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Case Reports
. 2021;144(5):585-590.
doi: 10.1159/000513925. Epub 2021 Mar 18.

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

Marisa J L Aitken  1   2 , Christopher B Benton  1   3 , Ghayas C Issa  1 , Koji Sasaki  1 , Musa Yilmaz  1 , Nicholas J Short  4
Affiliations
Case Reports

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

Marisa J L Aitken et al. Acta Haematol. 2021.

Abstract

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.

Keywords: Chronic myeloid leukemia; Familial cancer; Hereditary cancer syndromes.

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Conflict of interest statement

Conflict of Interest Statement

The authors have no conflicts of interest to declare.

Figures

Figure 1.
Figure 1.. Family tree.
Representation of individuals in the family of patients 1 and 2 who were diagnosed with cancer. Squares represent females, and circles represent males. Shading within a shape indicates that the given individual received a cancer diagnosis. Type of cancer and age at diagnosis is indicated. Deceased individuals are denoted with a line through the shape.
See this image and copyright information in PMC

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