CASE REPORT
Treatment-related toxicities in acute lymphoblastic leukemia in a child with Marfan syndrome: a case report
1
Department of Pediatric Oncology and Hematology, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Poland
2
Student Scientific Club of Pediatric Oncology and Hematology, Jagiellonian University Medical College, Cracow, Poland
Submission date: 2025-08-20
Final revision date: 2025-11-20
Acceptance date: 2025-12-10
Publication date: 2026-03-27
Corresponding author
Wojciech Czogała
Dr. Wojciech Czogała, Department of Pediatric Oncology and Hematology, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Polan
Dr. Wojciech Czogała, Department of Pediatric Oncology and Hematology, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Polan
Pediatr Pol 2026;62(1):95-104
KEYWORDS
TOPICS
ABSTRACT
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene. Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. The coexistence of MFS and ALL is rare and presents a unique clinical challenge. We report the case of an 8.5-year-old boy with MFS who developed precursor B-cell acute lymphoblastic leukemia with the ETV6-RUNX1 fusion gene. He achieved complete remission with initial chemotherapy. Two years later, he experienced a relapse involving the testes and central nervous system. Subsequent treatment led to severe complications. Whole exome sequencing revealed multiple pathogenic variants, including a CHEK2 mutation, potentially contributing to the malignancy and treatment-related toxicities. This case highlights the potential role of dysregulated transforming growth factor β signaling in MFS contributing to leukemogenesis. The patient’s severe complications and co-occurrence of MFS underscore the need for personalized therapeutic strategies and comprehensive, multidisciplinary care. Further research is essential to improve clinical outcomes.
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