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1/2026
vol. 101 abstract:
Case report
Treatment-related toxicities in acute lymphoblastic leukemia in a child with Marfan syndrome: a case report
Kinga Kwiecinska
1
,
Wojciech Czogała
1
,
Kacper Szczepan Żurek
2
,
Konrad Kaleta
2
,
Kamil Możdżeń
2
,
Agnieszka Murawska
2
,
Szymon Skoczeń
1
Pediatr Pol 2026; 101 (1)
Online publish date: 2026/03/30
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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.
keywords:
complications, relapse, WES, acute lymphoblastic leukemia, Marfan syndrome |
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