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

Marisa J.L. Aitken | Zendy; Christopher B. Benton | Zendy; Ghayas C. Issa | Zendy; Koji Sasaki | Zendy; Musa Yılmaz | Zendy; Nicholas J. Short | Zendy

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

Author(s) -

Marisa J.L. Aitken,

Christopher B. Benton,

Ghayas C. Issa,

Koji Sasaki,

Musa Yılmaz,

Nicholas J. Short

Publication year - 2021

Publication title -

acta haematologica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.574

H-Index - 56

eISSN - 1421-9662

pISSN - 0001-5792

DOI - 10.1159/000513925

Subject(s) - aunt , pathogenesis , disease , medicine , myeloid leukemia , etiology , family history , cancer , chromosomal translocation , genetics , bioinformatics , immunology , biology , gene , sociology , anthropology

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.

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