Two Cases of Possible Familial Chronic Myeloid Leukemia in a Family with Extensive History of Cancer

CML is defined by the presence of an oncogenic fusion protein caused by a reciprocal translocation between chromosomes 9q and 22q. While our molecular understanding of CML pathogenesis has revolutionized drug development for this disease, we have yet to identify many predisposing factors for CML. Familial occurrence of CML has been rarely reported. Here, we describe 2 cases of CML in a 24-year-old woman and in her 73-year-old maternal great aunt. We describe genetic variants in these patients and report on their environmental exposures that may have contributed to CML pathogenesis. The possible familial association of these 2 cases of CML warrants further investigation into more definitive etiologies of this disease.

Automated summary

Chronic myeloid leukemia (CML) is defined by the presence of an oncogenic fusion protein caused by a reciprocal translocation between chromosomes 9q and 22q. Familial occurrence of CML is rare, but in the cases described, genetic variants in the patients and their environmental exposures are reported as factors that may have contributed to CML pathogenesis. Further investigation into the familial association of these two cases of CML is warranted to explore definitive etiologies of the disease.