Evaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literature

Abstract

We report the case of a father and son diagnosed with atypical chronic myeloid leukemia (aCML). Both patients harbored SETBP1 mutations, which are present in 24.3% of aCML patients. Moreover, both shared the variant encoding p.Pro737His, but the aCML severity was greater in the son because of the presence of two other missense mutations causing p.Asp868Asn and p.Ser885Arg alterations. SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.

Figure 1. Bone marrow smear and biopsy of the son. A, Bone marrow smear stained with Wright-Giemsa (original magnification, 1000×). Black arrow: myeloblast (July 2013). B, Bone marrow biopsy stained with hematoxylin and eosin (original magnification, 100×). White arrow: fibroblast proliferation (July 2013).

Figure 2. SETBP1 mutations (boxed) present in the son (A-C) and the father (D). Upper rows indicate normal sequences, and lower rows indicate patient sequences.