Palliative Chemotherapy is Well Tolerated in a Patient With Metastatic Colorectal Cancer Due to Bloom Syndrome With a Novel BLM Mutation.

Abstract

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.