Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma | Sivendran et al. Journal of Hematology Oncology 2010 3 25 http content 3 1 25 JOURNAL OF HEMATOLOGY ONCOLOGY CASE REPORT Open Access Ring chromosome 18 abnormality in acute myelogenous leukemia the clinical dilemma Shanthi Sivendran1 Stephen Gruenstein1 Adriana K Malone1 Vesna Najfeld1 2 Abstract The ring chromosome is a circular structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material 1 . Considering that ring chromosomes are rare in acute myelogenous leukemia AML it is difficult to risk stratify patient prognosis particularly when the ring chromosome occurs as the sole abnormality. Here we report a case of a ring chromosome 18 abnormality in a patient with newly diagnosed AML with monocytic differentiation. Cytogenetic analysis demonstrated 46 XY r 18 p11q21 karyotype in 19 of 34 evaluated metaphase cells. The patient received induction chemotherapy and subsequent allogeneic cord blood transplant from a sex-matched donor and remained in hematologic and cytogenetic remission for 120 days post transplant. Soon after he developed post transplant lymphoproliferative disorder and died of multi-organ failure. Although r 18 chromosomal abnormalities were not classified in the recent updated evidence-and expert opinion-based recommendations for the diagnosis and management of AML likely due to the small number of reported cases the patient was treated as high risk with stem cell transplantation. This was based on the unstable nature of the ring chromosome and the poor outcomes described in the literature of patients with sole ring 18 abnormalities. Background Prognostic features in AML are strongly influenced by genetic changes in leukemic cells 2 . Currently based on cytogenetic findings and mutational status of some genes
