Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma
<p>Abstract</p> <p>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 ac...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2010-07-01
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| Series: | Journal of Hematology & Oncology |
| Online Access: | http://www.jhoonline.org/content/3/1/25 |
| _version_ | 1811294502492569600 |
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| author | Malone Adriana K Gruenstein Stephen Sivendran Shanthi Najfeld Vesna |
| author_facet | Malone Adriana K Gruenstein Stephen Sivendran Shanthi Najfeld Vesna |
| author_sort | Malone Adriana K |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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<abbrgrp><abbr bid="B1">1</abbr></abbrgrp>. 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.</p> |
| first_indexed | 2024-04-13T05:18:36Z |
| format | Article |
| id | doaj.art-769971b8571d41d3b184ce40ee4819b7 |
| institution | Directory Open Access Journal |
| issn | 1756-8722 |
| language | English |
| last_indexed | 2024-04-13T05:18:36Z |
| publishDate | 2010-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Hematology & Oncology |
| spelling | doaj.art-769971b8571d41d3b184ce40ee4819b72022-12-22T03:00:49ZengBMCJournal of Hematology & Oncology1756-87222010-07-01312510.1186/1756-8722-3-25Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemmaMalone Adriana KGruenstein StephenSivendran ShanthiNajfeld Vesna<p>Abstract</p> <p>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<abbrgrp><abbr bid="B1">1</abbr></abbrgrp>. 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.</p>http://www.jhoonline.org/content/3/1/25 |
| spellingShingle | Malone Adriana K Gruenstein Stephen Sivendran Shanthi Najfeld Vesna Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma Journal of Hematology & Oncology |
| title | Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma |
| title_full | Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma |
| title_fullStr | Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma |
| title_full_unstemmed | Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma |
| title_short | Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma |
| title_sort | ring chromosome 18 abnormality in acute myelogenous leukemia the clinical dilemma |
| url | http://www.jhoonline.org/content/3/1/25 |
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