Jacqueline Baca, Katherine Anderson, Thomas Lahiri, Amelia Sybenga, Timothy Higgins, Jessica L Heath
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Palliative Chemotherapy is Well Tolerated in a Patient With Metastatic Colorectal Cancer Due to Bloom Syndrome With a Novel BLM Mutation.
Background: Bloom syndrome is an autosomal recessive condition of genomic instability caused by increased sister-chromatid exchange, which results in a predisposition to a variety of cancers at a young age. The molecular alterations in Bloom Syndrome predisposing to chromosomal instability alter the expected response to and toxicities of chemotherapy in patients with this condition.
Observations: We report a 16-year-old patient with previously undiagnosed Bloom syndrome who presented with metastatic mucinous adenocarcinoma and tolerated palliative chemotherapy, initially with modified FOLFOX and subsequently with FOLFIRI, both at 50% dose reduction, without significant toxicity.
Conclusions: Dose modified multiagent chemotherapy was well tolerated in an adolescent patient with Bloom Syndrome and metastatic colorectal cancer.
期刊介绍：
Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.
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