progresses into leukemia. Patients who progress almost always develop a high-risk form of acute myeloid leukemia (AML) that is very hard to treat.

A team of Dana-Farber investigators, however, has learned a lot about how to put names on those road signs and how to navigate what is often a complex and nuanced map. To help more patients benefit from their knowledge, the team, which includes Akiko Shimamura, MD, PhD, director of the Bone Marrow Failure and Myelodysplastic Syndrome Program at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and Coleman Lindsley, MD, PhD, and Chris Reilly, MD, in the Adult Leukemia Program, has formed a molecular tumor board as part of the North American SDS Registry.

They make themselves and their expertise available to physicians anywhere in the world who are treating patients with SDS and help them navigate their patient’s molecular and clinical data.

The team has learned, for instance, that the key to helping these patients is detecting the earliest signs of progression before the disease transitions to leukemia or its precursor condition called myelodysplastic syndrome (MDS). Early detection involves a detailed analysis of patients’ blood counts, bone marrow biopsy reports, and molecular sequencing. This knowledge enables them to intervene early with stem cell transplant.

‘Once leukemia develops, outcomes are abysmal,’ says Shimamura, noting that standard treatments and stem cell transplants rarely improve survival. ‘So our goal is to intervene early to prevent progression to leukemia.’

The team emphasizes dialogue around data navigation and interpretation rather than diagnosis or treatment direction. Those decisions remain with the patient’s physician.

‘We can communicate across oceans, across continents, with physicians that are seeking help,’ says Reilly. ‘We all benefit from dialogue and are always going to be better interpreting the data as a group rather than as individuals.’

Patients who wish to consult with the team can come in – and have come from around the world – for a thorough workup, guidance, and treatment at Dana-Farber or at a center closer to home.

SDS was discovered in 1964, by Boston Children’s Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD. The disease is caused by a mutation in a gene known as SBDS. The mutation affects every cell in the body, so there can be many symptoms.

More on the SDS registry.

Nature article: Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Blood article: Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.”

Source: Dana-Farber Cancer Institute /LinkedIn

Dana-Farber Cancer Institute, located in Boston, Massachusetts, is a leading institution for cancer treatment and research. It was founded by Sidney Farber on 1947. Currently, the Institute has over 5,000 staff, faculty, and clinicians on board. They manage in excess of 640,000 outpatient visits each year, oversee more than 1,000 hospital discharges annually, and are actively involved in over 1,100 ongoing clinical trials.

As of 2023, Dana-Farber is ranked as the #4 cancer hospital globally. Dana-Farber’s research contributions include the development of Gleevec, a highly successful treatment for chronic myeloid leukemia.