Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer

Pediatr Blood Cancer. 2021 Feb;68(2):e28815. doi: 10.1002/pbc.28815. Epub 2020 Nov 23.

Abstract

The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair, predisposing to the development of early-onset age-related medical conditions and malignancies. We report on two patients with Bloom syndrome who responded well to chemotherapy despite significant alterations to standard protocols necessitated by hypersensitivity. Both patients experienced severe toxicities and exacerbation of endocrine comorbidities during chemotherapy. A multidisciplinary team of oncologists and endocrinologists is best suited to care for this patient population.

Keywords: Bloom syndrome; endocrinopathies; malignancy; treatment-related toxicity.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / adverse effects
  • Antineoplastic Agents / therapeutic use*
  • Bloom Syndrome / genetics
  • Bloom Syndrome / pathology*
  • DNA Repair / genetics
  • Endocrine System Diseases / pathology*
  • Female
  • Humans
  • Male
  • Neoplasms / drug therapy*
  • Neoplasms / pathology
  • RecQ Helicases / genetics
  • Young Adult

Substances

  • Antineoplastic Agents
  • Bloom syndrome protein
  • RecQ Helicases