Rare t(1;11)(q23;p15) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature.
Balanced chromosome rearrangements are the hallmark of therapy-related leukemia that develops in patients treated with topoisomerase II inhibitors. Many of these rearrangements involve recurrent chromosomal sites and associated genes (11q23/MLL, 21q22.3/AML1, and 11p15/NUP98), which can interact with a variety of partner genes. One such rearrangement is the rare t(1;11)(q23;p15), which involves juxtaposition of the homeobox gene PMX1 (PRRX1) and NUP98. We report on an additional patient with t(1;11) who presented with myelodysplastic syndrome (MDS) subsequent to treatment for a pleomorphic liposarcoma. With time, the patient's disorder progressed to acute myelomonocytic leukemia with cytogenetic evidence of clonal evolution. To our knowledge, this is the first report of a patient presenting with a myelodysplastic syndrome with isolated t(1;11) (q23;p15), which evolved into therapy-related acute myeloid leukemia (t-AML). This patient is the third reported with this cytogenetic rearrangement and t-AML, and is compared with the other two reports of t(1;11)(q23;p15).
Zhang
Ling
L
Department of Pathology and Laboratory, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Room 4711, Los Angeles, CA 90048, USA. zhang11999@yahoo.com
Alsabeh
Randa
R
Mecucci
Cristina
C
La Starza
Roberta
R
Gorello
Paolo
P
Lee
Stephen
S
Lill
Michael
M
Schreck
Rhona
R
D000328:Adult; D000368:Aged; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D018450:Disease Progression; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology* / Q000628:therapy*; D009504:Neutrophils / Q000378:metabolism; D014178:Translocation, Genetic