Publication Date:
2015-12-03
Description:
Background: The clonal expansion of PIGA mutant hematopoietic stem cells (HSCs) can be induced by secondary driver mutations in genes such as HMGA2 and JAK2 in some patients with paroxysmal nocturnal hemoglobinuria (PNH). Theoretically, this type of PNH may be cured by molecular targeted therapy if the therapy is specific for the driver mutations and can eliminate PIGA mutant HSCs that acquired a proliferative advantage. However, this theory has not been proven because of the lack of an appropriate targeted therapy for known driver mutations responsible for clonal expansion of PIGA mutant HSCs. We recently treated a case of PNH complicated by chronic myeloid leukemia (CML) with nilotinib and observed a complete molecular response of CML followed by a complete disappearance of glycosylphosphatidylinositol-anchored protein-deficient (GPI-AP-, PNH-type) cells after 19 months of treatment. Case report: The patient, a 27-year-old Japanese woman, developed severe anemia with leukocytosis and thrombocytosis in 2013. The laboratory findings on admission were as follows: white blood cell count of 18.7x109/L with 1.7% stab neutrophils, 5.4% segmented neutrophils, 9.3% basophils, 1.3% promyelocytes, 5.0% myelocytes, 3.0% metamyelocytes, 18.0% lymphocytes and 0.7% blasts; hemoglobin (Hb)=6.0 g/dL, platelets=1,000x109/L, 20.0% reticulocytes, total/direct bilirubin=1.9/0.3 mg/dL, LDH=1963 IU/L and haptoglobin
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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