Abstract
Bloom syndrome (BS) is arare autosomal recessive disorder caused by aloss-of-function mutation in the BLM gene encoding an RecQ helicase involved in DNA repair and maintenance of chromosomal stability. In patients with BS, significant sensitivity to both DNA-damaging chemotherapy (CT) and ionizing radiation complicates the management of neoplasms by exacerbating comorbidities and predisposing to toxicities and poor outcomes. A30-year-old female patient diagnosed with BS who presented with early-stage triple-negative breast cancer was treated with four cycles of doxorubicin (60 mg/m2) and cyclophosphamide (600 mg/m2) followed by weekly paclitaxel (80 mg/m2) for 12weeks as the chemotherapy protocol and atotal of 5000cGy curative radiotherapy (RT). Due to pancytopenia 8months after completion of therapy, bone marrow biopsy and aspiration were performed, and adiagnosis of myelodysplastic syndrome with excess blasts2 (MDS-EB2) was made. Two courses of the azacitidine (75 mg/m2) protocol were administered every 28days in the hematology clinic. Two weeks after CT the patient was transferred from the emergency department to the hematology clinic with the diagnosis of pancytopenia and febrile neutropenia. She died at the age of 33due to sepsis that developed during follow-up. Due to the rarity of BS, there is no prospective trial in patients with cancer and no evidence base upon which to design treatment programs. For these reasons, it is strongly recommended that patients receive multidisciplinary care, with precise assessment and discussion of the indication and an adequate dose of DNA-damaging agents such as chemotherapy and ionizing radiation.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have