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.
Highlights
Prognostic features in acute myelogenous leukemia (AML) are strongly influenced by genetic changes in leukemic cells[2]
In this report we describe a patient with M5 AML with a ring 18 abnormality and discuss the etiology, clinical features, classification, and the clinical dilemma related to treatment of ring chromosome aberrations in AML
Two patients with AML and an isolated ring 18 abnormality have been reported in the literature
Summary
Prognostic features in AML are strongly influenced by genetic changes in leukemic cells[2]. There are rare, recurrent, cytogenetic abnormalities in AML that have not been classified This is primarily due to the small number of reported patients, whose risk category and response to treatment is not well known. Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies but have been reported in up to 70% of mesenchymal tumors[1]. A repeat bone marrow aspirate and Figure 1 Metaphase FISH maping of SYT, MALT1 and BCL2 on normal chromosome 18 (left). The patient underwent a conditioning regimen of melphalan, thiotepa, fludarabine, and ATG followed by an allogeneic cord blood transplant from a sex matched donor He remained in hematologic and cytogenetic remission with 100% donor cell engraftment for 120 days. Soon afterwards he developed post transplant lymphoproliferative disorder and died of multiorgan failure
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