In this issue: New case report - successful treatment of breast cancer in a patient with SDS!
Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you!
New Case Report: Managing Solid Tumors in SDS - Challenges and Treatment Strategies
As frequently discussed in the Shwachman-Diamond Syndrome (SDS) community, some individuals with SDS develop serious blood cancers, like leukemia, during their lifetime. Solid tumors, like breast cancer, are less common in individuals with SDS but can still happen. In this week’s SDS & Science Snapshot, we are highlighting a recently published article which shares the story of an adult woman with SDS who was successfully treated for stage IV breast cancer using a combination of chemotherapy and supportive care.
The patient, a 41-year-old woman, had SDS and developed a type of breast cancer that was hormone receptor-positive and HER2-positive. This means that the cancer was driven by specific hormones and proteins, which made it treatable with targeted therapies. Because of her SDS and underlying bone marrow issues, her doctors had to carefully adjust her treatment plan to avoid making her bone marrow problems worse. She was treated with chemotherapy drugs along with granulocyte colony-stimulating factor (G-CSF) to help her body make more white blood cells and reduce the risk of infections. After nine cycles of treatment, she achieved a complete response, meaning no cancer was detected.
Treating solid tumors like breast cancer in patients with SDS can be particularly challenging because of their underlying bone marrow problems and increased sensitivity to chemotherapy. Many SDS patients have low levels of important blood cells (i.e. neutrophils), which makes it difficult to handle standard chemotherapy. Chemotherapy can further lower these blood cell counts, increasing the risk of severe infections and other complications. The use of G-CSF, which helps the bone marrow produce more white blood cells, can be helpful but comes with its own risks. In some cases, G-CSF might increase the chance of developing leukemia in patients with SDS, especially those with certain acquired (or somatic) genetic mutations. This risk in not well established and subject to controversy in the medical community. In any case, careful monitoring is needed to balance the benefits of cancer treatment with the potential risks.
In this case, the patient was able to tolerate chemotherapy with the help of G-CSF, and her cancer responded well to treatment. However, she will need to be closely watched for any signs of blood cancers in the future, as the long-term effects of G-CSF use in SDS patients are not fully understood. For patients with SDS who develop solid tumors, it’s important to have a personalized treatment plan that takes into account these unique health challenges. Collaboration with SDS experts ins highly encouraged.
Overall, this case highlights the possibility of successfully treating solid tumors in patients with SDS, but it also emphasizes the need for careful management of their underlying blood disorders. While this patient had a positive outcome, ongoing research and close follow-up are essential for understanding the best ways to treat cancer in this rare group of patients.
We have reached out to the authors to offer our resources and support to the patient.
Morecroft R, Logothetics CN, Tarnawsky SP, Davis AA. Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report. Transl Breast Cancer Res. 2024 Jul 22;5:26. PMID: 39184925.
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