title: Secondary Philadelphia chromosome and erythrophagocytosis in a relapsed acute myeloid leukemia after hematopoietic cell transplantation.
abstract: The acquisition of the Philadelphia chromosome (Ph) as a secondary change during the course of hematopoietic malignancies is rare and is associated with poor prognosis. Few cases of secondary Ph have been reported after hematopoietic cell transplantation (HCT). A secondary Ph at relapse is of clinical importance because it provides a therapeutic target for tyrosine kinase inhibitors along with or in replacement of chemotherapy. We describe a case of relapsed acute myeloid leukemia (AML) after HCT that developed a BCR-ABL1 translocation along with erythrophagocytosis by blasts as a secondary change at the time of relapse. The progression of this patient's myeloid neoplasm from myelodysplastic syndrome to AML to relapsed AML after HCT was accompanied by a stepwise cytogenetic evolution: A deletion 20q abnormality subsequently acquired a deletion 7q and, finally, at relapse after HCT, a secondary Ph was gained. The relationship between the secondary Ph and the erythrophagocytosis by blasts is not clear. We review the possible pathogenesis and cytogenetic associations of erythrophagocytosis by blasts, a rare feature in acute leukemias.
authors: Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, AZ. Electronic address: katikelemen99@yahoo.com.
authors: Katalin
authors: K
authors: Kelemen
authors: Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, AZ; BSR Labs, Division of Pathology, Nagpur, India.
authors: Komal
authors: K
authors: Galani
authors: Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, AZ.
authors: Christopher R
authors: CR
authors: Conley
authors: Department of Laboratory Medicine and Pathology, Cytogenetics Laboratory, Mayo Clinic, Rochester, MN.
authors: Patricia T
authors: PT
authors: Greipp
mesh_terms: D000368:Aged; D020732:Cytogenetic Analysis; D004912:Erythrocytes / Q000378:metabolism* / Q000473:pathology; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000097:blood* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009364:Neoplasm Recurrence, Local / Q000097:blood / Q000235:genetics / Q000473:pathology; D010587:Phagocytosis / Q000502:physiology*; D010677:Philadelphia Chromosome; D019172:Transplantation Conditioning / Q000379:methods
chemical_list: C581634:BCR-ABL1 fusion protein, human; D016044:Fusion Proteins, bcr-abl
keywords: Acute myeloid leukemia; erythrophagocytosis; hematopoietic cell transplantation; secondary Philadelphia chromosome